Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI584/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1237", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.0009464, "gnomad_AFR_maf": 0.0001845, "gnomad_AMR_maf": 0.001041, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0004158, "gnomad_NFE_maf": 0.001204, "gnomad_OTH_maf": 0.001629, "gnomad_SAS_maf": 0.001404, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.001047 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.489046, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 10625624, "genomic_position_hg38": 10644976, "chromosome": "20", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.934776", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg744Gln", "transcript_id": null, "dbsnp_id": "rs147809756", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI584" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1237/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1237/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1237/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1237/gene/?format=api" }, "data": { "type": "Gene", "id": "JAG1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1237/?format=api" } }, { "type": "SmallVariant", "id": "1238", "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": 2.812e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.904e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.739e-05, "gnomad_NFE_maf": 4.441e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.524355, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 133912558, "genomic_position_hg38": 132900313, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.940696", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Arg1136Gln", "transcript_id": null, "dbsnp_id": "rs750140968", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI584" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1238/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1238/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1238/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1238/gene/?format=api" }, "data": { "type": "Gene", "id": "TG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1238/?format=api" } }, { "type": "SmallVariant", "id": "1239", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.002408, "gnomad_AFR_maf": 0.0003694, "gnomad_AMR_maf": 0.001099, "gnomad_ASJ_maf": 0.0001985, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0005094, "gnomad_NFE_maf": 0.004338, "gnomad_OTH_maf": 0.002611, "gnomad_SAS_maf": 0.001274, "ESP_AA_maf": 0.0006809, "ESP_EA_maf": 0.004419 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Unknown", "cadd_prediction": 0.586934, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 133919047, "genomic_position_hg38": 132906802, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.946761", "ref_allele": "G", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg1250Leu", "transcript_id": null, "dbsnp_id": "rs114944116", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI584" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1239/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1239/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1239/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1239/gene/?format=api" }, "data": { "type": "Gene", "id": "TG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1239/?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 } }