Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1524/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3198", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "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": 0.0001352, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0005494, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 9.671e-05, "gnomad_OTH_maf": 0.0006515, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 0.847, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 5780863, "genomic_position_hg38": 5741232, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.669251", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.785G>A", "protein_change": "p.Arg262His", "transcript_id": "NM_207111", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1524" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3198/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3198/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3198/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3198/gene/?format=api" }, "data": { "type": "Gene", "id": "RNF216" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3198/?format=api" } }, { "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": "3200", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0003, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0013, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001117, "gnomad_AFR_maf": 7.599e-05, "gnomad_AMR_maf": 0.0003282, "gnomad_ASJ_maf": 0.0005343, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.003248, "gnomad_NFE_maf": 0.001673, "gnomad_OTH_maf": 0.0004413, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 1.923126, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 149638450, "genomic_position_hg38": 150470178, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.681656", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.530C>T", "protein_change": "p.Thr177Met", "transcript_id": "NM_001177465", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1524" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3200/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3200/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3200/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3200/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3200/?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 } }