Variant Instance
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/variants/990/?format=api
{ "data": { "type": "SmallVariant", "id": "990", "attributes": { "frequencies": { "KGP_genomes_maf": 0.003, "KGP_genomes_AFR_maf": 0.0106, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0005777, "gnomad_AFR_maf": 0.007845, "gnomad_AMR_maf": 0.0003763, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.762e-05, "gnomad_OTH_maf": 0.0004905, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.004539, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.96718, "mutationtaster_prediction": "Polymorphism" }, "status": null, "genomic_position_hg19": 21225491, "genomic_position_hg38": 21002619, "chromosome": "2", "annotation_flag": "automatically_attributed", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.12803T>C", "protein_change": "p.Met4268Thr", "transcript_id": "NM_000384.2", "dbsnp_id": "rs72654422", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI463" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/990/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/990/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/990/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/990/gene/?format=api" }, "data": { "type": "Gene", "id": "APOB" } }, "submitter": { "data": null }, "curator": { "data": null } }, "links": { "self": "https://olida.ibsquare.be/api/variants/990/?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": "2023-06-06T16:57:46.449238", "status": "CU", "curator": null, "submitter": "cnachteg" } }