Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/DMXL2/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1793", "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": 6.767e-05, "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": 0.0001321, "gnomad_OTH_maf": 0.0003264, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001165 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.603702, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 51792317, "genomic_position_hg38": 51500120, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.333094", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.3104C>G", "protein_change": "p.Pro1035Arg", "transcript_id": "NM_015263.3", "dbsnp_id": "rs372199887", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI814" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1793/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1793/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1793/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1793/gene/?format=api" }, "data": { "type": "Gene", "id": "DMXL2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1793/?format=api" } }, { "type": "SmallVariant", "id": "1858", "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": 1.993e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0001986, "gnomad_EAS_maf": 5.448e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.815e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.275e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 1.489116, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 51783850, "genomic_position_hg38": 51491653, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.742252", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.4878G>C", "protein_change": "p.Gln1626His", "transcript_id": "NM_015263.3", "dbsnp_id": "rs754695396", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI849" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1858/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1858/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1858/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1858/gene/?format=api" }, "data": { "type": "Gene", "id": "DMXL2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1858/?format=api" } }, { "type": "SmallVariant", "id": "2886", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.001609, "gnomad_AFR_maf": 0.0004306, "gnomad_AMR_maf": 0.0004626, "gnomad_ASJ_maf": 0.0007938, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.000373, "gnomad_NFE_maf": 0.00293, "gnomad_OTH_maf": 0.0009791, "gnomad_SAS_maf": 0.0008495, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.997193, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 51791234, "genomic_position_hg38": 51499037, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.825627", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.4187C>T", "protein_change": "p.Ser1396Phe", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1377" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2886/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2886/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2886/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2886/gene/?format=api" }, "data": { "type": "Gene", "id": "DMXL2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2886/?format=api" } }, { "type": "SmallVariant", "id": "2923", "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": 4.788e-05, "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": 0.0001061, "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": 3.395997, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 51837898, "genomic_position_hg38": 51545701, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.049394", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.812C>G", "protein_change": "p.Thr271Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1392" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2923/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2923/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2923/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2923/gene/?format=api" }, "data": { "type": "Gene", "id": "DMXL2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2923/?format=api" } }, { "type": "SmallVariant", "id": "2942", "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": 2.23655, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 51766572, "genomic_position_hg38": 51474375, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.164676", "ref_allele": "CACA", "alt_allele": "C", "cdna_change": "c.7179_7181del", "protein_change": "p.Val2394del", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1401" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2942/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2942/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2942/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2942/gene/?format=api" }, "data": { "type": "Gene", "id": "DMXL2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2942/?format=api" } }, { "type": "SmallVariant", "id": "2956", "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": 1.121806, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 51773236, "genomic_position_hg38": 51481039, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.249810", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.6067C>G", "protein_change": "p.Pro2023Ala", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1406" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2956/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2956/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2956/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2956/gene/?format=api" }, "data": { "type": "Gene", "id": "DMXL2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2956/?format=api" } }, { "type": "SmallVariant", "id": "2999", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001755, "gnomad_AFR_maf": 0.0006768, "gnomad_AMR_maf": 0.0003183, "gnomad_ASJ_maf": 0.0002977, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001109, "gnomad_NFE_maf": 0.003264, "gnomad_OTH_maf": 0.001796, "gnomad_SAS_maf": 0.0003268, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.017296, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 51773257, "genomic_position_hg38": 51481060, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.513958", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.6046G>A", "protein_change": "p.Asp2016Asn", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1425" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2999/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2999/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2999/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2999/gene/?format=api" }, "data": { "type": "Gene", "id": "DMXL2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2999/?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": 7 } }