Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/GHR/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1957", "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": 1.992e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0002175, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0001634, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.497423, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 42699983, "genomic_position_hg38": 42699881, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:52.360683", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.497G>A", "protein_change": "p.Gly166Glu", "transcript_id": "NM_001242406.2", "dbsnp_id": "rs761856079", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI906" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1957/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1957/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1957/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1957/gene/?format=api" }, "data": { "type": "Gene", "id": "GHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1957/?format=api" } }, { "type": "SmallVariant", "id": "1967", "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": 7.961e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001088, "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": "Damaging", "cadd_prediction": 3.867574, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42719464, "genomic_position_hg38": 42719362, "chromosome": "5", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:52.425284", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.1855A>G", "protein_change": "p.Lys619Glu", "transcript_id": "NM_000163.4", "dbsnp_id": "rs761326985", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI911" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1967/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1967/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1967/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1967/gene/?format=api" }, "data": { "type": "Gene", "id": "GHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1967/?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": "3222", "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": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.671972, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 42700078, "genomic_position_hg38": 42699976, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.812666", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.613G>A", "protein_change": "p.Glu205Lys", "transcript_id": "NM_001242399", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1533" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3222/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3222/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3222/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3222/gene/?format=api" }, "data": { "type": "Gene", "id": "GHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3222/?format=api" } }, { "type": "SmallVariant", "id": "3232", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0023, "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": 0.0001154, "gnomad_AFR_maf": 0.0004922, "gnomad_AMR_maf": 0.0002027, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001144, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.268e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 1.478997, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42695158, "genomic_position_hg38": 42695056, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.874965", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.427G>T", "protein_change": "p.Val143Leu", "transcript_id": "NM_001242399", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1538" }, { "type": "Combination", "id": "OLI1541" }, { "type": "Combination", "id": "OLI1559" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3232/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3232/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3232/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3232/gene/?format=api" }, "data": { "type": "Gene", "id": "GHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3232/?format=api" } }, { "type": "SmallVariant", "id": "3249", "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": 8.059e-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": 8.887e-06, "gnomad_OTH_maf": 0.0001651, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.765755, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42719104, "genomic_position_hg38": 42719002, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.982278", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1516G>A", "protein_change": "p.Val506Met", "transcript_id": "NM_001242399", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1545" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3249/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3249/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3249/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3249/gene/?format=api" }, "data": { "type": "Gene", "id": "GHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3249/?format=api" } }, { "type": "SmallVariant", "id": "3269", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0038, "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": 0.0002564, "gnomad_AFR_maf": 0.003754, "gnomad_AMR_maf": 5.8e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.854e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.11881, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42719151, "genomic_position_hg38": 42719049, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.101006", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.1563T>G", "protein_change": "p.Cys521Trp", "transcript_id": "NM_001242399", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1555" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3269/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3269/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3269/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3269/gene/?format=api" }, "data": { "type": "Gene", "id": "GHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3269/?format=api" } }, { "type": "SmallVariant", "id": "3279", "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": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.176542, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42719037, "genomic_position_hg38": 42718935, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.161926", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.1449C>G", "protein_change": "p.Ser483Arg", "transcript_id": "NM_001242399", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1559" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3279/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3279/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3279/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3279/gene/?format=api" }, "data": { "type": "Gene", "id": "GHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3279/?format=api" } }, { "type": "SmallVariant", "id": "3330", "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": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.081893, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42719189, "genomic_position_hg38": 42719087, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.472337", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.1601A>T", "protein_change": "p.Asn534Ile", "transcript_id": "NM_001242399", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1579" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3330/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3330/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3330/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3330/gene/?format=api" }, "data": { "type": "Gene", "id": "GHR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3330/?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": 9 } }