Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1569/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3307", "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 8.42223, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 25781218, "genomic_position_hg38": 25739727, "chromosome": "3", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.332204", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.731G>A", "protein_change": "p.Trp244Ter", "transcript_id": "NM_018297", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1569" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3307/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3307/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3307/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3307/gene/?format=api" }, "data": { "type": "Gene", "id": "NGLY1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3307/?format=api" } }, { "type": "SmallVariant", "id": "3308", "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": 3.595e-05, "gnomad_AFR_maf": 6.191e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.422e-05, "gnomad_OTH_maf": 0.0001638, "gnomad_SAS_maf": 6.536e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.243228, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 125451713, "genomic_position_hg38": 124967167, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.338251", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1460G>A", "protein_change": "p.Arg487His", "transcript_id": "NM_032656", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1569" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3308/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3308/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3308/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3308/gene/?format=api" }, "data": { "type": "Gene", "id": "DHX37" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3308/?format=api" } }, { "type": "SmallVariant", "id": "3309", "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": 0.001591, "gnomad_AFR_maf": 0.000152, "gnomad_AMR_maf": 0.002355, "gnomad_ASJ_maf": 0.0002132, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0005606, "gnomad_NFE_maf": 0.002521, "gnomad_OTH_maf": 0.001802, "gnomad_SAS_maf": 0.0001356, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.743517, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2251829, "genomic_position_hg38": 2251830, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.344450", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1556C>T", "protein_change": "p.Ala519Val", "transcript_id": "NM_000479", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1569" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3309/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3309/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3309/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3309/gene/?format=api" }, "data": { "type": "Gene", "id": "AMH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3309/?format=api" } }, { "type": "SmallVariant", "id": "3310", "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": 7.661e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0004185, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.457e-05, "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": 2.0716, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 61547022, "genomic_position_hg38": 61779550, "chromosome": "11", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.350380", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2227C>T", "protein_change": "p.Pro743Ser", "transcript_id": "NM_001127392", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1569" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3310/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3310/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3310/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3310/gene/?format=api" }, "data": { "type": "Gene", "id": "MYRF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3310/?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 } }