Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1256/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2651", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0184, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0418, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0408, "KGP_genomes_SAS_maf": 0.0215, "gnomad_maf": 0.03806, "gnomad_AFR_maf": 0.008001, "gnomad_AMR_maf": 0.03245, "gnomad_ASJ_maf": 0.09321, "gnomad_EAS_maf": 0.0001088, "gnomad_FIN_maf": 0.01183, "gnomad_NFE_maf": 0.05254, "gnomad_OTH_maf": 0.05479, "gnomad_SAS_maf": 0.02639, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.266502, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 68174189, "genomic_position_hg38": 68406721, "chromosome": "11", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.407236", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1999G>A", "protein_change": "p.Val667Met", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1253" }, { "type": "Combination", "id": "OLI1256" }, { "type": "Combination", "id": "OLI1258" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2651/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2651/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2651/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2651/gene/?format=api" }, "data": { "type": "Gene", "id": "LRP5" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2651/?format=api" } }, { "type": "SmallVariant", "id": "2648", "attributes": { "frequencies": { "KGP_genomes_maf": 0.116, "KGP_genomes_AFR_maf": 0.0219, "KGP_genomes_AMR_maf": 0.1542, "KGP_genomes_EAS_maf": 0.2034, "KGP_genomes_EUR_maf": 0.1342, "KGP_genomes_SAS_maf": 0.1074, "gnomad_maf": 0.1341, "gnomad_AFR_maf": 0.04334, "gnomad_AMR_maf": 0.1869, "gnomad_ASJ_maf": 0.1151, "gnomad_EAS_maf": 0.2038, "gnomad_FIN_maf": 0.04337, "gnomad_NFE_maf": 0.1391, "gnomad_OTH_maf": 0.1367, "gnomad_SAS_maf": 0.1298, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.604804, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 68201295, "genomic_position_hg38": 68433827, "chromosome": "11", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.388593", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3989C>T", "protein_change": "p.Ala1330Val", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI1251" }, { "type": "Combination", "id": "OLI1253" }, { "type": "Combination", "id": "OLI1256" }, { "type": "Combination", "id": "OLI1258" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2648/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2648/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2648/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2648/gene/?format=api" }, "data": { "type": "Gene", "id": "LRP5" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2648/?format=api" } }, { "type": "SmallVariant", "id": "2646", "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 1.400418, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 46724716, "genomic_position_hg38": 46703166, "chromosome": "11", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.375785", "ref_allele": "CAGTGGTGACAGA", "alt_allele": "C", "cdna_change": "c.581_592del", "protein_change": "p.Val194_Val197del", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 6 }, "data": [ { "type": "Combination", "id": "OLI1250" }, { "type": "Combination", "id": "OLI1254" }, { "type": "Combination", "id": "OLI1255" }, { "type": "Combination", "id": "OLI1256" }, { "type": "Combination", "id": "OLI1258" }, { "type": "Combination", "id": "OLI1259" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2646/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2646/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2646/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2646/gene/?format=api" }, "data": { "type": "Gene", "id": "ZNF408" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2646/?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 } }