Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/NKX2-1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1227", "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": "14", "annotation_flag": "not_found_in_databases", "lastmodified": "2021-10-18T11:01:05.997969", "ref_allele": null, "alt_allele": null, "cdna_change": null, "protein_change": "p.Arg151Cys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI580" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1227/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1227/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1227/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1227/gene/?format=api" }, "data": { "type": "Gene", "id": "NKX2-1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1227/?format=api" } }, { "type": "SmallVariant", "id": "1231", "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": "14", "annotation_flag": "not_found_in_databases", "lastmodified": "2021-10-18T11:01:06.055107", "ref_allele": null, "alt_allele": null, "cdna_change": null, "protein_change": "p.His60ThrfsTer11", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI582" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1231/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1231/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1231/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1231/gene/?format=api" }, "data": { "type": "Gene", "id": "NKX2-1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1231/?format=api" } }, { "type": "SmallVariant", "id": "1249", "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": "14", "annotation_flag": "not_found_in_databases", "lastmodified": "2021-10-18T11:01:06.299220", "ref_allele": null, "alt_allele": null, "cdna_change": null, "protein_change": "p.Ala52ArgfsTer351", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI588" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1249/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1249/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1249/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1249/gene/?format=api" }, "data": { "type": "Gene", "id": "NKX2-1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1249/?format=api" } }, { "type": "SmallVariant", "id": "359", "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": 2.131207, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 36988556, "genomic_position_hg38": 36519351, "chromosome": "14", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:42.618744", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.7A>T", "protein_change": "p.Met3Leu", "transcript_id": "NM_003317.4", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI184" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/359/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/359/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/359/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/359/gene/?format=api" }, "data": { "type": "Gene", "id": "NKX2-1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/359/?format=api" } }, { "type": "SmallVariant", "id": "2358", "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": 0.0002168, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.003418, "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": 2.237074, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 36986635, "genomic_position_hg38": 36517430, "chromosome": "14", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.790529", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Gly352Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1081" }, { "type": "Combination", "id": "OLI1082" }, { "type": "Combination", "id": "OLI1083" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2358/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2358/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2358/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2358/gene/?format=api" }, "data": { "type": "Gene", "id": "NKX2-1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2358/?format=api" } }, { "type": "SmallVariant", "id": "2364", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001706, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.002291, "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": 2.488323, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 36986583, "genomic_position_hg38": 36517378, "chromosome": "14", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.828143", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1106C>T", "protein_change": "p.Ala369Val", "transcript_id": "NM_001079668.3", "dbsnp_id": "rs537209983", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1084" }, { "type": "Combination", "id": "OLI1502" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2364/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2364/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2364/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2364/gene/?format=api" }, "data": { "type": "Gene", "id": "NKX2-1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2364/?format=api" } }, { "type": "SmallVariant", "id": "3148", "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": 0.0002168, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.003418, "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": 2.237074, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 36986635, "genomic_position_hg38": 36517430, "chromosome": "14", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.370947", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1054G>A", "protein_change": "p.Gly352Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1499" }, { "type": "Combination", "id": "OLI1500" }, { "type": "Combination", "id": "OLI1501" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3148/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3148/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3148/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3148/gene/?format=api" }, "data": { "type": "Gene", "id": "NKX2-1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3148/?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": 7 } }