Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/PLXNB1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1900", "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": 2.854879, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 48454265, "genomic_position_hg38": 48412856, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.995906", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.4740C>A", "protein_change": "p.His1580Gln", "transcript_id": "NM_001130082.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI869" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1900/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1900/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1900/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1900/gene/?format=api" }, "data": { "type": "Gene", "id": "PLXNB1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1900/?format=api" } }, { "type": "SmallVariant", "id": "1915", "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": 2.405436, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 48462114, "genomic_position_hg38": 48420705, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:52.094483", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1988A>G", "protein_change": "p.Lys663Arg", "transcript_id": "NM_001130082.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI878" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1915/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1915/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1915/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1915/gene/?format=api" }, "data": { "type": "Gene", "id": "PLXNB1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1915/?format=api" } }, { "type": "SmallVariant", "id": "1919", "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": 4.457978, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 48451468, "genomic_position_hg38": 48410059, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:52.120345", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.5624A>G", "protein_change": "p.Asp1875Gly", "transcript_id": "NM_001130082.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI880" }, { "type": "Combination", "id": "OLI885" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1919/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1919/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1919/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1919/gene/?format=api" }, "data": { "type": "Gene", "id": "PLXNB1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1919/?format=api" } }, { "type": "SmallVariant", "id": "1935", "attributes": { "frequencies": { "KGP_genomes_maf": 0.002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0099, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0005619, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.895e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.007614, "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": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.016374, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 48464338, "genomic_position_hg38": 48422929, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:52.224233", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1126C>T", "protein_change": "p.Pro376Ser", "transcript_id": "NM_001130082.2", "dbsnp_id": "rs200514394", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI888" }, { "type": "Combination", "id": "OLI889" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1935/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1935/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1935/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1935/gene/?format=api" }, "data": { "type": "Gene", "id": "PLXNB1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1935/?format=api" } }, { "type": "SmallVariant", "id": "1953", "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": 2.77283, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 48460742, "genomic_position_hg38": 48419333, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:52.334591", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.2743T>C", "protein_change": "p.Cys915Arg", "transcript_id": "NM_001130082.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI902" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1953/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1953/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1953/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1953/gene/?format=api" }, "data": { "type": "Gene", "id": "PLXNB1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1953/?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 } }