Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1086/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2366", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0056, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0258, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.003309, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 4.152e-05, "gnomad_ASJ_maf": 0.003565, "gnomad_EAS_maf": 0.03078, "gnomad_FIN_maf": 0.006716, "gnomad_NFE_maf": 0.0001722, "gnomad_OTH_maf": 0.001812, "gnomad_SAS_maf": 0.001105, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.534282, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 155596114, "genomic_position_hg38": 155803420, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.840631", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.869G>A", "protein_change": "p.Gly290Asp", "transcript_id": "NM_000193.4", "dbsnp_id": "rs104894047", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI1085" }, { "type": "Combination", "id": "OLI1086" }, { "type": "Combination", "id": "OLI1487" }, { "type": "Combination", "id": "OLI1503" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2366/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2366/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2366/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2366/gene/?format=api" }, "data": { "type": "Gene", "id": "SHH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2366/?format=api" } }, { "type": "SmallVariant", "id": "471", "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": 0.0003586, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.004786, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.763e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 5.579128, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 107323898, "genomic_position_hg38": 107683453, "chromosome": "7", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:43.287758", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.919-2A>G", "protein_change": null, "transcript_id": "NM_000441.1", "dbsnp_id": "rs111033313", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1086" }, { "type": "Combination", "id": "OLI1488" }, { "type": "Combination", "id": "OLI241" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/471/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/471/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/471/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/471/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC26A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/471/?format=api" } }, { "type": "SmallVariant", "id": "2357", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0004017, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.00435, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.518e-05, "gnomad_OTH_maf": 0.0003262, "gnomad_SAS_maf": 0.0004573, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.937401, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 38166170, "genomic_position_hg38": 37700498, "chromosome": "1", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.784308", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.400C>T", "protein_change": "p.Arg134Cys", "transcript_id": "NM_001256875.2", "dbsnp_id": "rs201050786", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1080" }, { "type": "Combination", "id": "OLI1086" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2357/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2357/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2357/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2357/gene/?format=api" }, "data": { "type": "Gene", "id": "CDCA8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2357/?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 } }