Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI367/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "384", "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": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 4.873538, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 38282214, "genomic_position_hg38": 38424696, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.774151", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.749G>A", "protein_change": "p.Arg250Gln", "transcript_id": "NM_023110.2", "dbsnp_id": "rs121909645", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI197" }, { "type": "Combination", "id": "OLI367" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/384/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/384/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/384/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/384/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/384/?format=api" } }, { "type": "SmallVariant", "id": "804", "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": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.822483, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 21904110, "genomic_position_hg38": 22046599, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.309752", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.323T>C", "protein_change": "p.Ile108Thr", "transcript_id": "NM_003867.3", "dbsnp_id": "rs398123024", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI367" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/804/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/804/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/804/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/804/gene/?format=api" }, "data": { "type": "Gene", "id": "FGF17" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/804/?format=api" } }, { "type": "SmallVariant", "id": "805", "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": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.134835, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 14307863, "genomic_position_hg38": 14327217, "chromosome": "20", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.316141", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.290A>G", "protein_change": "p.Glu97Gly", "transcript_id": "NM_013281.3", "dbsnp_id": "rs398124651", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI367" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/805/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/805/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/805/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/805/gene/?format=api" }, "data": { "type": "Gene", "id": "FLRT3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/805/?format=api" } }, { "type": "SmallVariant", "id": "806", "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": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.009635, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 14307722, "genomic_position_hg38": 14327076, "chromosome": "20", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.322539", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.431G>T", "protein_change": "p.Ser144Ile", "transcript_id": "NM_013281.3", "dbsnp_id": "rs398124652", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI367" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/806/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/806/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/806/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/806/gene/?format=api" }, "data": { "type": "Gene", "id": "FLRT3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/806/?format=api" } }, { "type": "SmallVariant", "id": "807", "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": 9.343e-05, "gnomad_AFR_maf": 0.0001323, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001119, "gnomad_FIN_maf": 4.704e-05, "gnomad_NFE_maf": 4.493e-05, "gnomad_OTH_maf": 0.0003346, "gnomad_SAS_maf": 0.0003617, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.250351, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 129026056, "genomic_position_hg38": 128268482, "chromosome": "2", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:45.328988", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.916C>T", "protein_change": "p.Arg306Trp", "transcript_id": "NM_004807.3", "dbsnp_id": "rs780352591", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI367" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/807/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/807/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/807/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/807/gene/?format=api" }, "data": { "type": "Gene", "id": "HS6ST1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/807/?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": 5 } }