Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI532/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1121", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.003, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0002371, "gnomad_AFR_maf": 0.003238, "gnomad_AMR_maf": 0.0002121, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 9.746e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.00307, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.348163, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 72360608, "genomic_position_hg38": 70600852, "chromosome": "10", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.259178", "ref_allele": "CA", "alt_allele": "C", "cdna_change": "c.50delT", "protein_change": "p.Leu17ArgfsTer34", "transcript_id": "NM_005041.5", "dbsnp_id": "rs147035858", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI532" }, { "type": "Combination", "id": "OLI538" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1121/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1121/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1121/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1121/gene/?format=api" }, "data": { "type": "Gene", "id": "PRF1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1121/?format=api" } }, { "type": "SmallVariant", "id": "1122", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0192, "KGP_genomes_AFR_maf": 0.0711, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003947, "gnomad_AFR_maf": 0.0563, "gnomad_AMR_maf": 0.001214, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001936, "gnomad_OTH_maf": 0.0004892, "gnomad_SAS_maf": 0.0003266, "ESP_AA_maf": 0.05243, "ESP_EA_maf": 0.0002326 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.641445, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73831953, "genomic_position_hg38": 75835872, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.265364", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1579C>T", "protein_change": "p.Arg527Trp", "transcript_id": "NM_199242.3", "dbsnp_id": "rs75366116", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI532" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1122/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1122/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1122/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1122/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1122/?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 } }