The OMIM API URLs are organized in a very simple fashion:
/api/[handler]?[parameters]
/api/[handler]/[component]?[parameters]
/api/[handler]/[action]?[parameters]
The handler refers to the data object, such as an entry or a clinical synopsis.
The component is optional and refers to a specific data component within a data object for example references within an entry.
The action is optional and refers to an action to be performed on a data object, such as a search for entries.
For basic 'GET's, the component or action are usually optional.
The parameters would include things such as MIM numbers, data retrieval options and data formatting options.
Since this is a read-only database, 'GET' is the only HTTP method for public access, all other HTTP methods will return an error (except for the apiKey handler which supports 'POST' and 'DELETE' to add/remove the apiKey from the cookies).
Basics:
Handlers:
The API key is a key that is unique to every developer wanting to access the API. It is allocated by OMIM and should not be shared. This has to be included with every request and is validated before the request is processed. There are three ways in which it can be included with a request.
Added as an HTTP Header as follows:
ApiKey: nfNEOscLNWWXdSmUoMLPPA
Added as a cookie as follows:
Cookie: ApiKey=nfNEOscLNWWXdSmUoMLPPA
Added as a parameter to the url request as follows:
https://api.omim.org/....?...&apiKey=nfNEOscLNWWXdSmUoMLPPA
Note that the API key parameter name is case-sensitive.
There are a number of generic parameters which are supported by all handler, these being:
Parameter | Description |
---|---|
format | This specifies the format of the data returned, these include 'json' and 'xml' (for example 'format=json'). |
The API provides a simple, yet powerful, HTML based interface to see how urls are structured.
The home page of the HTML based interface is:
The API will limit how many entries can be retrieved in a single request.
Entries and clinical synopses are limited to 20 per request if any 'includes' are specified, otherwise there is no limit.
Gene map entries are limited to 100 per request.
Results can be retrieved in batches using the 'start' and 'limit' parameters as follows:
...start=0&limit=20...
...start=20&limit=20..
...start=40&limit=20..
The API supports gzip compression so, if possible, you should enable gzip compression in your client to reduce network traffic. Compression can reduce the size of responses by a factor of 4 or 5 which is advantageous in bandwidth-constrained environments.
Compression is automatically supported in some clients, whereas it needs to be specifically enabled in others. Please check the documentation for the client you are using.
The HTTP header indicating that your client can receive a compressed response is as follows:
Accept-Encoding: gzip
For example curl does not enable gzip compression by default, so this will receive an uncompressed response:
curl "https://api.omim.org/api/..."
Adding the HTTP header to will receive a compressed response:
curl -H "Accept-Encoding: gzip" "https://api.omim.org/api/..." | gunzip
The API host is:
api.omim.org
The API returns the following HTTP status codes:
Status | Name | Description |
---|---|---|
200 | OK | The request was successful |
400 | Bad Request | The request failed because the URL was incorrect |
401 | Unauthorized | The request failed because the API key is invalid or inactive |
404 | Not Found | The request failed because the data requested does not exist |
429 | Too Many Requests | The request failed because the quota for the API key has been exceeded |
500 | Internal Server Error | The request failed because of an internal server error |
The entry handler supports the following actions/components:
This is the default case and requires one parameter 'mimNumber' specifying the MIM entry to be retrieved, for example:
https://api.omim.org/api/entry?mimNumber=100100
Multiple MIM numbers can be specified as follows:
https://api.omim.org/api/entry?mimNumber=100100&mimNumber=100200
or as follows:
https://api.omim.org/api/entry?mimNumber=100100,100200
This will return the MIM number, the prefix, the status and the titles.
Additional content can be retrieved using the 'include' parameter, the includes are as follows:
Parameter | Description |
---|---|
text | Includes the text field sections with the entry. |
existFlags | Include the 'exists' flags with the entry (clinical synopsis, allelic variant, gene map & phenotype map). |
allelicVariantList | Includes the allelic variant list with the entry. |
clinicalSynopsis | Include the clinical synopsis with the entry. |
seeAlso | Includes the 'see also' field with the entry. |
referenceList | Include the reference list with the entry. |
geneMap | Include the gene map/phenotype map data with the entry. |
externalLinks | Include the external links with the entry. |
contributors | Includes the 'contributors' field with the entry. |
creationDate | Includes the 'creation date' field with the entry. |
editHistory | Includes the 'edit history' field with the entry. |
dates | Include the dates data with the entry. |
all | Include the above data with the entry. |
For example:
https://api.omim.org/api/entry?mimNumber=100100&include=text&include=geneMap
or:
https://api.omim.org/api/entry?mimNumber=100100&include=text,geneMap
By default the 'text' include will return the entire text which can be quite long. You can specify which text section(s) is returned by appending a colon followed by the text section name to 'text', for example:
https://api.omim.org/api/entry?mimNumber=100100&include=text:clinicalFeatures
The text sections are:
Section Name | Section Title |
---|---|
animalModel | Animal Model |
biochemicalFeatures | Biochemical Features |
clinicalFeatures | Clinical Features |
clinicalManagement | Clinical Management |
cloning | Cloning and Expression |
cytogenetics | Cytogenetics |
description | Description |
diagnosis | Diagnosis |
evolution | Evolution |
geneFamily | Gene Family |
geneFunction | Gene Function |
geneStructure | Gene Structure |
geneTherapy | Gene Therapy |
geneticVariability | Genetic Variability |
genotype | Genotype |
genotypePhenotypeCorrelations | Genotype/Phenotype Correlations |
heterogeneity | Heterogeneity |
history | History |
inheritance | Inheritance |
mapping | Mapping |
molecularGenetics | Molecular Genetics |
nomenclature | Nomenclature |
otherFeatures | Other Features |
pathogenesis | Pathogenesis |
phenotype | Phenotype |
populationGenetics | Population Genetics |
text | Text (unfielded text section at the start of the entry) |
Finally if all the data was needed, one could just specify:
Parameter | Description |
---|---|
all | Include all the data with the entry. |
For example:
https://api.omim.org/api/entry?mimNumber=100100&include=all
It is strongly recommended that only the data that is needed is retrieved in a request. Retrieving unneeded data means that your request will take longer than it normally would.
There is also an 'exclude' parameter to exclude unwanted sections, for example you might want all the data except for the clinical synopsis:
https://api.omim.org/api/entry?mimNumber=100100&include=all&exclude=clinicalSynopsis
Searching is provided by SOLR and uses the extended dismax parser:
This allows the client to perform a search with the following parameters:
Parameter | Description |
---|---|
search | The search (required) |
filter | The filter (optional) |
fields | The fields, defaults to 'number^5 title^3 default' |
sort | The sort order to use, defaults to 'score desc' |
operator | The operator to use |
start | The start offset into the results, default is 0 |
limit | The number of results to return, default is 10 |
retrieve | To retrieve the gene map or clinical synopses corresponding to the entries instead of the entries themselves |
For example:
https://api.omim.org/api/entry/search?search=duchenne&start=0&limit=20
Additionally all the parameters listed in the section above also apply, for example:
https://api.omim.org/api/entry/search?search=duchenne&start=0&limit=20&include=geneMap
The 'operator' parameter is optional and can be used to require returned documents to contain all the terms in the search:
Parameter | Description |
---|---|
AND | to require returned documents to contain all the terms in the search |
The 'sort' parameter takes the any of the search fields available in the entry index, some useful sort orders include:
Parameter | Description |
---|---|
score desc | for descending score order |
score desc, prefix_sort desc | for descending score order, and descending prefix sort order |
date_created desc | for descending date created order |
date_created asc | for ascending date created order |
date_updated desc | for descending date updated order |
date_updated asc | for ascending date updated order |
For example:
https://api.omim.org/api/entry/search?search=duchenne&sort=score+desc
If unspecified, the sort defaults to 'score desc'. Note that the sort order ('asc' or 'desc') is required.
The 'retrieve' parameter allows the retrieval of the gene map or clinical synopses corresponding to the entries instead of the entries themselves:
Parameter | Description |
---|---|
geneMap | to retrieve the corresponding gene map |
clinicalSynopsis | to retrieve the corresponding clinical synopses |
Note that search can also be done through the search handler, in this case the handler and the action are flipped, so:
https://api.omim.org/api/entry/search?search=duchenne&start=0&limit=20&include=geneMap
is the same as:
https://api.omim.org/api/search/entry?search=duchenne&start=0&limit=20&include=geneMap
This allows the client to retrieve the allelic variants for the specified MIM entry, for example:
https://api.omim.org/api/entry/allelicVariantList?mimNumber=100100
This allows the client to retrieve the references for the specified MIM entry, for example:
https://api.omim.org/api/entry/referenceList?mimNumber=100100
Entry Data:
Field | Comments | |||||||
---|---|---|---|---|---|---|---|---|
omim | ||||||||
entryList | ||||||||
entry | ||||||||
prefix | ||||||||
mimNumber | ||||||||
titles | ||||||||
preferredTitle | title and symbol, delimited with ';' | |||||||
includedTitles | titles are delimited with ';;', and title/symbols are delimited with ';' | |||||||
status | 'live', 'moved', 'removed' | |||||||
movedTo | Will be set to the target entry mim number if this was moved | |||||||
clinicalSynopsisExists | true|false - depending on whether a clinical synopsis exists, set if the 'exists' include was set | |||||||
allelicVariantExists | true|false - depending on whether an allelic variant exists, set if the 'exists' include was set | |||||||
geneMapExists | true|false - depending on whether a gene map exists, set if the 'exists' include was set | |||||||
phenotypeMapExists | true|false - depending on whether a phenotype map exists, set if the 'exists' include was set | |||||||
phenotypicSeriesExists | true|false - depending on whether a phenotypic series exists, set if the 'exists' include was set | |||||||
textSectionList | text section list in order | |||||||
textSection | ||||||||
textSectionName | ||||||||
textSectionTitle | ||||||||
textSectionContent | ||||||||
allelicVariantList | ||||||||
allelicVariant | ||||||||
number | ||||||||
status | 'live', 'moved', 'removed' | |||||||
movedTo | Will be set to the target entry mim number if this was moved | |||||||
name | ||||||||
alternativeNames | ||||||||
mutations | ||||||||
text | ||||||||
clinvarAccessions | comma list of ClinVar accession | |||||||
dbSnps | comma delimited list of SNPs | |||||||
gnomadSnps | gnomAD SNPs | |||||||
seeAlso | see-also list, delimited with ';' | |||||||
referenceList | ||||||||
reference | ||||||||
mimNumber | ||||||||
referenceNumber | ||||||||
authors | ||||||||
title | ||||||||
source | ||||||||
pubmedID | ||||||||
articleUrl | ||||||||
doi | ||||||||
geneMapList | ||||||||
geneMap | ||||||||
sequenceID | ||||||||
chromosome | 1-24 | |||||||
chromosomeSymbol | 1-22, X, Y | |||||||
chromosomeSort | ||||||||
chromosomeLocationStart | (if available) | |||||||
chromosomeLocationEnd | (if available) | |||||||
transcript | (if available) | |||||||
cytoLocation | ||||||||
computedCytoLocation | (if available) | |||||||
mimNumber | ||||||||
molecularSeriesNumber | Comma delimited list of molecular series numbers | |||||||
geneSymbols | Comma delimited list of symbols | |||||||
geneName | ||||||||
references | ||||||||
comments | ||||||||
mouseGeneSymbol | ||||||||
mouseMgiID | ||||||||
approvedGeneSymbols | ||||||||
geneIDs | ||||||||
ensemblIDs | ||||||||
phenotypeMapList | ||||||||
phenotypeMap | ||||||||
mimNumber | ||||||||
phenotype | ||||||||
phenotypeMimNumber | ||||||||
phenotypicSeriesNumber | Comma delimited list of phenotypic series numbers | |||||||
phenotypeMappingKey | ||||||||
phenotypeInheritance | ||||||||
phenotypeMapList | ||||||||
phenotypeMap | ||||||||
mimNumber | ||||||||
phenotype | ||||||||
phenotypeMimNumber | ||||||||
phenotypicSeriesNumber | Comma delimited list of phenotypic series numbers | |||||||
phenotypeMappingKey | ||||||||
phenotypeInheritance | ||||||||
sequence ID | Gene map sequence ID | |||||||
chromosome | 1-24 | |||||||
chromosomeSymbol | 1-22, X, Y | |||||||
chromosomeSort | ||||||||
chromosomeLocationStart | (if available) | |||||||
chromosomeLocationEnd | (if available) | |||||||
transcript | (if available) | |||||||
cytoLocation | ||||||||
computedCytoLocation | (if available) | |||||||
geneSymbols | Comma delimited list of symbols | |||||||
approvedGeneSymbols | ||||||||
geneIDs | ||||||||
ensemblIDs | ||||||||
externalLinks | ||||||||
geneIDs | comma delimited list of entrez gene IDs | |||||||
hgncID | HGNC ID | |||||||
ensemblIDs | triple-colon delimited list of coma-delimited ensembl ID pairs | |||||||
approvedGeneSymbols | comma delimited list of approved gene symbols | |||||||
ncbiReferenceSequences | comma delimited list of NCBI reference sequences | |||||||
genbankNucleotideSequences | comma delimited list of genbank nucleotide sequences | |||||||
proteinSequences | comma delimited list of protein sequences | |||||||
uniProtIDs | comma delimited list of uniprot IDs | |||||||
locusSpecificDBs | triple semi-colon delimited database name/url tuples, each tuple is double semi-colon delimited | |||||||
mgiIDs | comma delimited list of MGI IDs | |||||||
mgiHumanDisease | MGI human disease flag (true|false) | |||||||
wormbaseIDs | comma delimited list of wormbase IDs | |||||||
wormbaseDO | wormbase DO | |||||||
nbkIDs | triple semi-colon delimited list of double semi-colon delimited NBK ID/clinical disease name pairs | |||||||
possumSyndromes | triple semi-colon delimited list of double semi-colon delimited possum ID/possum syndrome name pairs | |||||||
flybaseIDs | comma delimited list of flybase IDs | |||||||
zfinIDs | comma delimited list of zfin IDs | |||||||
hprdIDs | comma delimited list of hprd IDs | |||||||
coriellDiseases | triple semi-colon delimited list of double semi-colon delimited coriell disease | |||||||
orphanetDiseases | triple semi-colon delimited list of double semi-colon delimited orphanet ID/disease pairs | |||||||
decipherSyndromes | DECIPHER syndromes | |||||||
decipherGene | DECIPHER gene flag (true|false) | |||||||
geneticsHomeReferenceIDs | Genetics Home Reference IDs | |||||||
omiaIDs | OMIA IDs | |||||||
snomedctIDs | SNOMEDCT IDs | |||||||
icd10cmIDs | ICD10CM IDs | |||||||
icd9cmIDs | ICD9CM IDs | |||||||
umlsIDs | UMLS IDs | |||||||
diseaseOntologyIDs | Disease Ontology IDs | |||||||
geneticAllianceIDs | Genetic Alliance IDs | |||||||
gtr | GTR | |||||||
cmgGene | CMG Gene | |||||||
keggPathways | KEGG Pathways | |||||||
gwasCatalog | GWAS Catalog | |||||||
clinGenDosage | ClinGen Dosage | |||||||
clinGenValidity | ClinGen Validity | |||||||
monarch | Monarch | |||||||
newbornScreening | Newborn Screening | |||||||
pharmgkbID | PharmGKB ID | |||||||
allianceGenome | Alliance Genome | |||||||
contributors | ||||||||
creationDate | ||||||||
editHistory | ||||||||
dateCreated | Web date | |||||||
epochCreated | Unix epoch | |||||||
dateUpdated | Web date | |||||||
epochUpdated | Unix epoch | |||||||
Entry Allelic Variant Data:
Field | Comments | ||||
---|---|---|---|---|---|
omim | |||||
allelicVariantLists | |||||
allelicVariantList | |||||
allelicVariant | |||||
prefix | |||||
mimNumber | |||||
preferredTitle | |||||
number | |||||
status | 'live', 'moved', 'removed' | ||||
movedTo | Will be set to the target entry mim number if this was moved | ||||
name | |||||
alternativeNames | |||||
mutations | |||||
text | |||||
dbSNPs | comma-delimited list of dbSNPs | ||||
Entry Reference Data:
Field | Comments | ||||
---|---|---|---|---|---|
omim | |||||
referenceLists | |||||
referenceList | |||||
reference | |||||
mimNumber | |||||
referenceNumber | |||||
authors | |||||
title | |||||
source | |||||
pubmedID | |||||
articleUrl | |||||
doi | |||||
The clinical synopsis handler supports the following actions/components:
This is the default case and requires one parameter 'mimNumber' specifying the MIM entry to be retrieved, for example:
https://api.omim.org/api/clinicalSynopsis?mimNumber=100100
Multiple MIM numbers can be specified as follows:
https://api.omim.org/api/clinicalSynopsis?mimNumber=100100&mimNumber=100200
or as follows:
https://api.omim.org/api/clinicalSynopsis?mimNumber=100100,100200
This will return the MIM number, the prefix, the status and the titles.
Additional content can be retrieved using the 'include' parameter, the includes are as follows:
Parameter | Description |
---|---|
clinicalSynopsis | Include the clinical synopsis with the entry. |
existFlags | Include the 'exists' flags with the entry (clinical synopsis, allelic variant, gene map & phenotype map). |
externalLinks | Include the external links with the entry. |
contributors | Include the contributors with the entry. |
creationDate | Include the creation date with the entry. |
editHistory | Include the edit history with the entry. |
dates | Include the dates with the entry. |
all | Include the above data with the entry. |
For example:
https://api.omim.org/api/clinicalSynopsis?mimNumber=100100&include=clinicalSynopsis&include=externalLinks
or:
https://api.omim.org/api/clinicalSynopsis?mimNumber=100100&include=clinicalSynopsis,externalLinks
Finally if all the data was needed, one could just specify:
Parameter | Description |
---|---|
all | Include all the data with the entry. |
For example:
https://api.omim.org/api/clinicalSynopsis?mimNumber=100100&include=all
It is strongly recommended that only the data that is needed is retrieved in a request. Retrieving unneeded data means that your request will take longer than it should.
There is also an 'exclude' parameter to exclude unwanted sections, for example you might want all the data except for the external links:
https://api.omim.org/api/clinicalSynopsis?mimNumber=100100&include=all&exclude=externalLinks
Searching is provided by SOLR and uses the extended dismax parser:
This allows the client to perform a search with the following parameters:
Parameter | Description |
---|---|
search | The search (required) |
filter | The filter (optional) |
fields | The fields, defaults to 'number^5 title^3 default' |
sort | The sort order to use, defaults to 'score desc' |
start | The start offset into the results, default is 0 |
limit | The number of results to return, default is 10 |
For example:
https://api.omim.org/api/clinicalSynopsis/search?search=disorder&start=0&limit=20
Additionally all the parameters listed in the section above also apply, for example:
https://api.omim.org/api/clinicalSynopsis/search?search=disorder&start=0&limit=20&include=all
The 'sort' parameter takes the any of the search fields available in the clinical synopsis index, some useful sort orders include:
Parameter | Description |
---|---|
score desc | for descending score order |
score desc, prefix_sort desc | for descending score order, and descending prefix sort order |
date_created desc | for descending date created order |
date_created asc | for ascending date created order |
date_updated desc | for descending date updated order |
date_updated asc | for ascending date updated order |
For example:
https://api.omim.org/api/clinicalSynopsis/search?search=disorder&sort=score+desc
If unspecified, the sort defaults to 'score desc'. Note that the sort order ('asc' or 'desc') is required.
Note that search can also be done through the search handler, in this case the handler>and the action are flipped, so:
https://api.omim.org/api/clinicalSynopsis/search?search=disorder&start=0&limit=20
is the same as:
https://api.omim.org/api/search/clinicalSynopsis?search=disorder&start=0&limit=20
Clinical Synopsis Data:
Field | Comments | |||
---|---|---|---|---|
omim | ||||
clinicalSynopsisList | ||||
clinicalSynopsis | ||||
mimNumber | ||||
prefix | ||||
preferredTitle | Title taken from the mim entry | |||
inheritance | Features in all fields are delimited with ';' | |||
growth | and include IDs for UMLS, SNOMEDCT, | |||
growthHeight | ICD10CM, ICD9CM and HPO | |||
growthWeight | ||||
growthOther | ||||
headAndNeck | ||||
headAndNeckHead | ||||
headAndNeckFace | ||||
headAndNeckEars | ||||
headAndNeckEyes | ||||
headAndNeckNose | ||||
headAndNeckMouth | ||||
headAndNeckTeeth | ||||
headAndNeckNeck | ||||
cardiovascular | ||||
cardiovascularHeart | ||||
cardiovascularVascular | ||||
respiratory | ||||
respiratoryNasopharynx | ||||
respiratoryLarynx | ||||
respiratoryAirways | ||||
respiratoryLung | ||||
chest | ||||
chestExternalFeatures | ||||
chestRibsSternumClaviclesAndScapulae | ||||
chestBreasts | ||||
chestDiaphragm | ||||
abdomen | ||||
abdomenExternalFeatures | ||||
abdomenLiver | ||||
abdomenPancreas | ||||
abdomenBiliaryTract | ||||
abdomenSpleen | ||||
abdomenGastrointestinal | ||||
genitourinary | ||||
genitourinaryExternalGenitaliaMale | ||||
genitourinaryExternalGenitaliaFemale | ||||
genitourinaryInternalGenitaliaMale | ||||
genitourinaryInternalGenitaliaFemale | ||||
genitourinaryKidneys | ||||
genitourinaryUreters | ||||
genitourinaryBladder | ||||
skeletal | ||||
skeletalSkull | ||||
skeletalSpine | ||||
skeletalPelvis | ||||
skeletalLimbs | ||||
skeletalHands | ||||
skeletalFeet | ||||
skinNailsHair | ||||
skinNailsHairSkin | ||||
skinNailsHairSkinHistology | ||||
skinNailsHairSkinElectronMicroscopy | ||||
skinNailsHairNails | ||||
skinNailsHairHair | ||||
muscleSoftTissue | ||||
neurologic | ||||
neurologicCentralNervousSystem | ||||
neurologicPeripheralNervousSystem | ||||
neurologicBehavioralPsychiatricManifestations | ||||
voice | ||||
metabolicFeatures | ||||
endocrineFeatures | ||||
hematology | ||||
immunology | ||||
neoplasia | ||||
prenatalManifestations | ||||
prenatalManifestationsMovement | ||||
prenatalManifestationsAmnioticFluid | ||||
prenatalManifestationsPlacentaAndUmbilicalCord | ||||
prenatalManifestationsMaternal | ||||
prenatalManifestationsDelivery | ||||
laboratoryAbnormalities | ||||
miscellaneous | ||||
molecularBasis | ||||
inheritanceExists | true if this contains data (ii) | |||
growthExists | true if this and any its subheadings contain data (i) | |||
growthHeightExists | (ii) | |||
growthWeightExists | (ii) | |||
growthOtherExists | (ii) | |||
headAndNeckExists | (i) | |||
headAndNeckHeadExists | (ii) | |||
headAndNeckFaceExists | (ii) | |||
headAndNeckEarsExists | (ii) | |||
headAndNeckEyesExists | (ii) | |||
headAndNeckNoseExists | (ii) | |||
headAndNeckMouthExists | (ii) | |||
headAndNeckTeethExists | (ii) | |||
headAndNeckNeckExists | (ii) | |||
cardiovascularExists | (i) | |||
cardiovascularHeartExists | (ii) | |||
cardiovascularVascularExists | (ii) | |||
respiratoryExists | (i) | |||
respiratoryNasopharynxExists | (ii) | |||
respiratoryLarynxExists | (ii) | |||
respiratoryAirwaysExists | (ii) | |||
respiratoryLungExists | (ii) | |||
chestExists | (i) | |||
chestExternalFeaturesExists | (ii) | |||
chestRibsSternumClaviclesAndScapulaeExists | (ii) | |||
chestBreastsExists | (ii) | |||
chestDiaphragmExists | (ii) | |||
abdomenExists | (i) | |||
abdomenExternalFeaturesExists | (ii) | |||
abdomenLiverExists | (ii) | |||
abdomenPancreasExists | (ii) | |||
abdomenBiliaryTractExists | (ii) | |||
abdomenSpleenExists | (ii) | |||
abdomenGastrointestinalExists | (ii) | |||
genitourinaryExists | (i) | |||
genitourinaryExternalGenitaliaMaleExists | (ii) | |||
genitourinaryExternalGenitaliaFemaleExists | (ii) | |||
genitourinaryInternalGenitaliaMaleExists | (ii) | |||
genitourinaryInternalGenitaliaFemaleExists | (ii) | |||
genitourinaryKidneysExists | (ii) | |||
genitourinaryUretersExists | (ii) | |||
genitourinaryBladderExists | (ii) | |||
skeletalExists | (i) | |||
skeletalSkullExists | (ii) | |||
skeletalSpineExists | (ii) | |||
skeletalPelvisExists | (ii) | |||
skeletalLimbsExists | (ii) | |||
skeletalHandsExists | (ii) | |||
skeletalFeetExists | (ii) | |||
skinNailsHairExists | (i) | |||
skinNailsHairSkinExists | (ii) | |||
skinNailsHairSkinHistologyExists | (ii) | |||
skinNailsHairSkinElectronMicroscopyExists | (ii) | |||
skinNailsHairNailsExists | (ii) | |||
skinNailsHairHairExists | (ii) | |||
muscleSoftTissueExists | (ii) | |||
neurologicExists | (i) | |||
neurologicCentralNervousSystemExists | (ii) | |||
neurologicPeripheralNervousSystemExists | (ii) | |||
neurologicBehavioralPsychiatricManifestationsExists | (ii) | |||
voiceExists | (ii) | |||
metabolicFeaturesExists | (ii) | |||
endocrineFeaturesExists | (ii) | |||
hematologyExists | (ii) | |||
immunologyExists | (ii) | |||
neoplasiaExists | (ii) | |||
prenatalManifestationsExists | (i) | |||
prenatalManifestationsMovementExists | (ii) | |||
prenatalManifestationsAmnioticFluidExists | (ii) | |||
prenatalManifestationsPlacentaAndUmbilicalCordExists | (ii) | |||
prenatalManifestationsMaternalExists | (ii) | |||
prenatalManifestationsDeliveryExists | (ii) | |||
laboratoryAbnormalitiesExists | (i) | |||
miscellaneousExists | (ii) | |||
molecularBasisExists | (ii) | |||
oldFormat | Old format clinical synopsis, will be remapped to new format | |||
externalLinks | See above for external links | |||
contributors | ||||
creationDate | ||||
editHistory | ||||
dateCreated | Web date | |||
epochCreated | Unix epoch | |||
dateUpdated | Web date | |||
epochUpdated | Unix epoch | |||
The gene map handler supports the following actions/components:
This is the default case and supports three different parameters to retrieve data ('chromosomeSort' is a sub-parameter of 'chromosome'):
Parameter | Description |
---|---|
sequenceID | The sequence ID in the gene map (these are sequential integer values with no breaks and are not stable beyond the scope of a day). |
mimNumber | The mim number. |
chromosome | The chromosome, 1-22, 23 (X), 24 (Y), 25 (M), X, Y, M (mitochondria), A (autosomal group), S (XY group) |
chromosomeSort | The chromosome sort in the chromosome (these are sequential integer values with no breaks and are not stable beyond the scope of a day). |
The 'sequenceID' and 'chromosome/chromosomeSort' parameters also support the 'start' and 'limit' parameters to support navigation across the map:
Parameter | Description |
---|---|
start | The start offset into the gene map, default is 0 (can be negative when getting a list from a sequence ID |
limit | The number of entries to return, default is 10 |
Additionally the 'phenotypeExists' flag can be used to restrict the entries returned to those with or without phenotypes, the default is to return all entries:
Parameter | Description |
---|---|
Description | |
phenotypeExists | 'true' will only return entries with phenotypes, 'false' will only return entries without phenotypes |
For example, to retrieve the gene map entry for 100100:
https://api.omim.org/api/geneMap?mimNumber=100100
Multiple MIM numbers can be specified as follows:
https://api.omim.org/api/geneMap?mimNumber=100100&mimNumber=100200
Or as follows:
https://api.omim.org/api/geneMap?mimNumber=100100,100200
To retrieve the gene map entry for sequence ID 10:
https://api.omim.org/api/geneMap?sequenceID=10
To retrieve the next 10 entries in the gene map starting from sequence ID 10:
https://api.omim.org/api/geneMap?sequenceID=10&limit=10
To get the subsequent 10 entries, the url would be:
https://api.omim.org/api/geneMap?sequenceID=20&limit=10
In the two cases above the 'start' parameter defaults to 0, but you can set to a negative value:
https://api.omim.org/api/geneMap?sequenceID=20&start=-4&limit=10
To retrieve the first 10 entries in the gene map for chromosome 1, the url would be:
https://api.omim.org/api/geneMap?chromosome=1&start=0&limit=10
And to retrieve the next 10 entries, the url would be:
https://api.omim.org/api/geneMap?chromosome=1&start=10&limit=10
The 'chromosomeSort' parameter can also be used to retrieve entries on a chromosome.
To retrieve the first 10 entries in the gene map for chromosome 1, the url would be:
https://api.omim.org/api/geneMap?chromosome=1&chromosomeSort=1limit=10
And to retrieve the next 10 entries, the url would be:
https://api.omim.org/api/geneMap?chromosome=1&chromosomeSort=10&limit=10
This can be mixed with 'start' parameter as well:
https://api.omim.org/api/geneMap?chromosome=1&chromosomeSort=1&start=1&limit=10
The 'sequenceID' and 'chromosomeSort' parameters should not be considered stable beyond the scope of a day (the gene map is updated on a daily basis).
Searching is provided by SOLR and uses the extended dismax parser:
This allows the client to perform a search with the following parameters:
Parameter | Description |
---|---|
search | The search (required) |
filter | The filter (optional) |
fields | The fields, defaults to 'default' |
sort | The sort order to use, defaults to 'score desc' |
start | The start offset into the results, default is 0 |
limit | The number of results to return, default is 10 |
For example:
https://api.omim.org/api/geneMap/search?search=kinase&start=0&limit=20
The 'sort' parameter takes the any of the search fields available in the gene map index, some useful sort orders include:
Parameter | Description |
---|---|
score desc | for descending score order |
chromosome_number asc | for ascending chromosome number order |
chromosome_number asc, chromosome_location_start asc | for ascending chromosome number order, and chromosome location start order |
If unspecified, the sort defaults to 'score desc'. Note that the sort order ('asc' or 'desc') is required.
Note that search can also be done through the search handler, in this case the handler and the action are flipped, so:
https://api.omim.org/api/geneMap/search?search=kinase&start=0&limit=20
is the same as:
https://api.omim.org/api/search/geneMap?search=kinase&start=0&limit=20
Gene Map Data:
Field | Comments | ||||||
---|---|---|---|---|---|---|---|
omim | |||||||
listResponse | |||||||
chromosome | 1-24 | ||||||
chromosomeSymbol | 1-22, X, Y | ||||||
totalResults | |||||||
startIndex | |||||||
endIndex | |||||||
geneMapList | |||||||
geneMap | |||||||
sequenceID | |||||||
chromosome | 1-24 | ||||||
chromosomeSymbol | 1-22, X, Y | ||||||
chromosomeSort | |||||||
chromosomeLocationStart | (if available) | ||||||
chromosomeLocationEnd | (if available) | ||||||
transcript | (if available) | ||||||
cytoLocation | |||||||
computedCytoLocation | (if available) | ||||||
mimNumber | |||||||
molecularSeriesNumber | Comma delimited list of molecular series numbers | ||||||
geneSymbols | Comma delimited list of symbols | ||||||
geneName | |||||||
references | |||||||
comments | |||||||
mouseGeneSymbol | |||||||
mouseMgiID | |||||||
approvedGeneSymbols | |||||||
geneIDs | |||||||
ensemblIDs | |||||||
phenotypeMapList | |||||||
phenotypeMap | |||||||
mimNumber | |||||||
phenotype | |||||||
phenotypeMimNumber | |||||||
phenotypicSeriesNumber | Comma delimited list of phenotypic series numbers | ||||||
phenotypeMappingKey | |||||||
phenotypeInheritance | |||||||
The 'search' handler is used for searching and is covered in the four handlers above.
Search Response Data:
Field | Comments | ||
---|---|---|---|
omim | |||
searchResponse | |||
search | |||
expandedSearch | |||
parsedSearch | |||
searchSuggestion | |||
searchSpelling | |||
filter | |||
expandedFilter | |||
fields | |||
searchReport | |||
totalResults | |||
startIndex | |||
endIndex | |||
sort | |||
searchTime | |||
*List | List of enty/clinicalSynopsis/geneMap/phenotypeMap | ||
The 'status' handler can be used to check the API status.
For example:
The apiKey handler allows the API html interface to set an API key in the browser cookies. It supports only one parameter:
Parameter | Description |
---|---|
apiKey | The api key |
For example to set a key in the browser cookies ('POST' method only):
https://api.omim.org/api/apiKey?apiKey=foo
And to remove a key from the browser cookies ('DELETE' method only):
https://api.omim.org/api/apiKey
This is here only to support the API html interface.
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