Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/USH1C/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "216", "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": 0.0002803, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0003777, "gnomad_ASJ_maf": 0.00199, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0003104, "gnomad_OTH_maf": 0.0003281, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002423 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.69193, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 17552955, "genomic_position_hg38": 17531408, "chromosome": "11", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:41.792525", "ref_allele": "C", "alt_allele": "CG", "cdna_change": "c.238_239dupC", "protein_change": "p.Arg80fsTer69", "transcript_id": "NM_153676.4", "dbsnp_id": "rs397515359", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI104" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/216/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/216/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/216/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/216/gene/?format=api" }, "data": { "type": "Gene", "id": "USH1C" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/216/?format=api" } }, { "type": "SmallVariant", "id": "512", "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": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.081347, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 17519762, "genomic_position_hg38": 17498215, "chromosome": "11", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:43.544809", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.2437T>G", "protein_change": "p.Tyr813Asp", "transcript_id": "NM_153676.4", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI263" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/512/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/512/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/512/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/512/gene/?format=api" }, "data": { "type": "Gene", "id": "USH1C" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/512/?format=api" } }, { "type": "SmallVariant", "id": "2242", "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": 0.0004859, "gnomad_AFR_maf": 0.0001311, "gnomad_AMR_maf": 0.00044, "gnomad_ASJ_maf": 0.0004165, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0008185, "gnomad_OTH_maf": 0.0003399, "gnomad_SAS_maf": 0.0001722, "ESP_AA_maf": 0.0002273, "ESP_EA_maf": 0.0008155 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.929488, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 17531093, "genomic_position_hg38": 17509546, "chromosome": "11", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.079362", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1823C>G", "protein_change": "p.Pro608Arg", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1037" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2242/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2242/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2242/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2242/gene/?format=api" }, "data": { "type": "Gene", "id": "USH1C" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2242/?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": 3 } }