Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI264/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "513", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "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": 0.001, "gnomad_maf": 0.0007837, "gnomad_AFR_maf": 0.0002461, "gnomad_AMR_maf": 0.001012, "gnomad_ASJ_maf": 0.001886, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0009676, "gnomad_OTH_maf": 0.00261, "gnomad_SAS_maf": 0.0004246, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0009302 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.47769, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 70936845, "genomic_position_hg38": 71641018, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.550553", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1015G>A", "protein_change": "p.Val339Met", "transcript_id": "NM_022132.4", "dbsnp_id": "rs150591260", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI264" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/513/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/513/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/513/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/513/gene/?format=api" }, "data": { "type": "Gene", "id": "MCCC2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/513/?format=api" } }, { "type": "SmallVariant", "id": "514", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 4.026e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.921e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "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": 5.869853, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 86377699, "genomic_position_hg38": 85465470, "chromosome": "8", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:43.556311", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.232+1G>A", "protein_change": null, "transcript_id": "NM_000067.3", "dbsnp_id": "rs573750741", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI264" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/514/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/514/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/514/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/514/gene/?format=api" }, "data": { "type": "Gene", "id": "CA2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/514/?format=api" } }, { "type": "SmallVariant", "id": "515", "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": 3.978e-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": 8.798e-06, "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": 7.936959, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 44865850, "genomic_position_hg38": 44573652, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.562020", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.6100C>T", "protein_change": "p.Arg2034Ter", "transcript_id": "NM_025137.3", "dbsnp_id": "rs118203963", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI264" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/515/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/515/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/515/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/515/gene/?format=api" }, "data": { "type": "Gene", "id": "SPG11" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/515/?format=api" } }, { "type": "SmallVariant", "id": "516", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.125023, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 113570809, "genomic_position_hg38": 112649653, "chromosome": "4", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:43.567655", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1261G>A", "protein_change": "p.Val421Ile", "transcript_id": "NM_015454.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI264" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/516/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/516/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/516/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/516/gene/?format=api" }, "data": { "type": "Gene", "id": "LARP7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/516/?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": 4 } }