Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/PCDH15/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "504", "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": 5.745621, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 56138703, "genomic_position_hg38": 54378943, "chromosome": "10", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:43.501957", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.158-1G>A", "protein_change": null, "transcript_id": "NM_033056.3", "dbsnp_id": "rs876657418", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI259" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/504/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/504/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/504/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/504/gene/?format=api" }, "data": { "type": "Gene", "id": "PCDH15" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/504/?format=api" } }, { "type": "SmallVariant", "id": "505", "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": 8.186837, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 55698611, "genomic_position_hg38": 53938851, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.508498", "ref_allele": "C", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Glu1113Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI260" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/505/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/505/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/505/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/505/gene/?format=api" }, "data": { "type": "Gene", "id": "PCDH15" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/505/?format=api" } }, { "type": "SmallVariant", "id": "517", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": 0.1097, "KGP_genomes_AMR_maf": 0.0144, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.007204, "gnomad_AFR_maf": 0.08786, "gnomad_AMR_maf": 0.006013, "gnomad_ASJ_maf": 0.001191, "gnomad_EAS_maf": 0.0001631, "gnomad_FIN_maf": 0.000693, "gnomad_NFE_maf": 0.0009148, "gnomad_OTH_maf": 0.004397, "gnomad_SAS_maf": 0.0004573, "ESP_AA_maf": 0.09456, "ESP_EA_maf": 0.004483 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.664726, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 55581882, "genomic_position_hg38": 53822122, "chromosome": "10", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:43.573520", "ref_allele": "CGTT", "alt_allele": "C", "cdna_change": "c.5601_5603delAAC", "protein_change": null, "transcript_id": "NM_001142763.2", "dbsnp_id": "rs113363047", "variant_effect": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI265" }, { "type": "Combination", "id": "OLI267" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/517/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/517/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/517/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/517/gene/?format=api" }, "data": { "type": "Gene", "id": "PCDH15" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/517/?format=api" } }, { "type": "SmallVariant", "id": "519", "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": 3.481587, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 56424006, "genomic_position_hg38": 54664246, "chromosome": "10", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:43.584975", "ref_allele": "TA", "alt_allele": "T", "cdna_change": "c.16delT", "protein_change": "p.Tyr6IlefsTer6", "transcript_id": "NM_001142763.3", "dbsnp_id": "rs397517451", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI266" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/519/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/519/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/519/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/519/gene/?format=api" }, "data": { "type": "Gene", "id": "PCDH15" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/519/?format=api" } }, { "type": "SmallVariant", "id": "968", "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": 7.957e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.438e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.267e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.553037, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 55719513, "genomic_position_hg38": 53959753, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.319595", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3101G>A", "protein_change": "p.Arg1034His", "transcript_id": "NM_033056.3", "dbsnp_id": "rs907693214", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI454" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/968/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/968/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/968/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/968/gene/?format=api" }, "data": { "type": "Gene", "id": "PCDH15" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/968/?format=api" } }, { "type": "SmallVariant", "id": "2244", "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": 1.642e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.916e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.774e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.509217, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 55582250, "genomic_position_hg38": 53822490, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.091379", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.5257C>A", "protein_change": "p.Pro1706Thr", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1038" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2244/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2244/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2244/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2244/gene/?format=api" }, "data": { "type": "Gene", "id": "PCDH15" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2244/?format=api" } }, { "type": "SmallVariant", "id": "2871", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.0006206, "gnomad_AFR_maf": 0.000123, "gnomad_AMR_maf": 0.0005205, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0002772, "gnomad_NFE_maf": 0.0009325, "gnomad_OTH_maf": 0.0006517, "gnomad_SAS_maf": 0.0006533, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.060509, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 55600246, "genomic_position_hg38": 53840486, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.746960", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.3832C>A", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1370" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2871/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2871/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2871/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2871/gene/?format=api" }, "data": { "type": "Gene", "id": "PCDH15" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2871/?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) 2026 · 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": 7 } }