Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/ROR2/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1531", "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": 2.042e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 8.756e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.802e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 1.12761, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 94487152, "genomic_position_hg38": 91724870, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.727683", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1624G>A", "protein_change": "p.Val542Met", "transcript_id": "NM_004560.3", "dbsnp_id": "rs140213020", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI702" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1531/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1531/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1531/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1531/gene/?format=api" }, "data": { "type": "Gene", "id": "ROR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1531/?format=api" } }, { "type": "SmallVariant", "id": "1664", "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": 0.003, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.002918, "gnomad_AFR_maf": 0.0003697, "gnomad_AMR_maf": 0.0004048, "gnomad_ASJ_maf": 9.925e-05, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.00803, "gnomad_NFE_maf": 0.00454, "gnomad_OTH_maf": 0.003589, "gnomad_SAS_maf": 0.0001307, "ESP_AA_maf": 0.0006809, "ESP_EA_maf": 0.00407 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.920024, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 94486491, "genomic_position_hg38": 91724209, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.568803", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2285C>T", "protein_change": "p.Ser762Leu", "transcript_id": "NM_004560.3", "dbsnp_id": "rs34491822", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI752" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1664/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1664/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1664/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1664/gene/?format=api" }, "data": { "type": "Gene", "id": "ROR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1664/?format=api" } }, { "type": "SmallVariant", "id": "1669", "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": 9.153e-05, "gnomad_AFR_maf": 6.156e-05, "gnomad_AMR_maf": 5.783e-05, "gnomad_ASJ_maf": 9.925e-05, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001672, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.930221, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 94486696, "genomic_position_hg38": 91724414, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.600179", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.2080T>C", "protein_change": "p.Cys694Arg", "transcript_id": "NM_004560.3", "dbsnp_id": "rs142386992", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI754" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1669/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1669/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1669/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1669/gene/?format=api" }, "data": { "type": "Gene", "id": "ROR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1669/?format=api" } }, { "type": "SmallVariant", "id": "3288", "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": "Damaging", "cadd_prediction": 3.542196, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 94519685, "genomic_position_hg38": 91757403, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.216753", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.332T>A", "protein_change": "p.Ile111Asn", "transcript_id": "NM_004560", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1563" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3288/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3288/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3288/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3288/gene/?format=api" }, "data": { "type": "Gene", "id": "ROR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3288/?format=api" } }, { "type": "SmallVariant", "id": "3313", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.0003439, "gnomad_AFR_maf": 0.002894, "gnomad_AMR_maf": 0.0006664, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 9.724e-05, "gnomad_OTH_maf": 0.0004913, "gnomad_SAS_maf": 6.563e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.486228, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 94487193, "genomic_position_hg38": 91724911, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.368428", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1583G>A", "protein_change": "p.Arg528Gln", "transcript_id": "NM_004560", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1570" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3313/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3313/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3313/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3313/gene/?format=api" }, "data": { "type": "Gene", "id": "ROR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3313/?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 } }