Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI855/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1826", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "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": 0.0, "gnomad_maf": 0.0002227, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.002936, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.000163, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.999773, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 5283308, "genomic_position_hg38": 5302662, "chromosome": "20", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.534556", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.533G>C", "protein_change": "p.Trp178Ser", "transcript_id": "NM_144773.3", "dbsnp_id": "rs201835496", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 18 }, "data": [ { "type": "Combination", "id": "OLI833" }, { "type": "Combination", "id": "OLI836" }, { "type": "Combination", "id": "OLI848" }, { "type": "Combination", "id": "OLI851" }, { "type": "Combination", "id": "OLI855" }, { "type": "Combination", "id": "OLI859" }, { "type": "Combination", "id": "OLI862" }, { "type": "Combination", "id": "OLI890" }, { "type": "Combination", "id": "OLI892" }, { "type": "Combination", "id": "OLI895" }, { "type": "Combination", "id": "OLI899" }, { "type": "Combination", "id": "OLI900" }, { "type": "Combination", "id": "OLI1016" }, { "type": "Combination", "id": "OLI1337" }, { "type": "Combination", "id": "OLI1338" }, { "type": "Combination", "id": "OLI1356" }, { "type": "Combination", "id": "OLI834" }, { "type": "Combination", "id": "OLI847" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1826/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1826/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1826/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1826/gene/?format=api" }, "data": { "type": "Gene", "id": "PROKR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1826/?format=api" } }, { "type": "SmallVariant", "id": "1872", "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": 0.0001473, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001905, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 6.533e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.507118, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 50866178, "genomic_position_hg38": 53339808, "chromosome": "18", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.820335", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2260G>A", "protein_change": "p.Val754Met", "transcript_id": "NM_005215.3", "dbsnp_id": "rs775565634", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI855" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1872/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1872/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1872/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1872/gene/?format=api" }, "data": { "type": "Gene", "id": "DCC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1872/?format=api" } }, { "type": "SmallVariant", "id": "1873", "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": 4.326e-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": 9.309e-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": "Damaging", "cadd_prediction": 3.516941, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 116340228, "genomic_position_hg38": 116700174, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.826861", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1090G>A", "protein_change": "p.Ala364Thr", "transcript_id": "NM_000245.3", "dbsnp_id": "rs200016433", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI855" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1873/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1873/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1873/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1873/gene/?format=api" }, "data": { "type": "Gene", "id": "MET" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1873/?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 } }