Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI863/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1888", "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": 0.0001087, "gnomad_FIN_maf": 0.0001848, "gnomad_NFE_maf": 2.637e-05, "gnomad_OTH_maf": 0.0004886, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.190722, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 5283188, "genomic_position_hg38": 5302542, "chromosome": "20", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.924419", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.653T>C", "protein_change": "p.Leu218Pro", "transcript_id": "NM_144773.3", "dbsnp_id": "rs774883653", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI863" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1888/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1888/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1888/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1888/gene/?format=api" }, "data": { "type": "Gene", "id": "PROKR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1888/?format=api" } }, { "type": "SmallVariant", "id": "1889", "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": 0.0005255, "gnomad_AFR_maf": 0.0001845, "gnomad_AMR_maf": 2.894e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001088, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0008188, "gnomad_OTH_maf": 0.0006532, "gnomad_SAS_maf": 0.0009478, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0004651 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.217339, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 83764184, "genomic_position_hg38": 84134868, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.930999", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.196C>T", "protein_change": "p.Arg66Trp", "transcript_id": "NM_006080.2", "dbsnp_id": "rs199979628", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1111" }, { "type": "Combination", "id": "OLI1591" }, { "type": "Combination", "id": "OLI863" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1889/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1889/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1889/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1889/gene/?format=api" }, "data": { "type": "Gene", "id": "SEMA3A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1889/?format=api" } }, { "type": "SmallVariant", "id": "1890", "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": null, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": null, "genomic_position_hg38": null, "chromosome": "8", "annotation_flag": "ambiguous_variant", "lastmodified": "2021-11-24T09:58:55.854528", "ref_allele": "N.A.", "alt_allele": "N.A.", "cdna_change": "c.13C>G", "protein_change": "p.Gln5=", "transcript_id": "N.A.", "dbsnp_id": "N.A.", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI863" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1890/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1890/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1890/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1890/gene/?format=api" }, "data": { "type": "Gene", "id": "EBF2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1890/?format=api" } }, { "type": "SmallVariant", "id": "1891", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0024, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.0099, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.005604, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.8e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.005739, "gnomad_FIN_maf": 0.04962, "gnomad_NFE_maf": 0.001742, "gnomad_OTH_maf": 0.004923, "gnomad_SAS_maf": 6.538e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.179723, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 103234329, "genomic_position_hg38": 103593882, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.937325", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.3712A>C", "protein_change": "p.Asn1238His", "transcript_id": "NM_005045.3", "dbsnp_id": "rs114003896", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI863" }, { "type": "Combination", "id": "OLI905" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1891/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1891/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1891/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1891/gene/?format=api" }, "data": { "type": "Gene", "id": "RELN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1891/?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 } }