Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1751/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3714", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0517, "KGP_genomes_AFR_maf": 0.0121, "KGP_genomes_AMR_maf": 0.0937, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.159, "KGP_genomes_SAS_maf": 0.0184, "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.076201, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 50756774, "genomic_position_hg38": 50722863, "chromosome": "16", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:34.438244", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2798+158C>T", "protein_change": null, "transcript_id": "NM_022162.1", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 25 }, "data": [ { "type": "Combination", "id": "OLI1750" }, { "type": "Combination", "id": "OLI1751" }, { "type": "Combination", "id": "OLI1754" }, { "type": "Combination", "id": "OLI1755" }, { "type": "Combination", "id": "OLI1756" }, { "type": "Combination", "id": "OLI1757" }, { "type": "Combination", "id": "OLI1762" }, { "type": "Combination", "id": "OLI1763" }, { "type": "Combination", "id": "OLI1764" }, { "type": "Combination", "id": "OLI1765" }, { "type": "Combination", "id": "OLI1767" }, { "type": "Combination", "id": "OLI1768" }, { "type": "Combination", "id": "OLI1769" }, { "type": "Combination", "id": "OLI1770" }, { "type": "Combination", "id": "OLI1773" }, { "type": "Combination", "id": "OLI1774" }, { "type": "Combination", "id": "OLI1776" }, { "type": "Combination", "id": "OLI1778" }, { "type": "Combination", "id": "OLI1780" }, { "type": "Combination", "id": "OLI1781" }, { "type": "Combination", "id": "OLI1782" }, { "type": "Combination", "id": "OLI1785" }, { "type": "Combination", "id": "OLI1786" }, { "type": "Combination", "id": "OLI1787" }, { "type": "Combination", "id": "OLI1789" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3714/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3714/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3714/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3714/gene/?format=api" }, "data": { "type": "Gene", "id": "NOD2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3714/?format=api" } }, { "type": "SmallVariant", "id": "3716", "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 5.602728, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 50763781, "genomic_position_hg38": 50729870, "chromosome": "16", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:34.509947", "ref_allele": "C", "alt_allele": "CC", "cdna_change": "c.3019dup", "protein_change": "p.Leu1007fs", "transcript_id": "NM_022162.1", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 7 }, "data": [ { "type": "Combination", "id": "OLI1751" }, { "type": "Combination", "id": "OLI1755" }, { "type": "Combination", "id": "OLI1759" }, { "type": "Combination", "id": "OLI1760" }, { "type": "Combination", "id": "OLI1767" }, { "type": "Combination", "id": "OLI1773" }, { "type": "Combination", "id": "OLI1789" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3716/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3716/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3716/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3716/gene/?format=api" }, "data": { "type": "Gene", "id": "NOD2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3716/?format=api" } }, { "type": "SmallVariant", "id": "3717", "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": 1.991e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.000272, "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.214698, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 3293879, "genomic_position_hg38": 3243879, "chromosome": "16", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:34.525821", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.1773T>G", "protein_change": "p.Ile591Met", "transcript_id": "NM_000243.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1751" }, { "type": "Combination", "id": "OLI1781" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3717/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3717/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3717/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3717/gene/?format=api" }, "data": { "type": "Gene", "id": "MEFV" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3717/?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 } }