Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI928/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2002", "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": 1.193e-05, "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": 1.759e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.267e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 7.182836, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 27680604, "genomic_position_hg38": 27457737, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.631309", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.3130C>T", "protein_change": "p.Arg1044Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI928" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2002/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2002/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2002/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2002/gene/?format=api" }, "data": { "type": "Gene", "id": "IFT172" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2002/?format=api" } }, { "type": "SmallVariant", "id": "2003", "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": 3.98e-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": 8.797e-06, "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": 2.384386, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 148524296, "genomic_position_hg38": 148827204, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.637731", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.688A>G", "protein_change": "p.Met230Val", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI928" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2003/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2003/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2003/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2003/gene/?format=api" }, "data": { "type": "Gene", "id": "EZH2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2003/?format=api" } }, { "type": "SmallVariant", "id": "2004", "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": 0.0001116, "gnomad_AFR_maf": 6.234e-05, "gnomad_AMR_maf": 0.0001445, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001088, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.933e-05, "gnomad_OTH_maf": 0.0001632, "gnomad_SAS_maf": 0.0003266, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.071238, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 88299675, "genomic_position_hg38": 87589957, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.644100", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1A>G", "protein_change": "p.Met1Val", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI928" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2004/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2004/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2004/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2004/gene/?format=api" }, "data": { "type": "Gene", "id": "RARS2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2004/?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 } }