Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/COL17A1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "260", "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": 8.099437, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 105801284, "genomic_position_hg38": 104041526, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.059431", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.2669T>G", "protein_change": "p.Leu855Ter", "transcript_id": null, "dbsnp_id": "rs121912772", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI126" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/260/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/260/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/260/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/260/gene/?format=api" }, "data": { "type": "Gene", "id": "COL17A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/260/?format=api" } }, { "type": "SmallVariant", "id": "261", "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": 2.07e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001901, "gnomad_NFE_maf": 9.227e-06, "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": 8.045194, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 105794469, "genomic_position_hg38": 104034711, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.065251", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.3781C>T", "protein_change": "p.Arg1226Ter", "transcript_id": null, "dbsnp_id": "rs121912769", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI126" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/261/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/261/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/261/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/261/gene/?format=api" }, "data": { "type": "Gene", "id": "COL17A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/261/?format=api" } }, { "type": "SmallVariant", "id": "942", "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": 4.730174, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 105837179, "genomic_position_hg38": 104077421, "chromosome": "10", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.164056", "ref_allele": "CT", "alt_allele": "C", "cdna_change": "c.202delA", "protein_change": "p.Thr68LeufsTer106", "transcript_id": "NM_000494.4", "dbsnp_id": "NA", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI443" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/942/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/942/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/942/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/942/gene/?format=api" }, "data": { "type": "Gene", "id": "COL17A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/942/?format=api" } }, { "type": "SmallVariant", "id": "1223", "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": 5.908e-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": 0.0001213, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.555e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 3.255116, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 105796800, "genomic_position_hg38": 104037042, "chromosome": "10", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.873919", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.3277+3G>C", "protein_change": null, "transcript_id": "NM_000494.4", "dbsnp_id": "rs757250244", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI577" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1223/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1223/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1223/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1223/gene/?format=api" }, "data": { "type": "Gene", "id": "COL17A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1223/?format=api" } }, { "type": "SmallVariant", "id": "3452", "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": 3.271906, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 105793700, "genomic_position_hg38": 104033942, "chromosome": "10", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:26.034365", "ref_allele": "T", "alt_allele": "TA", "cdna_change": "c.4156+2dup", "protein_change": null, "transcript_id": "NM_000494.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1642" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3452/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3452/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3452/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3452/gene/?format=api" }, "data": { "type": "Gene", "id": "COL17A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3452/?format=api" } }, { "type": "SmallVariant", "id": "3676", "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": 5.007756, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 105819876, "genomic_position_hg38": 104060118, "chromosome": "10", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:33.313194", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1141+1G>A", "protein_change": null, "transcript_id": "NM_000494.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1733" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3676/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3676/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3676/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3676/gene/?format=api" }, "data": { "type": "Gene", "id": "COL17A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3676/?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": 6 } }