Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/ITPR1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "670", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.00157, "gnomad_AFR_maf": 0.0003875, "gnomad_AMR_maf": 0.0001739, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.57e-05, "gnomad_FIN_maf": 0.007287, "gnomad_NFE_maf": 0.001879, "gnomad_OTH_maf": 0.001324, "gnomad_SAS_maf": 3.268e-05, "ESP_AA_maf": 0.0002601, "ESP_EA_maf": 0.001206 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.276613, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 4725445, "genomic_position_hg38": 4683761, "chromosome": "3", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.466548", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.3416A>G", "protein_change": "p.Asp1139Gly", "transcript_id": "NM_001168272.2", "dbsnp_id": "rs61751570", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI331" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/670/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/670/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/670/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/670/gene/?format=api" }, "data": { "type": "Gene", "id": "ITPR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/670/?format=api" } }, { "type": "SmallVariant", "id": "679", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": 0.0001768, "gnomad_AFR_maf": 0.0001937, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001069, "gnomad_NFE_maf": 0.0001508, "gnomad_OTH_maf": 0.0001655, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001205 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.42354, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 4776859, "genomic_position_hg38": 4735175, "chromosome": "3", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.526698", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.5320G>A", "protein_change": "p.Gly1774Arg", "transcript_id": "NM_001168272.2", "dbsnp_id": "rs373359869", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI332" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/679/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/679/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/679/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/679/gene/?format=api" }, "data": { "type": "Gene", "id": "ITPR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/679/?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" ], "Variant serializers": [ "SmallVariantSerializer", "CopyNumberVariantSerializer" ], "size": 2 } }