Gene Instance
This API endpoint handles listing (/genes) and retrieval (/genes/<ID>/) of genes that are contained in the database due to their association to
genetic variants that are involved in at least one oligogenic combination in OLIDA.
GET /api/genes/RYR2/?format=api
{ "data": { "type": "Gene", "id": "RYR2", "attributes": { "go_molecular_function": [ "['protein kinase A regulatory subunit binding', 'enzyme binding', 'calcium-induced calcium release activity', 'calcium channel activity', 'protein self-association', 'transmembrane transporter binding', 'calcium ion binding', 'ryanodine-sensitive calcium-release channel activity', 'calcium-release channel activity', 'calmodulin binding', 'protein binding', 'protein kinase A catalytic subunit binding', 'identical protein binding', 'suramin binding']" ], "pathway_id": [ "kegg_path:hsa04020", "kegg_path:hsa04024", "kegg_path:hsa04260", "kegg_path:hsa04261", "kegg_path:hsa04371", "kegg_path:hsa04713", "kegg_path:hsa04911", "kegg_path:hsa04921", "kegg_path:hsa04972", "kegg_path:hsa05020", "kegg_path:hsa05022", "kegg_path:hsa05410", "kegg_path:hsa05412", "kegg_path:hsa05414", "R-HSA-2672351", "R-HSA-382551", "R-HSA-397014", "R-HSA-5576891", "R-HSA-5578775", "R-HSA-983712" ], "essential_gene": "Essential", "status": null, "uniprot_acc": "Q92736", "ensembl_id": "None", "entrez_id": "ENSG00000198626", "chromosome_number": "1" }, "relationships": { "variant_set": { "meta": { "count": 3 }, "data": [ { "type": "SmallVariant", "id": "1401" }, { "type": "SmallVariant", "id": "2125" }, { "type": "SmallVariant", "id": "3074" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/RYR2/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/genes/RYR2/variants/?format=api" } }, "genecombination_set": { "meta": { "count": 3 }, "data": [ { "type": "GeneCombination", "id": "441" }, { "type": "GeneCombination", "id": "732" }, { "type": "GeneCombination", "id": "1031" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/RYR2/relationships/genecombination_set?format=api", "related": "https://olida.ibsquare.be/api/genes/RYR2/genecombinations/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/genes/RYR2/?format=api" } }, "meta": { "database_name": "OLIgogenic diseases DAtabase (OLIDA)", "resource_url": "olida.ibsquare.be", "api_release_year": "2021", "api_developer": [ [ "Arnau Dillen", "arnau.dillen@ulb.ac.be" ], [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_version": "0.3", "api_maintainers": [ [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_documentation": [ "olida.ibsquare.be/api/swagger", "olida.ibsquare.be/api/redoc" ], "copyright": "Copyright (c) 2025 · OLIDA All Rights Reserved.", "license": "CC Attribution-NonCommercial 4.0 International License", "ontologies": { "ORDO": "http://bioportal.bioontology.org/ontologies/ORDO", "GENO": "http://purl.obolibrary.org/obo/geno.owl", "MI": "http://purl.obolibrary.org/obo/mi.owl", "NCIT": "http://purl.obolibrary.org/obo/ncit.owl", "OGI": "http://purl.obolibrary.org/obo/ogi.owl", "OGG": "http://purl.obolibrary.org/obo/ogg.owl" }, "relevant_publications_doi": [ "10.1093/nar/gkv1068", "10.1093/database/baac023" ], "lastmodified": "2021-10-18T11:00:44.864866", "status": "CU", "curator": null, "submitter": "cnachteg" } }