Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1117/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2410", "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": "Possibly Damaging", "cadd_prediction": 3.805826, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 66291232, "genomic_position_hg38": 66523761, "chromosome": "11", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.102026", "ref_allele": "T", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Ile330Thr", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1117" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2410/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2410/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2410/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2410/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2410/?format=api" } }, { "type": "SmallVariant", "id": "2411", "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": 1.25e-05, "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": 2.697e-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": 7.090361, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 66297397, "genomic_position_hg38": 66529926, "chromosome": "11", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.108313", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1447C>T", "protein_change": "p.Arg483Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1117" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2411/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2411/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2411/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2411/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2411/?format=api" } }, { "type": "SmallVariant", "id": "2412", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0044, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.006, "KGP_genomes_SAS_maf": 0.0133, "gnomad_maf": 0.004023, "gnomad_AFR_maf": 0.0005567, "gnomad_AMR_maf": 0.001244, "gnomad_ASJ_maf": 0.01532, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001066, "gnomad_NFE_maf": 0.004934, "gnomad_OTH_maf": 0.003757, "gnomad_SAS_maf": 0.006468, "ESP_AA_maf": 0.0004545, "ESP_EA_maf": 0.005821 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.864619, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 66278154, "genomic_position_hg38": 66510683, "chromosome": "11", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.114463", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.24T>C", "protein_change": "p.Asp8=", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1117" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2412/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2412/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2412/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2412/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2412/?format=api" } }, { "type": "SmallVariant", "id": "2413", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0022, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0102, "gnomad_maf": 0.001659, "gnomad_AFR_maf": 0.000123, "gnomad_AMR_maf": 0.001041, "gnomad_ASJ_maf": 0.0001984, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.239e-05, "gnomad_NFE_maf": 0.001231, "gnomad_OTH_maf": 0.002608, "gnomad_SAS_maf": 0.007153, "ESP_AA_maf": 0.0002275, "ESP_EA_maf": 0.001396 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.204727, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73028295, "genomic_position_hg38": 72735954, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.120655", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.1236A>T", "protein_change": "p.Glu412Asp", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1117" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2413/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2413/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2413/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2413/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2413/?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 } }