Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI914/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1939", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.005, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0006286, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.008483, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0003261, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 1.725102, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 49519387, "genomic_position_hg38": 49016130, "chromosome": "19", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:52.250410", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.364G>A", "protein_change": "p.Gly122Ser", "transcript_id": "NM_000894.2", "dbsnp_id": "rs5030774", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI1105" }, { "type": "Combination", "id": "OLI1110" }, { "type": "Combination", "id": "OLI890" }, { "type": "Combination", "id": "OLI914" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1939/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1939/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1939/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1939/gene/?format=api" }, "data": { "type": "Gene", "id": "LHB" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1939/?format=api" } }, { "type": "SmallVariant", "id": "1971", "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": 7.96e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.438e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.802e-06, "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": 4.113846, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 205035640, "genomic_position_hg38": 205066512, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:52.451472", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.1888C>G", "protein_change": "p.Arg630Gly", "transcript_id": "NM_001346083.1", "dbsnp_id": "rs574231253", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI914" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1971/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1971/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1971/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1971/gene/?format=api" }, "data": { "type": "Gene", "id": "CNTN2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1971/?format=api" } }, { "type": "SmallVariant", "id": "1972", "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": 3.977e-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": 8.791e-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": "Possibly Damaging", "cadd_prediction": 3.611645, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 74706938, "genomic_position_hg38": 74414597, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:52.457948", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1244G>A", "protein_change": "p.Arg415His", "transcript_id": "NM_003612.4", "dbsnp_id": "rs771316934", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI914" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1972/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1972/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1972/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1972/gene/?format=api" }, "data": { "type": "Gene", "id": "SEMA7A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1972/?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": 3 } }