Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI100/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "207", "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": 1.205e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.565e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.773e-05, "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": 4.075012, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 76873900, "genomic_position_hg38": 77162854, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.738297", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Gly519Asp", "transcript_id": null, "dbsnp_id": "rs111033206", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI100" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/207/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/207/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/207/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/207/gene/?format=api" }, "data": { "type": "Gene", "id": "MYO7A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/207/?format=api" } }, { "type": "SmallVariant", "id": "208", "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": 0.0004785, "gnomad_AFR_maf": 0.0001294, "gnomad_AMR_maf": 0.00113, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0006575, "gnomad_OTH_maf": 0.0006627, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001178 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.067586, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73468926, "genomic_position_hg38": 71709169, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.744219", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg1060Trp", "transcript_id": null, "dbsnp_id": "rs201536811", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI100" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/208/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/208/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/208/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/208/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/208/?format=api" } }, { "type": "SmallVariant", "id": "1975", "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": 0.0 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 9.598337, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 76922215, "genomic_position_hg38": 77211170, "chromosome": "11", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:52.470988", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.6070C>T", "protein_change": "p.Arg2024Ter", "transcript_id": "ENST00000409709.9", "dbsnp_id": "rs111033198", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI100" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1975/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1975/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1975/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1975/gene/?format=api" }, "data": { "type": "Gene", "id": "MYO7A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1975/?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 } }