Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/DUSP6/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "768", "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": 3.976e-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": 0.0, "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": "Benign", "cadd_prediction": 3.08724, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 89743113, "genomic_position_hg38": 89349336, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.097808", "ref_allele": "T", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Asn355Ile", "transcript_id": null, "dbsnp_id": "rs1345761902", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI353" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/768/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/768/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/768/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/768/gene/?format=api" }, "data": { "type": "Gene", "id": "DUSP6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/768/?format=api" } }, { "type": "SmallVariant", "id": "808", "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": 0.000605, "gnomad_AFR_maf": 0.0001231, "gnomad_AMR_maf": 5.783e-05, "gnomad_ASJ_maf": 0.0007941, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0002773, "gnomad_NFE_maf": 0.001163, "gnomad_OTH_maf": 0.0001631, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.001512 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.235823, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 89744658, "genomic_position_hg38": 89350881, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.335263", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.545C>T", "protein_change": "p.Ser182Phe", "transcript_id": "NM_001946.3", "dbsnp_id": "rs139318648", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI368" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/808/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/808/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/808/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/808/gene/?format=api" }, "data": { "type": "Gene", "id": "DUSP6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/808/?format=api" } }, { "type": "SmallVariant", "id": "810", "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": 0.0001949, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.782e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.000231, "gnomad_NFE_maf": 0.000352, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 6.533e-05, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0004651 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.975293, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 89744637, "genomic_position_hg38": 89350860, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.347882", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.566A>G", "protein_change": "p.Asn189Ser", "transcript_id": "NM_001946.3", "dbsnp_id": "rs143946794", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI369" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/810/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/810/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/810/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/810/gene/?format=api" }, "data": { "type": "Gene", "id": "DUSP6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/810/?format=api" } }, { "type": "SmallVariant", "id": "812", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0002982, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 0.0005204, "gnomad_ASJ_maf": 0.002877, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002198, "gnomad_OTH_maf": 0.0003257, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002326 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.482398, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 89743140, "genomic_position_hg38": 89349363, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.360640", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1037C>T", "protein_change": "p.Thr346Met", "transcript_id": "NM_001946.3", "dbsnp_id": "rs146089505", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI370" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/812/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/812/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/812/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/812/gene/?format=api" }, "data": { "type": "Gene", "id": "DUSP6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/812/?format=api" } }, { "type": "SmallVariant", "id": "2581", "attributes": { "frequencies": { "KGP_genomes_maf": 0.4663, "KGP_genomes_AFR_maf": 0.2753, "KGP_genomes_AMR_maf": 0.4784, "KGP_genomes_EAS_maf": 0.5992, "KGP_genomes_EUR_maf": 0.5557, "KGP_genomes_SAS_maf": 0.4867, "gnomad_maf": 0.5227, "gnomad_AFR_maf": 0.2772, "gnomad_AMR_maf": 0.5166, "gnomad_ASJ_maf": 0.4875, "gnomad_EAS_maf": 0.6094, "gnomad_FIN_maf": 0.6262, "gnomad_NFE_maf": 0.537, "gnomad_OTH_maf": 0.5249, "gnomad_SAS_maf": 0.4815, "ESP_AA_maf": 0.2822, "ESP_EA_maf": 0.5079 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.721811, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 89745477, "genomic_position_hg38": 89351700, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.978683", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.340G>T", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1214" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2581/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2581/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2581/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2581/gene/?format=api" }, "data": { "type": "Gene", "id": "DUSP6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2581/?format=api" } }, { "type": "SmallVariant", "id": "3236", "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": 0.0001038, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.00027, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.000128, "gnomad_OTH_maf": 0.0003503, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.452548, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 89745538, "genomic_position_hg38": 89351761, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.900333", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.279C>G", "protein_change": "p.Asp93Glu", "transcript_id": "NM_001946", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1539" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3236/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3236/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3236/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3236/gene/?format=api" }, "data": { "type": "Gene", "id": "DUSP6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3236/?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": 6 } }