Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1464/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3075", "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": 9.158e-05, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 0.0001157, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001498, "gnomad_OTH_maf": 0.0001633, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.877585, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 103138572, "genomic_position_hg38": 103498125, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.950809", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.8795C>A", "protein_change": "p.Ser2932Tyr", "transcript_id": "NM_005045", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1464" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3075/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3075/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3075/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3075/gene/?format=api" }, "data": { "type": "Gene", "id": "RELN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3075/?format=api" } }, { "type": "SmallVariant", "id": "3076", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001625, "gnomad_AFR_maf": 0.0004307, "gnomad_AMR_maf": 0.0009264, "gnomad_ASJ_maf": 0.003874, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001386, "gnomad_NFE_maf": 0.002292, "gnomad_OTH_maf": 0.001959, "gnomad_SAS_maf": 0.001797, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.17766, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 103236965, "genomic_position_hg38": 103596518, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.956869", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.3477C>A", "protein_change": "p.Asn1159Lys", "transcript_id": "NM_005045", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1464" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3076/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3076/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3076/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3076/gene/?format=api" }, "data": { "type": "Gene", "id": "RELN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3076/?format=api" } }, { "type": "SmallVariant", "id": "3077", "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": 1.61e-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": 3.562e-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": "Benign", "cadd_prediction": 1.905579, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38966010, "genomic_position_hg38": 38475370, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.963141", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.4213C>A", "protein_change": "p.Pro1405Thr", "transcript_id": "NM_000540", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1464" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3077/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3077/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3077/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3077/gene/?format=api" }, "data": { "type": "Gene", "id": "RYR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3077/?format=api" } }, { "type": "CopyNumberVariant", "id": "3078", "attributes": { "status": "CU", "genomic_position_hg19": 31652219, "genomic_position_hg38": 31630672, "chromosome": "11", "annotation_flag": "cnv", "lastmodified": "2023-05-16T12:02:58.725415", "location": "31,652,219-31,764,393", "sequence": null, "number_of_repeats": null, "type_cnv": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1464" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3078/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3078/combinations/?format=api" } }, "gene_name": { "data": { "type": "Gene", "id": "ELP4" }, "links": { "related": "https://olida.ibsquare.be/api/genes/ELP4/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3078/?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": 4 } }