Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/MKS1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1487", "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": 0.0001322, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0005562, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.765e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0006862, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001207 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.50614, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 56290438, "genomic_position_hg38": 58213077, "chromosome": "17", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.465472", "ref_allele": "C", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Gly255Arg", "transcript_id": null, "dbsnp_id": "rs201237547", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI686" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1487/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1487/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1487/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1487/gene/?format=api" }, "data": { "type": "Gene", "id": "MKS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1487/?format=api" } }, { "type": "SmallVariant", "id": "2469", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 1.612e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.897e-05, "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": 9.807e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.634032, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 56283893, "genomic_position_hg38": 58206532, "chromosome": "17", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.440407", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1423C>T", "protein_change": "p.Arg475Cys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1146" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2469/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2469/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2469/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2469/gene/?format=api" }, "data": { "type": "Gene", "id": "MKS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2469/?format=api" } }, { "type": "SmallVariant", "id": "3032", "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": 4.007e-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": 8.828e-06, "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": 1.731988, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 56284535, "genomic_position_hg38": 58207174, "chromosome": "17", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.709912", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1318G>A", "protein_change": "p.Gly440Ser", "transcript_id": "NM_017777.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1443" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3032/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3032/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3032/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3032/gene/?format=api" }, "data": { "type": "Gene", "id": "MKS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3032/?format=api" } }, { "type": "SmallVariant", "id": "3038", "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": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.636157, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 56285495, "genomic_position_hg38": 58208134, "chromosome": "17", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.747804", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1136C>G", "protein_change": "p.Ala379Gly", "transcript_id": "NM_017777.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1447" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3038/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3038/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3038/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3038/gene/?format=api" }, "data": { "type": "Gene", "id": "MKS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3038/?format=api" } }, { "type": "SmallVariant", "id": "3501", "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": 0.0001683, "gnomad_AFR_maf": 6.457e-05, "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": 0.0, "gnomad_SAS_maf": 0.00134, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.49013, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 56283727, "genomic_position_hg38": 58206366, "chromosome": "17", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:27.451412", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1505C>G", "protein_change": "p.Ser502Trp", "transcript_id": "NM_017777.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1666" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3501/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3501/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3501/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3501/gene/?format=api" }, "data": { "type": "Gene", "id": "MKS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3501/?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 } }