Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI620/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "258", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0032, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0058, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0109, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.006868, "gnomad_AFR_maf": 0.001169, "gnomad_AMR_maf": 0.007227, "gnomad_ASJ_maf": 0.01082, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.003249, "gnomad_NFE_maf": 0.01032, "gnomad_OTH_maf": 0.008969, "gnomad_SAS_maf": 0.001633, "ESP_AA_maf": 0.0009099, "ESP_EA_maf": 0.01024 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.588566, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73002101, "genomic_position_hg38": 72709760, "chromosome": "15", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:42.047857", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.137A>G", "protein_change": "p.Lys46Arg", "transcript_id": "NM_001320665.1", "dbsnp_id": "rs75295839", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI1116" }, { "type": "Combination", "id": "OLI1146" }, { "type": "Combination", "id": "OLI125" }, { "type": "Combination", "id": "OLI620" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/258/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/258/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/258/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/258/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/258/?format=api" } }, { "type": "SmallVariant", "id": "1361", "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": 3.981e-06, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "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": "Possibly Damaging", "cadd_prediction": 3.25974, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 122770055, "genomic_position_hg38": 121848900, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.658160", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.878A>C", "protein_change": "p.Gln293Pro", "transcript_id": "NM_176824.2", "dbsnp_id": "rs889417696", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI620" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1361/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1361/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1361/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1361/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1361/?format=api" } }, { "type": "SmallVariant", "id": "1362", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0024, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.008, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.00549, "gnomad_AFR_maf": 0.001823, "gnomad_AMR_maf": 0.004898, "gnomad_ASJ_maf": 0.0007967, "gnomad_EAS_maf": 5.611e-05, "gnomad_FIN_maf": 0.008172, "gnomad_NFE_maf": 0.007883, "gnomad_OTH_maf": 0.006552, "gnomad_SAS_maf": 0.001728, "ESP_AA_maf": 0.001604, "ESP_EA_maf": 0.01107 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.001116, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 27062666, "genomic_position_hg38": 27062668, "chromosome": "9", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:48.663845", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1735G>A", "protein_change": "p.Val579Met", "transcript_id": "NM_025103.2", "dbsnp_id": "rs138591335", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI620" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1362/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1362/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1362/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1362/gene/?format=api" }, "data": { "type": "Gene", "id": "IFT74" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1362/?format=api" } }, { "type": "CopyNumberVariant", "id": "1363", "attributes": { "status": "CU", "genomic_position_hg19": 122749644, "genomic_position_hg38": 121828489, "chromosome": "4", "annotation_flag": "cnv", "lastmodified": "2021-10-18T11:01:08.259685", "location": "exon16_17", "sequence": "exon16_17", "number_of_repeats": null, "type_cnv": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI620" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1363/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1363/combinations/?format=api" } }, "gene_name": { "data": { "type": "Gene", "id": "BBS7" }, "links": { "related": "https://olida.ibsquare.be/api/genes/BBS7/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1363/?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 } }