Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI646/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1396", "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": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.545827, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 170846529, "genomic_position_hg38": 171128740, "chromosome": "3", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:48.861155", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1660C>A", "protein_change": "p.Pro554Thr", "transcript_id": "NM_001161562.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI646" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1396/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1396/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1396/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1396/gene/?format=api" }, "data": { "type": "Gene", "id": "TNIK" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1396/?format=api" } }, { "type": "SmallVariant", "id": "1397", "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": 3.991e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.843e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.490503, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 144459949, "genomic_position_hg38": 143538796, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.867893", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.1628A>G", "protein_change": "p.Asn543Ser", "transcript_id": "NM_003601.3", "dbsnp_id": "rs765414474", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI646" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1397/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1397/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1397/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1397/gene/?format=api" }, "data": { "type": "Gene", "id": "SMARCA5" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1397/?format=api" } }, { "type": "SmallVariant", "id": "1398", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0031, "gnomad_maf": 0.000342, "gnomad_AFR_maf": 0.0, "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": 0.0003305, "gnomad_SAS_maf": 0.002758, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.233503, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2029232, "genomic_position_hg38": 2029232, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.874713", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.210G>A", "protein_change": "p.Met70Ile", "transcript_id": "NM_001289396.1", "dbsnp_id": "rs529054959", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI646" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1398/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1398/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1398/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1398/gene/?format=api" }, "data": { "type": "Gene", "id": "SMARCA2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1398/?format=api" } }, { "type": "SmallVariant", "id": "1399", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0016, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.005, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.001514, "gnomad_AFR_maf": 0.0001868, "gnomad_AMR_maf": 0.0004637, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001267, "gnomad_NFE_maf": 0.002297, "gnomad_OTH_maf": 0.001647, "gnomad_SAS_maf": 0.002062, "ESP_AA_maf": 0.0004543, "ESP_EA_maf": 0.00291 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.575564, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 63884923, "genomic_position_hg38": 64117451, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.881453", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1184C>T", "protein_change": "p.Thr395Met", "transcript_id": "NM_013280.4", "dbsnp_id": "rs138676741", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI646" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1399/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1399/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1399/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1399/gene/?format=api" }, "data": { "type": "Gene", "id": "FLRT1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1399/?format=api" } }, { "type": "SmallVariant", "id": "1400", "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": 0.0, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 3.181e-05, "gnomad_AFR_maf": 0.0, "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": 0.0, "gnomad_SAS_maf": 0.0002613, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.604434, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 54963377, "genomic_position_hg38": 54569593, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.888285", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.47C>G", "protein_change": "p.Ala16Gly", "transcript_id": "NM_001288768.1", "dbsnp_id": "rs571112837", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI646" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1400/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1400/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1400/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1400/gene/?format=api" }, "data": { "type": "Gene", "id": "PDE1B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1400/?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": 5 } }