Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/NEFH/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "939", "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": null, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": null, "genomic_position_hg38": null, "chromosome": "22", "annotation_flag": "ambiguous_variant", "lastmodified": "2021-10-18T11:01:01.112863", "ref_allele": null, "alt_allele": null, "cdna_change": "c.2570A>G", "protein_change": "p.Lys917Glu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI441" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/939/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/939/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/939/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/939/gene/?format=api" }, "data": { "type": "Gene", "id": "NEFH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/939/?format=api" } }, { "type": "SmallVariant", "id": "931", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0014, "KGP_genomes_AFR_maf": 0.003, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.003, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0004574, "gnomad_AFR_maf": 0.0003076, "gnomad_AMR_maf": 8.674e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.005328, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.638e-05, "gnomad_OTH_maf": 0.0003259, "gnomad_SAS_maf": 0.0001307, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.145437, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 29881766, "genomic_position_hg38": 29485777, "chromosome": "22", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.098964", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1138G>A", "protein_change": "p.Ala380Thr", "transcript_id": "NM_021076.3", "dbsnp_id": "rs201416955", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI436" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/931/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/931/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/931/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/931/gene/?format=api" }, "data": { "type": "Gene", "id": "NEFH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/931/?format=api" } }, { "type": "SmallVariant", "id": "1816", "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": 3.999e-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": 8.861e-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": 0.471895, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 29885143, "genomic_position_hg38": 29489154, "chromosome": "22", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:51.469770", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1514C>T", "protein_change": "p.Pro505Leu", "transcript_id": "NM_021076.3", "dbsnp_id": "rs1414968372", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI828" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1816/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1816/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1816/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1816/gene/?format=api" }, "data": { "type": "Gene", "id": "NEFH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1816/?format=api" } }, { "type": "SmallVariant", "id": "3428", "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": 7.858e-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": 0.0, "gnomad_SAS_maf": 4.479e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 5.288611, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 29877134, "genomic_position_hg38": 29481145, "chromosome": "22", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:25.242761", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.883G>A", "protein_change": "p.Val295Met", "transcript_id": "NM_021076.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1629" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3428/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3428/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3428/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3428/gene/?format=api" }, "data": { "type": "Gene", "id": "NEFH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3428/?format=api" } }, { "type": "SmallVariant", "id": "3449", "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": 2.011443, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 29885138, "genomic_position_hg38": 29489149, "chromosome": "22", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:25.931213", "ref_allele": "TCCCCCAGCAGAAGAGGCTGCA", "alt_allele": "T", "cdna_change": "c.1510_1530del", "protein_change": "p.Pro504_Ala510del", "transcript_id": "NM_021076.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1640" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3449/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3449/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3449/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3449/gene/?format=api" }, "data": { "type": "Gene", "id": "NEFH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3449/?format=api" } }, { "type": "SmallVariant", "id": "3613", "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": 9.94e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001364, "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": "Benign", "cadd_prediction": 1.102857, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 29886426, "genomic_position_hg38": 29490437, "chromosome": "22", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:30.921146", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Pro933Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1704" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3613/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3613/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3613/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3613/gene/?format=api" }, "data": { "type": "Gene", "id": "NEFH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3613/?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 } }