Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/HOXB3/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2370", "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": null, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": null, "genomic_position_hg38": null, "chromosome": "17", "annotation_flag": null, "lastmodified": "2022-08-04T14:15:32.809875", "ref_allele": null, "alt_allele": null, "cdna_change": null, "protein_change": "p.Gly163delinsGlyGlyGlyGly", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1088" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2370/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2370/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2370/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2370/gene/?format=api" }, "data": { "type": "Gene", "id": "HOXB3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2370/?format=api" } }, { "type": "SmallVariant", "id": "2368", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.755252, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 46629641, "genomic_position_hg38": 48552279, "chromosome": "17", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.853028", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.196A>C", "protein_change": "p.Ser66Arg", "transcript_id": "NM_002146.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1087" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2368/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2368/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2368/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2368/gene/?format=api" }, "data": { "type": "Gene", "id": "HOXB3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2368/?format=api" } }, { "type": "SmallVariant", "id": "2382", "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": 2.408e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001723, "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": 3.449116, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 46628444, "genomic_position_hg38": 48551082, "chromosome": "17", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.927188", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.548C>T", "protein_change": "p.Pro183Leu", "transcript_id": "NM_002146.4", "dbsnp_id": "rs769209543", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1094" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2382/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2382/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2382/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2382/gene/?format=api" }, "data": { "type": "Gene", "id": "HOXB3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2382/?format=api" } }, { "type": "SmallVariant", "id": "3134", "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": 4.05e-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": 8.95e-06, "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": 3.148823, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 46628133, "genomic_position_hg38": 48550771, "chromosome": "17", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.284527", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.859G>A", "protein_change": "p.Glu287Lys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1488" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3134/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3134/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3134/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3134/gene/?format=api" }, "data": { "type": "Gene", "id": "HOXB3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3134/?format=api" } }, { "type": "SmallVariant", "id": "3135", "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": 3.99e-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": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.666766, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 46629547, "genomic_position_hg38": 48552185, "chromosome": "17", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.290877", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.290C>A", "protein_change": "p.Thr97Asn", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1489" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3135/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3135/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3135/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3135/gene/?format=api" }, "data": { "type": "Gene", "id": "HOXB3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3135/?format=api" } }, { "type": "SmallVariant", "id": "3151", "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": 0.387735, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 46628503, "genomic_position_hg38": 48551141, "chromosome": "17", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.389276", "ref_allele": "T", "alt_allele": "TCCGCCGCCG", "cdna_change": "c.488_489insCGGCGGCGG", "protein_change": "p.Gly163delinsGlyGlyGlyGly", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1504" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3151/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3151/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3151/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3151/gene/?format=api" }, "data": { "type": "Gene", "id": "HOXB3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3151/?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 } }