Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI932/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2012", "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": "Damaging", "cadd_prediction": 4.344183, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 53563401, "genomic_position_hg38": 53536440, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.694121", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.12365G>A", "protein_change": "p.Arg4122His", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI932" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2012/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2012/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2012/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2012/gene/?format=api" }, "data": { "type": "Gene", "id": "HUWE1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2012/?format=api" } }, { "type": "SmallVariant", "id": "2013", "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": 8.009664, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 72366465, "genomic_position_hg38": 71972685, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.700389", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.775C>T", "protein_change": "p.Gln259Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI932" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2013/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2013/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2013/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2013/gene/?format=api" }, "data": { "type": "Gene", "id": "TPH2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2013/?format=api" } }, { "type": "SmallVariant", "id": "2014", "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": 6.152e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 9.669e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 8.791231, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 24505099, "genomic_position_hg38": 24504871, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.706641", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.612G>A", "protein_change": "p.Trp204Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI932" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2014/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2014/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2014/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2014/gene/?format=api" }, "data": { "type": "Gene", "id": "ALDH5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2014/?format=api" } }, { "type": "SmallVariant", "id": "2015", "attributes": { "frequencies": { "KGP_genomes_maf": 0.3147, "KGP_genomes_AFR_maf": 0.466, "KGP_genomes_AMR_maf": 0.219, "KGP_genomes_EAS_maf": 0.1667, "KGP_genomes_EUR_maf": 0.3231, "KGP_genomes_SAS_maf": 0.3221, "gnomad_maf": 0.3101, "gnomad_AFR_maf": 0.448, "gnomad_AMR_maf": 0.2115, "gnomad_ASJ_maf": 0.2437, "gnomad_EAS_maf": 0.1857, "gnomad_FIN_maf": 0.3362, "gnomad_NFE_maf": 0.3383, "gnomad_OTH_maf": 0.3027, "gnomad_SAS_maf": 0.3237, "ESP_AA_maf": 0.4396, "ESP_EA_maf": 0.3362 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.420902, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 24503590, "genomic_position_hg38": 24503362, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.712847", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.538C>T", "protein_change": "p.His180Tyr", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI932" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2015/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2015/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2015/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2015/gene/?format=api" }, "data": { "type": "Gene", "id": "ALDH5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2015/?format=api" } }, { "type": "SmallVariant", "id": "2016", "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": 7.983e-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": 1.763e-05, "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": "Damaging", "cadd_prediction": 4.199206, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 33651870, "genomic_position_hg38": 33684093, "chromosome": "6", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.719260", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.4862T>C", "protein_change": "p.Leu1621Pro", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI932" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2016/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2016/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2016/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2016/gene/?format=api" }, "data": { "type": "Gene", "id": "ITPR3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2016/?format=api" } }, { "type": "SmallVariant", "id": "2017", "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": "Damaging", "cadd_prediction": 4.420771, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 461811, "genomic_position_hg38": 415871, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.725514", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.757C>T", "protein_change": "p.Arg253Trp", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI932" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2017/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2017/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2017/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2017/gene/?format=api" }, "data": { "type": "Gene", "id": "DIP2C" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2017/?format=api" } }, { "type": "SmallVariant", "id": "2018", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001204, "gnomad_AFR_maf": 0.0002464, "gnomad_AMR_maf": 0.0008128, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.256e-05, "gnomad_NFE_maf": 0.001739, "gnomad_OTH_maf": 0.000657, "gnomad_SAS_maf": 0.002195, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0009302 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.309827, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 11389502, "genomic_position_hg38": 11348028, "chromosome": "3", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.731832", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1277C>T", "protein_change": "p.Pro426Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI932" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2018/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2018/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2018/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2018/gene/?format=api" }, "data": { "type": "Gene", "id": "ATG7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2018/?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 } }