Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1746/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3199", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0023, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0005995, "gnomad_AFR_maf": 0.006309, "gnomad_AMR_maf": 0.0009562, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001178, "gnomad_OTH_maf": 0.0003292, "gnomad_SAS_maf": 6.537e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.258477, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 121747018, "genomic_position_hg38": 120989442, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.675475", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.3528G>T", "protein_change": "p.Gln1176His", "transcript_id": "NM_005270", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1524" }, { "type": "Combination", "id": "OLI1558" }, { "type": "Combination", "id": "OLI1746" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3199/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3199/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3199/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3199/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3199/?format=api" } }, { "type": "SmallVariant", "id": "3703", "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": 2.190324, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 61655614, "genomic_position_hg38": 60743055, "chromosome": "8", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:34.102664", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1623C>A", "protein_change": "p.His541Gln", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1746" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3703/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3703/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3703/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3703/gene/?format=api" }, "data": { "type": "Gene", "id": "CHD7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3703/?format=api" } }, { "type": "SmallVariant", "id": "3704", "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": 0.0001453, "gnomad_AFR_maf": 0.002019, "gnomad_AMR_maf": 2.901e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.931e-06, "gnomad_OTH_maf": 0.0003326, "gnomad_SAS_maf": 3.272e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.006922, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 76892613, "genomic_position_hg38": 77181567, "chromosome": "11", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:34.115813", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2882G>A", "protein_change": "p.Gly961Asp", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1746" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3704/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3704/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3704/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3704/gene/?format=api" }, "data": { "type": "Gene", "id": "MYO7A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3704/?format=api" } }, { "type": "SmallVariant", "id": "3705", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0023, "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": 0.0002071, "gnomad_AFR_maf": 0.002708, "gnomad_AMR_maf": 0.0001445, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.799e-06, "gnomad_OTH_maf": 0.0001631, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.507919, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 48258931, "genomic_position_hg38": 47865148, "chromosome": "12", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:34.129236", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.176C>T", "protein_change": "p.Thr59Ile", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1746" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3705/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3705/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3705/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3705/gene/?format=api" }, "data": { "type": "Gene", "id": "VDR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3705/?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 } }