Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1568/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3304", "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": 5.787e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001497, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.992e-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": 3.240751, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 30326502, "genomic_position_hg38": 30308385, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.314094", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.979G>A", "protein_change": "p.Glu327Lys", "transcript_id": "NM_000475", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1568" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3304/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3304/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3304/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3304/gene/?format=api" }, "data": { "type": "Gene", "id": "NR0B1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3304/?format=api" } }, { "type": "SmallVariant", "id": "3305", "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": 9.655e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 3.735e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001582, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001499, "gnomad_OTH_maf": 0.0002111, "gnomad_SAS_maf": 7.631e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.972382, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 139937015, "genomic_position_hg38": 140557430, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.320085", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.59C>T", "protein_change": "p.Pro20Leu", "transcript_id": "NM_001035235.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1568" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3305/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3305/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3305/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3305/gene/?format=api" }, "data": { "type": "Gene", "id": "SRA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3305/?format=api" } }, { "type": "SmallVariant", "id": "3306", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.000645, "gnomad_AFR_maf": 0.0003386, "gnomad_AMR_maf": 0.000966, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.798e-05, "gnomad_NFE_maf": 0.001045, "gnomad_OTH_maf": 0.0003391, "gnomad_SAS_maf": 9.861e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.375991, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 1035189, "genomic_position_hg38": 985189, "chromosome": "16", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.326164", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1144G>A", "protein_change": "p.Asp382Asn", "transcript_id": "NM_014587", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1568" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3306/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3306/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3306/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3306/gene/?format=api" }, "data": { "type": "Gene", "id": "SOX8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3306/?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 } }