Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI589/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1245", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001432, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 8.678e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001087, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002639, "gnomad_OTH_maf": 0.0001631, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002326 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.267825, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 81558891, "genomic_position_hg38": 81092547, "chromosome": "14", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.983205", "ref_allele": "C", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Pro162Ala", "transcript_id": null, "dbsnp_id": "rs121908863", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI586" }, { "type": "Combination", "id": "OLI589" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1245/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1245/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1245/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1245/gene/?format=api" }, "data": { "type": "Gene", "id": "TSHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1245/?format=api" } }, { "type": "SmallVariant", "id": "1250", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "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": 1.989e-05, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.518e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.775512, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 81554306, "genomic_position_hg38": 81087962, "chromosome": "14", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.007403", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Arg109Gln", "transcript_id": null, "dbsnp_id": "rs121908865", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI589" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1250/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1250/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1250/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1250/gene/?format=api" }, "data": { "type": "Gene", "id": "TSHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1250/?format=api" } }, { "type": "SmallVariant", "id": "1251", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001966, "gnomad_AFR_maf": 0.002203, "gnomad_AMR_maf": 0.00142, "gnomad_ASJ_maf": 0.003361, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0005263, "gnomad_NFE_maf": 0.003182, "gnomad_OTH_maf": 0.002439, "gnomad_SAS_maf": 0.0004427, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.207346, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 100616939, "genomic_position_hg38": 97854657, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.013330", "ref_allele": "C", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Ala248Gly", "transcript_id": null, "dbsnp_id": "rs538912281", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI589" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1251/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1251/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1251/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1251/gene/?format=api" }, "data": { "type": "Gene", "id": "FOXE1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1251/?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 } }