Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI324/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "342", "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": 0.0005979, "gnomad_AFR_maf": 0.0006774, "gnomad_AMR_maf": 0.0004341, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0003047, "gnomad_NFE_maf": 0.0009597, "gnomad_OTH_maf": 0.0006538, "gnomad_SAS_maf": 0.0001308, "ESP_AA_maf": 0.0009079, "ESP_EA_maf": 0.0005814 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.476005, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 76741000, "genomic_position_hg38": 76347220, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.532614", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.765G>A", "protein_change": "p.Met255Ile", "transcript_id": "NM_024685.3", "dbsnp_id": "rs139658279", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI172" }, { "type": "Combination", "id": "OLI324" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/342/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/342/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/342/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/342/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/342/?format=api" } }, { "type": "SmallVariant", "id": "629", "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": 3.99e-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": 8.83e-06, "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": "Possibly Damaging", "cadd_prediction": 5.502107, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 66278176, "genomic_position_hg38": 66510705, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.193327", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.46A>T", "protein_change": "p.Ser16Cys", "transcript_id": "NM_024649.4", "dbsnp_id": "rs772917364", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI324" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/629/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/629/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/629/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/629/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/629/?format=api" } }, { "type": "SmallVariant", "id": "630", "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": 4.633072, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 66294223, "genomic_position_hg38": 66526752, "chromosome": "11", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.200193", "ref_allele": "C", "alt_allele": "CC", "cdna_change": "c.1285dup", "protein_change": "p.Arg429ProfsTer72", "transcript_id": "NM_024649.4", "dbsnp_id": "rs1565287921", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI324" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/630/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/630/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/630/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/630/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/630/?format=api" } }, { "type": "SmallVariant", "id": "631", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0154, "KGP_genomes_AFR_maf": 0.0121, "KGP_genomes_AMR_maf": 0.0144, "KGP_genomes_EAS_maf": 0.0238, "KGP_genomes_EUR_maf": 0.0258, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.01358, "gnomad_AFR_maf": 0.006075, "gnomad_AMR_maf": 0.01043, "gnomad_ASJ_maf": 0.001408, "gnomad_EAS_maf": 0.01075, "gnomad_FIN_maf": 0.02482, "gnomad_NFE_maf": 0.01758, "gnomad_OTH_maf": 0.01321, "gnomad_SAS_maf": 0.002806, "ESP_AA_maf": 0.00751, "ESP_EA_maf": 0.01711 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.325438, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 88523494, "genomic_position_hg38": 88129717, "chromosome": "12", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.206796", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.829G>C", "protein_change": "p.Glu277Gln", "transcript_id": "NM_025114.4", "dbsnp_id": "rs45502896", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI324" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/631/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/631/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/631/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/631/gene/?format=api" }, "data": { "type": "Gene", "id": "CEP290" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/631/?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 } }