Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI799/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1755", "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": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.87811, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 220356946, "genomic_position_hg38": 219492224, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.119046", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.9575C>A", "protein_change": "p.Thr3192Asn", "transcript_id": "NM_005876.4", "dbsnp_id": "rs534715710", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI799" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1755/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1755/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1755/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1755/gene/?format=api" }, "data": { "type": "Gene", "id": "SPEG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1755/?format=api" } }, { "type": "SmallVariant", "id": "1756", "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": 1.796759, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 35684736, "genomic_position_hg38": 35684739, "chromosome": "9", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:51.125501", "ref_allele": "G", "alt_allele": "GCCTGGGCCTCCA", "cdna_change": "c.620_631dup", "protein_change": "p.Gln210_Ala211insValGluAlaGln", "transcript_id": "NM_003289.4", "dbsnp_id": "rs1587956195", "variant_effect": "insertion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI799" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1756/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1756/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1756/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1756/gene/?format=api" }, "data": { "type": "Gene", "id": "TPM2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1756/?format=api" } }, { "type": "SmallVariant", "id": "1757", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0008, "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": 9.653e-05, "gnomad_AFR_maf": 0.0006266, "gnomad_AMR_maf": 2.898e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.38e-05, "gnomad_NFE_maf": 8.94e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.269e-05, "ESP_AA_maf": 0.0009166, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.737603, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 1052054, "genomic_position_hg38": 1052055, "chromosome": "19", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.131942", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3076C>T", "protein_change": "p.Arg1026Cys", "transcript_id": "NM_019112.3", "dbsnp_id": "rs141322593", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI799" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1757/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1757/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1757/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1757/gene/?format=api" }, "data": { "type": "Gene", "id": "ABCA7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1757/?format=api" } }, { "type": "SmallVariant", "id": "1758", "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": 1.234e-05, "gnomad_AFR_maf": 0.0001958, "gnomad_AMR_maf": 0.0, "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": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.671334, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 1055190, "genomic_position_hg38": 1055191, "chromosome": "19", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.138506", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.4045C>T", "protein_change": "p.Arg1349Trp", "transcript_id": "NM_019112.3", "dbsnp_id": "rs769101205", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI799" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1758/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1758/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1758/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1758/gene/?format=api" }, "data": { "type": "Gene", "id": "ABCA7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1758/?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 } }