Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI336/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "698", "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": 1.797636, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 72861634, "genomic_position_hg38": 73447304, "chromosome": "7", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.648907", "ref_allele": "C", "alt_allele": "CTCTTCTTCCTCCTCCTCC", "cdna_change": "c.3804_3821dupGGAGGAGGAGGAAGAAGA", "protein_change": "p.Glu1268_Glu1273dup", "transcript_id": "NM_032408.4", "dbsnp_id": "rs782297157", "variant_effect": "insertion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI336" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/698/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/698/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/698/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/698/gene/?format=api" }, "data": { "type": "Gene", "id": "BAZ1B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/698/?format=api" } }, { "type": "SmallVariant", "id": "699", "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": 4.01e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.563e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "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": 5.04973, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 66849345, "genomic_position_hg38": 66455565, "chromosome": "12", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.655335", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1043-1G>A", "protein_change": null, "transcript_id": "NM_001178074.1", "dbsnp_id": "rs772813442", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI336" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/699/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/699/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/699/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/699/gene/?format=api" }, "data": { "type": "Gene", "id": "GRIP1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/699/?format=api" } }, { "type": "SmallVariant", "id": "700", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 9.146e-05, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 5.782e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0007068, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 6.153e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.291911, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 104375107, "genomic_position_hg38": 102615350, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.661611", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1105G>A", "protein_change": "p.Val369Ile", "transcript_id": "NM_016169.3", "dbsnp_id": "rs149449923", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI336" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/700/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/700/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/700/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/700/gene/?format=api" }, "data": { "type": "Gene", "id": "SUFU" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/700/?format=api" } }, { "type": "SmallVariant", "id": "701", "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": 1.198e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.785e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.269e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.788429, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 30100386, "genomic_position_hg38": 30089065, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.668026", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.499C>T", "protein_change": "p.Arg167Cys", "transcript_id": "NM_004608.3", "dbsnp_id": "rs760006939", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI336" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/701/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/701/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/701/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/701/gene/?format=api" }, "data": { "type": "Gene", "id": "TBX6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/701/?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 } }