Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI751/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1589", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0076, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0072, "KGP_genomes_EAS_maf": 0.003, "KGP_genomes_EUR_maf": 0.007, "KGP_genomes_SAS_maf": 0.0235, "gnomad_maf": 0.008905, "gnomad_AFR_maf": 0.001353, "gnomad_AMR_maf": 0.003498, "gnomad_ASJ_maf": 0.02203, "gnomad_EAS_maf": 0.0006524, "gnomad_FIN_maf": 0.02171, "gnomad_NFE_maf": 0.006139, "gnomad_OTH_maf": 0.01059, "gnomad_SAS_maf": 0.02054, "ESP_AA_maf": 0.001362, "ESP_EA_maf": 0.004651 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.761017, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 236180498, "genomic_position_hg38": 236017198, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.091852", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2204G>A", "protein_change": "p.Arg735His", "transcript_id": "NM_002508.2", "dbsnp_id": "rs140374909", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI723" }, { "type": "Combination", "id": "OLI751" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1589/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1589/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1589/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1589/gene/?format=api" }, "data": { "type": "Gene", "id": "NID1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1589/?format=api" } }, { "type": "SmallVariant", "id": "1660", "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": 0.0001324, "gnomad_AFR_maf": 0.0001576, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0001905, "gnomad_SAS_maf": 0.0008923, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.819501, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 1277795, "genomic_position_hg38": 1342415, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.543650", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.310C>T", "protein_change": "p.Pro104Ser", "transcript_id": "NM_001330311.1", "dbsnp_id": "rs776308675", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI751" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1660/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1660/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1660/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1660/gene/?format=api" }, "data": { "type": "Gene", "id": "DVL1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1660/?format=api" } }, { "type": "SmallVariant", "id": "1661", "attributes": { "frequencies": { "KGP_genomes_maf": 0.005, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0245, "gnomad_maf": 0.002136, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.784e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001089, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.759e-05, "gnomad_OTH_maf": 0.0009785, "gnomad_SAS_maf": 0.01715, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.767552, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 47098588, "genomic_position_hg38": 47057098, "chromosome": "3", "annotation_flag": "manually_attributed", "lastmodified": "2023-12-19T09:27:46.216701", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.6686T>G", "protein_change": "p.Val2229Gly", "transcript_id": "NM_014159.7", "dbsnp_id": "rs377066147", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI751" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1661/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1661/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1661/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1661/gene/?format=api" }, "data": { "type": "Gene", "id": "SETD2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1661/?format=api" } }, { "type": "SmallVariant", "id": "1662", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0024, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0092, "gnomad_maf": 0.001552, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0008678, "gnomad_ASJ_maf": 0.000199, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0004752, "gnomad_OTH_maf": 0.0006521, "gnomad_SAS_maf": 0.009768, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.001047 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.948156, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 132159914, "genomic_position_hg38": 132824222, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.556302", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1439C>T", "protein_change": "p.Pro480Leu", "transcript_id": "NM_001172700.1", "dbsnp_id": "rs151268300", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI751" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1662/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1662/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1662/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1662/gene/?format=api" }, "data": { "type": "Gene", "id": "SHROOM1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1662/?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": 4 } }