Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1538/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3231", "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": "Damaging", "cadd_prediction": 3.179604, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 155595616, "genomic_position_hg38": 155802922, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.868682", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.1367G>C", "protein_change": "p.Gly456Ala", "transcript_id": "NM_000193", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1538" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3231/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3231/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3231/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3231/gene/?format=api" }, "data": { "type": "Gene", "id": "SHH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3231/?format=api" } }, { "type": "SmallVariant", "id": "3232", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0023, "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": 0.0001154, "gnomad_AFR_maf": 0.0004922, "gnomad_AMR_maf": 0.0002027, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001144, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.268e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 1.478997, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42695158, "genomic_position_hg38": 42695056, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.874965", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.427G>T", "protein_change": "p.Val143Leu", "transcript_id": "NM_001242399", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1538" }, { "type": "Combination", "id": "OLI1541" }, { "type": "Combination", "id": "OLI1559" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3232/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3232/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3232/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3232/gene/?format=api" }, "data": { "type": "Gene", "id": "GHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3232/?format=api" } }, { "type": "SmallVariant", "id": "3233", "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": 2.243e-05, "gnomad_AFR_maf": 9.441e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 6.253e-05, "gnomad_NFE_maf": 1.353e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 4.116e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.175848, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 21346030, "genomic_position_hg38": 20991741, "chromosome": "22", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.881356", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.905C>T", "protein_change": "p.Ala302Val", "transcript_id": "NM_006767", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1538" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3233/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3233/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3233/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3233/gene/?format=api" }, "data": { "type": "Gene", "id": "LZTR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3233/?format=api" } }, { "type": "SmallVariant", "id": "3209", "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": 0.0001799, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0003188, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002924, "gnomad_OTH_maf": 0.0001638, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.092511, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 1807820, "genomic_position_hg38": 1806093, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.731635", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1885G>A", "protein_change": "p.Glu629Lys", "transcript_id": "NM_001163213", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1528" }, { "type": "Combination", "id": "OLI1538" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3209/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3209/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3209/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3209/gene/?format=api" }, "data": { "type": "Gene", "id": "FGFR3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3209/?format=api" } }, { "type": "SmallVariant", "id": "3234", "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": 1.987648, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 14308065, "genomic_position_hg38": 14327419, "chromosome": "20", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.887632", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.88T>C", "protein_change": "p.Ser30Pro", "transcript_id": "NM_013281", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1538" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3234/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3234/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3234/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3234/gene/?format=api" }, "data": { "type": "Gene", "id": "FLRT3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3234/?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 } }