Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/COL6A3/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "280", "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": "Benign", "cadd_prediction": 2.48779, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 238234347, "genomic_position_hg38": 237325704, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.171420", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.9349G>A", "protein_change": "p.Asp3117Asn", "transcript_id": "NM_004369.3", "dbsnp_id": "rs1226664855", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI134" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/280/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/280/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/280/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/280/gene/?format=api" }, "data": { "type": "Gene", "id": "COL6A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/280/?format=api" } }, { "type": "SmallVariant", "id": "1191", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0018, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.008, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.006227, "gnomad_AFR_maf": 0.0004922, "gnomad_AMR_maf": 0.002052, "gnomad_ASJ_maf": 0.007045, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.03061, "gnomad_NFE_maf": 0.006017, "gnomad_OTH_maf": 0.008963, "gnomad_SAS_maf": 0.0007512, "ESP_AA_maf": 0.0009079, "ESP_EA_maf": 0.004884 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.057731, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 238280504, "genomic_position_hg38": 237371861, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.687864", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.4156G>A", "protein_change": "p.Glu1386Lys", "transcript_id": "NM_004369.3", "dbsnp_id": "rs146092501", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI570" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1191/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1191/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1191/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1191/gene/?format=api" }, "data": { "type": "Gene", "id": "COL6A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1191/?format=api" } }, { "type": "SmallVariant", "id": "1192", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.003, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0008218, "gnomad_AFR_maf": 6.319e-05, "gnomad_AMR_maf": 0.00048, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.003268, "gnomad_NFE_maf": 0.001033, "gnomad_OTH_maf": 0.0005141, "gnomad_SAS_maf": 3.438e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0009302 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.889265, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 238253403, "genomic_position_hg38": 237344760, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.693729", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.7258C>T", "protein_change": "p.Arg2420Trp", "transcript_id": "NM_004369.3", "dbsnp_id": "rs150165484", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI570" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1192/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1192/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1192/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1192/gene/?format=api" }, "data": { "type": "Gene", "id": "COL6A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1192/?format=api" } }, { "type": "SmallVariant", "id": "1728", "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": 6.730762, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 238289615, "genomic_position_hg38": 237380972, "chromosome": "2", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:50.946177", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.619C>T", "protein_change": "p.Gln207Ter", "transcript_id": "NM_057167", "dbsnp_id": "rs1574724863", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI787" }, { "type": "Combination", "id": "OLI788" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1728/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1728/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1728/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1728/gene/?format=api" }, "data": { "type": "Gene", "id": "COL6A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1728/?format=api" } }, { "type": "SmallVariant", "id": "1746", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 3.982e-06, "gnomad_AFR_maf": 6.164e-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": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.365773, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 238296552, "genomic_position_hg38": 237387909, "chromosome": "2", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:51.060382", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.367G>A", "protein_change": "p.Val123Met", "transcript_id": "NM_057167", "dbsnp_id": "rs542283928", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI794" }, { "type": "Combination", "id": "OLI795" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1746/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1746/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1746/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1746/gene/?format=api" }, "data": { "type": "Gene", "id": "COL6A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1746/?format=api" } }, { "type": "SmallVariant", "id": "3530", "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": 4.208982, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 238244878, "genomic_position_hg38": 237336235, "chromosome": "2", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:28.500698", "ref_allele": "G", "alt_allele": "GG", "cdna_change": "c.8865dupC", "protein_change": "p.Ala2956ArgfsTer13", "transcript_id": "NM_004369.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1678" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3530/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3530/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3530/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3530/gene/?format=api" }, "data": { "type": "Gene", "id": "COL6A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3530/?format=api" } }, { "type": "SmallVariant", "id": "3531", "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": 4.772e-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": 6.155e-05, "gnomad_OTH_maf": 0.0003259, "gnomad_SAS_maf": 9.799e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.14556, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 238274498, "genomic_position_hg38": 237365855, "chromosome": "2", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:28.513502", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.5681C>T", "protein_change": "p.Pro1894Leu", "transcript_id": "NM_004369.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1678" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3531/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3531/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3531/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3531/gene/?format=api" }, "data": { "type": "Gene", "id": "COL6A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3531/?format=api" } }, { "type": "SmallVariant", "id": "3690", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 8.408e-05, "gnomad_AFR_maf": 0.0008013, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.438e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.92e-06, "gnomad_OTH_maf": 0.0003265, "gnomad_SAS_maf": 0.0001307, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.788048, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 238283535, "genomic_position_hg38": 237374892, "chromosome": "2", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:33.724293", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3199G>A", "protein_change": "p.Val1067Met", "transcript_id": "NM_004369.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1740" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3690/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3690/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3690/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3690/gene/?format=api" }, "data": { "type": "Gene", "id": "COL6A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3690/?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": 8 } }