Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/DCTN1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "529", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0032, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0058, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0089, "KGP_genomes_SAS_maf": 0.0031, "gnomad_maf": 0.004604, "gnomad_AFR_maf": 0.00063, "gnomad_AMR_maf": 0.003909, "gnomad_ASJ_maf": 0.01999, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001762, "gnomad_NFE_maf": 0.006149, "gnomad_OTH_maf": 0.005741, "gnomad_SAS_maf": 0.001034, "ESP_AA_maf": 0.001136, "ESP_EA_maf": 0.00768 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.768705, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 74598723, "genomic_position_hg38": 74371596, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.642179", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.586A>G", "protein_change": "p.Ile196Val", "transcript_id": "NM_004082.4", "dbsnp_id": "rs55862001", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI271" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/529/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/529/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/529/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/529/gene/?format=api" }, "data": { "type": "Gene", "id": "DCTN1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/529/?format=api" } }, { "type": "SmallVariant", "id": "537", "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": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001078, "gnomad_AFR_maf": 0.0002461, "gnomad_AMR_maf": 0.001417, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001386, "gnomad_NFE_maf": 0.001802, "gnomad_OTH_maf": 0.001629, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.002326 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.029413, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 74592252, "genomic_position_hg38": 74365125, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.676682", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3146G>A", "protein_change": "p.Arg1049Gln", "transcript_id": "NM_004082.4", "dbsnp_id": "rs72659383", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI277" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/537/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/537/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/537/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/537/gene/?format=api" }, "data": { "type": "Gene", "id": "DCTN1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/537/?format=api" } }, { "type": "SmallVariant", "id": "543", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002884, "gnomad_AFR_maf": 0.0006767, "gnomad_AMR_maf": 0.0009251, "gnomad_ASJ_maf": 0.001587, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0005083, "gnomad_NFE_maf": 0.00496, "gnomad_OTH_maf": 0.001793, "gnomad_SAS_maf": 0.002613, "ESP_AA_maf": 0.0009079, "ESP_EA_maf": 0.004535 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.499074, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 74588717, "genomic_position_hg38": 74361590, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.710897", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.3746C>T", "protein_change": "p.Thr1249Ile", "transcript_id": "NM_004082.4", "dbsnp_id": "rs72466496", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI280" }, { "type": "Combination", "id": "OLI281" }, { "type": "Combination", "id": "OLI663" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/543/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/543/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/543/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/543/gene/?format=api" }, "data": { "type": "Gene", "id": "DCTN1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/543/?format=api" } }, { "type": "SmallVariant", "id": "548", "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": 1.592e-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": 3.52e-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": 1.569669, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 74588653, "genomic_position_hg38": 74361526, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.738386", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.3810C>A", "protein_change": "p.His1270Gln", "transcript_id": "NM_004082.4", "dbsnp_id": "rs755013572", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI283" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/548/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/548/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/548/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/548/gene/?format=api" }, "data": { "type": "Gene", "id": "DCTN1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/548/?format=api" } }, { "type": "SmallVariant", "id": "933", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.003, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001671, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.002283, "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": 2.667701, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 74588664, "genomic_position_hg38": 74361537, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.112001", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3799G>A", "protein_change": "p.Glu1267Lys", "transcript_id": "NM_004082.4", "dbsnp_id": "rs146083590", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI437" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/933/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/933/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/933/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/933/gene/?format=api" }, "data": { "type": "Gene", "id": "DCTN1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/933/?format=api" } }, { "type": "SmallVariant", "id": "1724", "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": 2.742174, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 74589258, "genomic_position_hg38": 74362131, "chromosome": "2", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:50.927362", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.3620T>C", "protein_change": "p.Leu1207Pro", "transcript_id": "NM_004082.5", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI784" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1724/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1724/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1724/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1724/gene/?format=api" }, "data": { "type": "Gene", "id": "DCTN1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1724/?format=api" } }, { "type": "SmallVariant", "id": "2060", "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": "Possibly Damaging", "cadd_prediction": 4.001872, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 74594487, "genomic_position_hg38": 74367360, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.987461", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1843C>T", "protein_change": "p.His615Tyr", "transcript_id": "NM_001135041", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI953" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2060/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2060/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2060/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2060/gene/?format=api" }, "data": { "type": "Gene", "id": "DCTN1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2060/?format=api" } }, { "type": "SmallVariant", "id": "2084", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0106, "KGP_genomes_AFR_maf": 0.0023, "KGP_genomes_AMR_maf": 0.0231, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0288, "KGP_genomes_SAS_maf": 0.0051, "gnomad_maf": 0.02266, "gnomad_AFR_maf": 0.005057, "gnomad_AMR_maf": 0.02002, "gnomad_ASJ_maf": 0.03345, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.03031, "gnomad_NFE_maf": 0.03152, "gnomad_OTH_maf": 0.02824, "gnomad_SAS_maf": 0.00572, "ESP_AA_maf": 0.006582, "ESP_EA_maf": 0.03174 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.383457, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 74588605, "genomic_position_hg38": 74361478, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.113074", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.*21C>T", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI964" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2084/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2084/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2084/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2084/gene/?format=api" }, "data": { "type": "Gene", "id": "DCTN1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2084/?format=api" } }, { "type": "SmallVariant", "id": "3433", "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": 0.809869, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 74592264, "genomic_position_hg38": 74365137, "chromosome": "2", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:25.437894", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.3134T>C", "protein_change": "p.Ile1045Thr", "transcript_id": "NM_004082.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1631" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3433/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3433/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3433/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3433/gene/?format=api" }, "data": { "type": "Gene", "id": "DCTN1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3433/?format=api" } }, { "type": "SmallVariant", "id": "3445", "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": 1.211e-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": 0.0, "gnomad_OTH_maf": 0.0001641, "gnomad_SAS_maf": 6.534e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.150253, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 74605347, "genomic_position_hg38": 74378220, "chromosome": "2", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:25.814191", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.59C>T", "protein_change": "p.Ala20Val", "transcript_id": "NM_004082.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1638" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3445/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3445/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3445/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3445/gene/?format=api" }, "data": { "type": "Gene", "id": "DCTN1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3445/?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": 10 } }