Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1557/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3272", "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": 4.052117, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 127255395, "genomic_position_hg38": 124493116, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.119358", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.904T>C", "protein_change": "p.Trp302Arg", "transcript_id": "NM_004959", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1557" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3272/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3272/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3272/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3272/gene/?format=api" }, "data": { "type": "Gene", "id": "NR5A1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3272/?format=api" } }, { "type": "SmallVariant", "id": "3207", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "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": 0.0, "gnomad_maf": 0.0002068, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001445, "gnomad_ASJ_maf": 0.00129, "gnomad_EAS_maf": 0.0004893, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.000211, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.261883, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 57181002, "genomic_position_hg38": 56787218, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.725379", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.830C>T", "protein_change": "p.Pro277Leu", "transcript_id": "NM_003725", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1528" }, { "type": "Combination", "id": "OLI1557" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3207/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3207/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3207/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3207/gene/?format=api" }, "data": { "type": "Gene", "id": "HSD17B6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3207/?format=api" } }, { "type": "SmallVariant", "id": "3273", "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": 2.69575, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 71834104, "genomic_position_hg38": 71784953, "chromosome": "3", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.125366", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.96+4A>G", "protein_change": null, "transcript_id": "NM_001126128", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1557" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3273/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3273/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3273/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3273/gene/?format=api" }, "data": { "type": "Gene", "id": "PROK2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3273/?format=api" } }, { "type": "SmallVariant", "id": "3274", "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": 3.988e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.896e-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": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.5547, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 50222899, "genomic_position_hg38": 50185466, "chromosome": "3", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.131289", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.1480A>G", "protein_change": "p.Ile494Val", "transcript_id": "NM_004186", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1557" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3274/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3274/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3274/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3274/gene/?format=api" }, "data": { "type": "Gene", "id": "SEMA3F" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3274/?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": 4 } }