Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI591/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1253", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0078, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0202, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0239, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.008145, "gnomad_AFR_maf": 0.001293, "gnomad_AMR_maf": 0.01541, "gnomad_ASJ_maf": 0.008342, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.002684, "gnomad_NFE_maf": 0.01049, "gnomad_OTH_maf": 0.008966, "gnomad_SAS_maf": 0.003397, "ESP_AA_maf": 0.00182, "ESP_EA_maf": 0.007911 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.302709, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 45397993, "genomic_position_hg38": 45105795, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.025792", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Ala728Thr", "transcript_id": null, "dbsnp_id": "rs138353181", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI591" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1253/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1253/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1253/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1253/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOX2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1253/?format=api" } }, { "type": "SmallVariant", "id": "1254", "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": 4.381e-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": 8.819e-06, "gnomad_OTH_maf": 0.0001631, "gnomad_SAS_maf": 0.000294, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 2.591101, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 107315558, "genomic_position_hg38": 107675113, "chromosome": "7", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:48.032062", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.765+4A>C", "protein_change": null, "transcript_id": "NM_000441.2", "dbsnp_id": "rs774353111", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI591" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1254/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1254/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1254/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1254/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC26A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1254/?format=api" } }, { "type": "SmallVariant", "id": "1255", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.00131, "gnomad_AFR_maf": 6.457e-05, "gnomad_AMR_maf": 2.896e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.007281, "gnomad_NFE_maf": 0.001395, "gnomad_OTH_maf": 0.001649, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0009454 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Unknown", "cadd_prediction": 3.380881, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 114000341, "genomic_position_hg38": 113242764, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.038217", "ref_allele": "T", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Lys135Arg", "transcript_id": null, "dbsnp_id": "rs190431939", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI591" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1255/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1255/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1255/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1255/gene/?format=api" }, "data": { "type": "Gene", "id": "PAX8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1255/?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 } }