Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1608/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3389", "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": 0.0002546, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0004048, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.239e-05, "gnomad_NFE_maf": 0.0004133, "gnomad_OTH_maf": 0.000163, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.917342, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 133895162, "genomic_position_hg38": 132882917, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.832554", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.993G>C", "protein_change": "p.Gln331His", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1608" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3389/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3389/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3389/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3389/gene/?format=api" }, "data": { "type": "Gene", "id": "TG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3389/?format=api" } }, { "type": "SmallVariant", "id": "3390", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0006765, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.004158, "gnomad_NFE_maf": 0.0006512, "gnomad_OTH_maf": 0.0008159, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.728468, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 133984047, "genomic_position_hg38": 132971802, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.838468", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.5984A>G", "protein_change": "p.Glu1995Gly", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1608" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3390/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3390/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3390/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3390/gene/?format=api" }, "data": { "type": "Gene", "id": "TG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3390/?format=api" } }, { "type": "SmallVariant", "id": "3391", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0026, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.006, "KGP_genomes_SAS_maf": 0.0051, "gnomad_maf": 0.006906, "gnomad_AFR_maf": 0.001137, "gnomad_AMR_maf": 0.001986, "gnomad_ASJ_maf": 0.004119, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01034, "gnomad_NFE_maf": 0.01042, "gnomad_OTH_maf": 0.004328, "gnomad_SAS_maf": 0.007201, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.510313, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 33697576, "genomic_position_hg38": 32325266, "chromosome": "21", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.844404", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.5084C>G", "protein_change": "p.Ser1695Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1608" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3391/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3391/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3391/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3391/gene/?format=api" }, "data": { "type": "Gene", "id": "URB1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3391/?format=api" } }, { "type": "SmallVariant", "id": "3392", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0016, "KGP_genomes_AFR_maf": 0.0038, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001655, "gnomad_AFR_maf": 0.002035, "gnomad_AMR_maf": 0.0004348, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.00295, "gnomad_FIN_maf": 0.002368, "gnomad_NFE_maf": 0.00212, "gnomad_OTH_maf": 0.002157, "gnomad_SAS_maf": 0.0003268, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.648814, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 49432365, "genomic_position_hg38": 49038582, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.850157", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.8774C>T", "protein_change": "p.Ala2925Val", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1608" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3392/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3392/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3392/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3392/gene/?format=api" }, "data": { "type": "Gene", "id": "KMT2D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3392/?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 } }