Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI599/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1280", "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": 5.468e-06, "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": 1.228e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 1.906282, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 149671693, "genomic_position_hg38": 150503423, "chromosome": "X", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:48.188457", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2190G>A", "protein_change": "p.Ser730=", "transcript_id": "NM_005491.4", "dbsnp_id": "rs782280266", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI599" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1280/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1280/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1280/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1280/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1280/?format=api" } }, { "type": "SmallVariant", "id": "1281", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001075, "gnomad_AFR_maf": 6.527e-05, "gnomad_AMR_maf": 2.926e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002205, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0005817 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.041912, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 121747688, "genomic_position_hg38": 120990112, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.194830", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.4198G>T", "protein_change": "p.Gly1400Cys", "transcript_id": "NM_005270.4", "dbsnp_id": "rs143914758", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI599" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1281/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1281/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1281/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1281/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1281/?format=api" } }, { "type": "SmallVariant", "id": "1282", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.003, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.004076, "gnomad_AFR_maf": 0.0008527, "gnomad_AMR_maf": 0.003191, "gnomad_ASJ_maf": 0.007037, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0002805, "gnomad_NFE_maf": 0.00688, "gnomad_OTH_maf": 0.005165, "gnomad_SAS_maf": 0.0003596, "ESP_AA_maf": 0.0002379, "ESP_EA_maf": 0.007692 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.130682, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 145737701, "genomic_position_hg38": 144512318, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.201161", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3062G>A", "protein_change": "p.Arg1021Gln", "transcript_id": "NM_004260.3", "dbsnp_id": "rs34666647", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI599" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1282/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1282/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1282/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1282/gene/?format=api" }, "data": { "type": "Gene", "id": "RECQL4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1282/?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": 3 } }