Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/DES/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "370", "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": 2.521235, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 220290704, "genomic_position_hg38": 219425982, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.686262", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1503G>A", "protein_change": "p.Val469Met", "transcript_id": null, "dbsnp_id": "rs267607487", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI190" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/370/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/370/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/370/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/370/gene/?format=api" }, "data": { "type": "Gene", "id": "DES" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/370/?format=api" } }, { "type": "SmallVariant", "id": "891", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0023, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001233, "gnomad_AFR_maf": 0.001907, "gnomad_AMR_maf": 0.0, "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": 0.001362, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.241011, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 220284989, "genomic_position_hg38": 219420267, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.845423", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.656C>T", "protein_change": "p.Thr219Ile", "transcript_id": "NM_001927.3", "dbsnp_id": "rs144901249", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI415" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/891/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/891/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/891/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/891/gene/?format=api" }, "data": { "type": "Gene", "id": "DES" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/891/?format=api" } }, { "type": "SmallVariant", "id": "1060", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0056, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0086, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0189, "KGP_genomes_SAS_maf": 0.0031, "gnomad_maf": 0.009206, "gnomad_AFR_maf": 0.003322, "gnomad_AMR_maf": 0.005753, "gnomad_ASJ_maf": 0.00129, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.007345, "gnomad_NFE_maf": 0.01521, "gnomad_OTH_maf": 0.008958, "gnomad_SAS_maf": 0.003397, "ESP_AA_maf": 0.004312, "ESP_EA_maf": 0.01372 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.409679, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 220284876, "genomic_position_hg38": 219420154, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.880878", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.638C>T", "protein_change": "p.Ala213Val", "transcript_id": "NM_001927.3", "dbsnp_id": "rs41272699", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI499" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1060/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1060/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1060/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1060/gene/?format=api" }, "data": { "type": "Gene", "id": "DES" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1060/?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 } }