Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/USH2A/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "209", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0041, "gnomad_maf": 0.000833, "gnomad_AFR_maf": 0.0002461, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001412, "gnomad_OTH_maf": 0.0008165, "gnomad_SAS_maf": 0.005979, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.687999, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 216371836, "genomic_position_hg38": 216198494, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.750308", "ref_allele": "C", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Gly1301Val", "transcript_id": null, "dbsnp_id": "rs111033524", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI101" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/209/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/209/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/209/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/209/gene/?format=api" }, "data": { "type": "Gene", "id": "USH2A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/209/?format=api" } }, { "type": "SmallVariant", "id": "215", "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": 3.0342, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 215972286, "genomic_position_hg38": 215798944, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.786416", "ref_allele": "A", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Cys3307Trp", "transcript_id": null, "dbsnp_id": "rs1057519382", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI103" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/215/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/215/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/215/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/215/gene/?format=api" }, "data": { "type": "Gene", "id": "USH2A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/215/?format=api" } }, { "type": "SmallVariant", "id": "219", "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": 2.39e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.895e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.411e-05, "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": 3.349763, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 216495263, "genomic_position_hg38": 216321921, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.810881", "ref_allele": "A", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Cys536Arg", "transcript_id": null, "dbsnp_id": "rs111033273", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI105" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/219/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/219/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/219/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/219/gene/?format=api" }, "data": { "type": "Gene", "id": "USH2A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/219/?format=api" } }, { "type": "SmallVariant", "id": "220", "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": 3.985e-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": 8.826e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 5.697354, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 216371818, "genomic_position_hg38": 216198476, "chromosome": "1", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:41.816994", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.3920C>G", "protein_change": "p.Ser1307Ter", "transcript_id": "NM_206933.6", "dbsnp_id": "rs756623509", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI105" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/220/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/220/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/220/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/220/gene/?format=api" }, "data": { "type": "Gene", "id": "USH2A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/220/?format=api" } }, { "type": "SmallVariant", "id": "222", "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": 3.977e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.891e-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": null, "pp2_hvar_prediction": null, "cadd_prediction": 7.514923, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 215808009, "genomic_position_hg38": 215634667, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.829438", "ref_allele": "G", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Ser5030Ter", "transcript_id": null, "dbsnp_id": "rs758660532", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI106" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/222/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/222/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/222/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/222/gene/?format=api" }, "data": { "type": "Gene", "id": "USH2A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/222/?format=api" } }, { "type": "SmallVariant", "id": "224", "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": 5.014244, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 216371699, "genomic_position_hg38": 216198357, "chromosome": "1", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:41.841885", "ref_allele": "TTCCAGCCA", "alt_allele": "T", "cdna_change": "c.4031_4038del", "protein_change": "p.Met1344LysfsTer42", "transcript_id": "NM_206933.4", "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI107" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/224/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/224/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/224/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/224/gene/?format=api" }, "data": { "type": "Gene", "id": "USH2A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/224/?format=api" } }, { "type": "SmallVariant", "id": "246", "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": 3.989e-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": 8.826e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.761112, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 216363621, "genomic_position_hg38": 216190279, "chromosome": "1", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:41.977394", "ref_allele": "CAG", "alt_allele": "C", "cdna_change": "c.4338_4339del", "protein_change": "p.Cys1447GlnfsTer29", "transcript_id": "NM_206933.6", "dbsnp_id": "rs111033367", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI120" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/246/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/246/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/246/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/246/gene/?format=api" }, "data": { "type": "Gene", "id": "USH2A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/246/?format=api" } }, { "type": "SmallVariant", "id": "248", "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": 4.196139, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 216348702, "genomic_position_hg38": 216175360, "chromosome": "1", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:41.989402", "ref_allele": "ACTCT", "alt_allele": "A", "cdna_change": "c.4515_4518del", "protein_change": "p.Arg1505SerfsTer7", "transcript_id": "NM_206933.7", "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI121" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/248/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/248/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/248/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/248/gene/?format=api" }, "data": { "type": "Gene", "id": "USH2A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/248/?format=api" } }, { "type": "SmallVariant", "id": "249", "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": 1.196e-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": 2.651e-05, "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": 3.611394, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 215847937, "genomic_position_hg38": 215674595, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.995297", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Thr4439Ile", "transcript_id": null, "dbsnp_id": "rs753330544", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI121" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/249/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/249/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/249/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/249/gene/?format=api" }, "data": { "type": "Gene", "id": "USH2A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/249/?format=api" } }, { "type": "SmallVariant", "id": "956", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.004, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0002111, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0004966, "gnomad_EAS_maf": 0.002503, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0001633, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.649649, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 216419934, "genomic_position_hg38": 216246592, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.248109", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.2802T>G", "protein_change": "p.Cys934Trp", "transcript_id": "NM_206933.2", "dbsnp_id": "rs201527662", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI449" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/956/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/956/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/956/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/956/gene/?format=api" }, "data": { "type": "Gene", "id": "USH2A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/956/?format=api" } 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