Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1562/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3283", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.742416, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 99012046, "genomic_position_hg38": 96249764, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.186261", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.476C>A", "protein_change": "p.Thr159Asn", "transcript_id": "NM_000197", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1562" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3283/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3283/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3283/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3283/gene/?format=api" }, "data": { "type": "Gene", "id": "HSD17B3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3283/?format=api" } }, { "type": "SmallVariant", "id": "3284", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.190022, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 48274552, "genomic_position_hg38": 50197191, "chromosome": "17", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.192346", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.739C>T", "protein_change": "p.Pro247Ser", "transcript_id": "NM_000088", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1562" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3284/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3284/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3284/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3284/gene/?format=api" }, "data": { "type": "Gene", "id": "COL1A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3284/?format=api" } }, { "type": "SmallVariant", "id": "3285", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0024, "KGP_genomes_AFR_maf": 0.0076, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001968, "gnomad_AFR_maf": 0.005284, "gnomad_AMR_maf": 0.003678, "gnomad_ASJ_maf": 0.009039, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001347, "gnomad_NFE_maf": 0.001219, "gnomad_OTH_maf": 0.00363, "gnomad_SAS_maf": 6.536e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.26259, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 52508989, "genomic_position_hg38": 51934853, "chromosome": "13", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.198443", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.4301C>T", "protein_change": "p.Thr1434Met", "transcript_id": "NM_000053", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1562" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3285/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3285/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3285/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3285/gene/?format=api" }, "data": { "type": "Gene", "id": "ATP7B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3285/?format=api" } }, { "type": "SmallVariant", "id": "3286", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0045, "KGP_genomes_AFR_maf": 0.002, "KGP_genomes_AMR_maf": 0.0095, "KGP_genomes_EAS_maf": 0.0026, "KGP_genomes_EUR_maf": 0.0052, "KGP_genomes_SAS_maf": 0.0056, "gnomad_maf": 0.006249, "gnomad_AFR_maf": 0.001292, "gnomad_AMR_maf": 0.0205, "gnomad_ASJ_maf": 0.006814, "gnomad_EAS_maf": 0.001516, "gnomad_FIN_maf": 0.0001249, "gnomad_NFE_maf": 0.004116, "gnomad_OTH_maf": 0.008168, "gnomad_SAS_maf": 0.00624, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.042729, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 132826404, "genomic_position_hg38": 133692376, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.204673", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1354G>A", "protein_change": "p.Val452Met", "transcript_id": "NM_001164617", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1562" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3286/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3286/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3286/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3286/gene/?format=api" }, "data": { "type": "Gene", "id": "GPC3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3286/?format=api" } }, { "type": "SmallVariant", "id": "3287", "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": 1.196e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.897e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0003273, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.213172, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 32348821, "genomic_position_hg38": 31774684, "chromosome": "13", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.210688", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.562C>A", "protein_change": "p.Gln188Lys", "transcript_id": "NM_130806", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1562" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3287/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3287/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3287/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3287/gene/?format=api" }, "data": { "type": "Gene", "id": "RXFP2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3287/?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 } }