Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/PDZD7/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "247", "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": 7.995e-05, "gnomad_AFR_maf": 0.0001871, "gnomad_AMR_maf": 2.894e-05, "gnomad_ASJ_maf": 9.966e-05, "gnomad_EAS_maf": 5.446e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001151, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.267e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.202186, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 102789810, "genomic_position_hg38": 101030053, "chromosome": "10", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:41.983311", "ref_allele": "C", "alt_allele": "CG", "cdna_change": "c.166dup", "protein_change": "p.Arg56ProfsTer24", "transcript_id": "NM_001195263.2", "dbsnp_id": "rs587776894", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI120" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/247/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/247/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/247/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/247/gene/?format=api" }, "data": { "type": "Gene", "id": "PDZD7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/247/?format=api" } }, { "type": "SmallVariant", "id": "250", "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": 6.76e-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": 1.823e-05, "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": 4.816371, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 102772017, "genomic_position_hg38": 101012260, "chromosome": "10", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:42.001162", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1750-2A>G", "protein_change": null, "transcript_id": "NM_001195263.1", "dbsnp_id": "rs747536638", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI121" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/250/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/250/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/250/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/250/gene/?format=api" }, "data": { "type": "Gene", "id": "PDZD7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/250/?format=api" } }, { "type": "SmallVariant", "id": "252", "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": 1.812072, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 102770442, "genomic_position_hg38": 101010685, "chromosome": "10", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:42.012899", "ref_allele": "GGGGGTGTGCA", "alt_allele": "G", "cdna_change": "c.2194_2203del", "protein_change": "p.Cys732LeufsTer18", "transcript_id": "NM_001195263.2", "dbsnp_id": "NA", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI122" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/252/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/252/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/252/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/252/gene/?format=api" }, "data": { "type": "Gene", "id": "PDZD7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/252/?format=api" } }, { "type": "SmallVariant", "id": "494", "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": 4.116419, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 102789899, "genomic_position_hg38": 101030142, "chromosome": "10", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:43.437882", "ref_allele": "GGA", "alt_allele": "G", "cdna_change": "c.76_77del", "protein_change": "p.Ser26LeufsTer53", "transcript_id": "NM_001195263.3", "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI254" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/494/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/494/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/494/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/494/gene/?format=api" }, "data": { "type": "Gene", "id": "PDZD7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/494/?format=api" } }, { "type": "SmallVariant", "id": "1150", "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": 1.341e-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": 3.634e-05, "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": 2.001298, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 102776164, "genomic_position_hg38": 101016407, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.435034", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1543C>T", "protein_change": "p.Gln515Ter", "transcript_id": "NM_001195263.1", "dbsnp_id": "rs979094623", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI552" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1150/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1150/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1150/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1150/gene/?format=api" }, "data": { "type": "Gene", "id": "PDZD7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1150/?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": 5 } }