Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1532/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "381", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.005, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.002842, "gnomad_AFR_maf": 0.0005536, "gnomad_AMR_maf": 0.002343, "gnomad_ASJ_maf": 0.005858, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001987, "gnomad_NFE_maf": 0.004183, "gnomad_OTH_maf": 0.002935, "gnomad_SAS_maf": 0.0009472, "ESP_AA_maf": 0.0006809, "ESP_EA_maf": 0.003488 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.003863, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 68619737, "genomic_position_hg38": 67754019, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.755387", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.317A>G", "protein_change": "p.Gln106Arg", "transcript_id": "NM_000406.2", "dbsnp_id": "rs104893836", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 14 }, "data": [ { "type": "Combination", "id": "OLI195" }, { "type": "Combination", "id": "OLI199" }, { "type": "Combination", "id": "OLI1165" }, { "type": "Combination", "id": "OLI1239" }, { "type": "Combination", "id": "OLI1275" }, { "type": "Combination", "id": "OLI1277" }, { "type": "Combination", "id": "OLI1288" }, { "type": "Combination", "id": "OLI1296" }, { "type": "Combination", "id": "OLI1300" }, { "type": "Combination", "id": "OLI1377" }, { "type": "Combination", "id": "OLI1379" }, { "type": "Combination", "id": "OLI1385" }, { "type": "Combination", "id": "OLI1532" }, { "type": "Combination", "id": "OLI1604" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/381/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/381/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/381/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/381/gene/?format=api" }, "data": { "type": "Gene", "id": "GNRHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/381/?format=api" } }, { "type": "SmallVariant", "id": "3217", "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": 0.0001364, "gnomad_AFR_maf": 7.6e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002567, "gnomad_OTH_maf": 0.0002208, "gnomad_SAS_maf": 0.0001048, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.415747, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 153700982, "genomic_position_hg38": 154472639, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.781103", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.5570G>A", "protein_change": "p.Arg1857Gln", "transcript_id": "NM_017514", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1532" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3217/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3217/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3217/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3217/gene/?format=api" }, "data": { "type": "Gene", "id": "PLXNA3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3217/?format=api" } }, { "type": "SmallVariant", "id": "3218", "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": 2.449212, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 122766795, "genomic_position_hg38": 121845640, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.787303", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.1094A>T", "protein_change": "p.Gln365Leu", "transcript_id": "NM_176824", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1532" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3218/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3218/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3218/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3218/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3218/?format=api" } }, { "type": "SmallVariant", "id": "3219", "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": 1.595e-05, "gnomad_AFR_maf": 0.0001251, "gnomad_AMR_maf": 5.783e-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": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.657069, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42718595, "genomic_position_hg38": 42718493, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.793560", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.1007A>G", "protein_change": "p.His336Arg", "transcript_id": "NM_001242399", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1532" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3219/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3219/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3219/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3219/gene/?format=api" }, "data": { "type": "Gene", "id": "GHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3219/?format=api" } }, { "type": "SmallVariant", "id": "3220", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0026, "KGP_genomes_AFR_maf": 0.0098, "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": 0.0009027, "gnomad_AFR_maf": 0.01218, "gnomad_AMR_maf": 0.0004047, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001143, "gnomad_OTH_maf": 0.0003258, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.595888, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 5141619, "genomic_position_hg38": 5099427, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.799993", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.548A>T", "protein_change": "p.Lys183Met", "transcript_id": "NM_001253908", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1532" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3220/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3220/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3220/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3220/gene/?format=api" }, "data": { "type": "Gene", "id": "AKR1C3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3220/?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 } }