Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI121/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "248", "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.196139, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 216348702, "genomic_position_hg38": 216175360, "chromosome": "1", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:41.989402", "ref_allele": "ACTCT", "alt_allele": "A", "cdna_change": "c.4515_4518del", "protein_change": "p.Arg1505SerfsTer7", "transcript_id": "NM_206933.7", "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI121" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/248/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/248/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/248/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/248/gene/?format=api" }, "data": { "type": "Gene", "id": "USH2A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/248/?format=api" } }, { "type": "SmallVariant", "id": "249", "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": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.651e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.611394, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 215847937, "genomic_position_hg38": 215674595, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.995297", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Thr4439Ile", "transcript_id": null, "dbsnp_id": "rs753330544", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI121" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/249/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/249/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/249/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/249/gene/?format=api" }, "data": { "type": "Gene", "id": "USH2A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/249/?format=api" } }, { "type": "SmallVariant", "id": "250", "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": 6.76e-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": 1.823e-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": 4.816371, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 102772017, "genomic_position_hg38": 101012260, "chromosome": "10", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:42.001162", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1750-2A>G", "protein_change": null, "transcript_id": "NM_001195263.1", "dbsnp_id": "rs747536638", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI121" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/250/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/250/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/250/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/250/gene/?format=api" }, "data": { "type": "Gene", "id": "PDZD7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/250/?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 } }