← Back to variant description
GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 10-125788988-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=125788988&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 125788988,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001324036.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Pro226Pro",
"transcript": "NM_000375.3",
"protein_id": "NP_000366.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 265,
"cds_start": 678,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368797.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000375.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Pro226Pro",
"transcript": "ENST00000368797.10",
"protein_id": "ENSP00000357787.4",
"transcript_support_level": 1,
"aa_start": 226,
"aa_end": null,
"aa_length": 265,
"cds_start": 678,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000375.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368797.10"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Pro226Pro",
"transcript": "ENST00000368786.5",
"protein_id": "ENSP00000357775.1",
"transcript_support_level": 1,
"aa_start": 226,
"aa_end": null,
"aa_length": 265,
"cds_start": 678,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368786.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.858C>T",
"hgvs_p": "p.Pro286Pro",
"transcript": "ENST00000940865.1",
"protein_id": "ENSP00000610924.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 325,
"cds_start": 858,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940865.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.855C>T",
"hgvs_p": "p.Pro285Pro",
"transcript": "ENST00000879953.1",
"protein_id": "ENSP00000550012.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 324,
"cds_start": 855,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879953.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.834C>T",
"hgvs_p": "p.Pro278Pro",
"transcript": "ENST00000879950.1",
"protein_id": "ENSP00000550009.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 317,
"cds_start": 834,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879950.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.834C>T",
"hgvs_p": "p.Pro278Pro",
"transcript": "ENST00000940867.1",
"protein_id": "ENSP00000610926.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 317,
"cds_start": 834,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940867.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.780C>T",
"hgvs_p": "p.Pro260Pro",
"transcript": "ENST00000940866.1",
"protein_id": "ENSP00000610925.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 299,
"cds_start": 780,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940866.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.777C>T",
"hgvs_p": "p.Pro259Pro",
"transcript": "ENST00000879956.1",
"protein_id": "ENSP00000550015.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 298,
"cds_start": 777,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879956.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Pro253Pro",
"transcript": "NM_001324036.2",
"protein_id": "NP_001310965.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 292,
"cds_start": 759,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324036.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Pro253Pro",
"transcript": "ENST00000650587.1",
"protein_id": "ENSP00000497366.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 292,
"cds_start": 759,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650587.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.729C>T",
"hgvs_p": "p.Pro243Pro",
"transcript": "ENST00000879945.1",
"protein_id": "ENSP00000550004.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 282,
"cds_start": 729,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879945.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.699C>T",
"hgvs_p": "p.Pro233Pro",
"transcript": "ENST00000879955.1",
"protein_id": "ENSP00000550014.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 272,
"cds_start": 699,
"cds_end": null,
"cds_length": 819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879955.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.684C>T",
"hgvs_p": "p.Pro228Pro",
"transcript": "ENST00000961000.1",
"protein_id": "ENSP00000631059.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 267,
"cds_start": 684,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961000.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Pro226Pro",
"transcript": "NM_001324037.2",
"protein_id": "NP_001310966.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 265,
"cds_start": 678,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324037.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Pro226Pro",
"transcript": "ENST00000649536.1",
"protein_id": "ENSP00000497817.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 265,
"cds_start": 678,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649536.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Pro226Pro",
"transcript": "ENST00000713579.1",
"protein_id": "ENSP00000518871.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 265,
"cds_start": 678,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713579.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Pro226Pro",
"transcript": "ENST00000879943.1",
"protein_id": "ENSP00000550002.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 265,
"cds_start": 678,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879943.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Pro226Pro",
"transcript": "ENST00000879944.1",
"protein_id": "ENSP00000550003.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 265,
"cds_start": 678,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879944.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Pro226Pro",
"transcript": "ENST00000879948.1",
"protein_id": "ENSP00000550007.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 265,
"cds_start": 678,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879948.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Pro226Pro",
"transcript": "ENST00000879949.1",
"protein_id": "ENSP00000550008.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 265,
"cds_start": 678,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879949.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Pro226Pro",
"transcript": "ENST00000879951.1",
"protein_id": "ENSP00000550010.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 265,
"cds_start": 678,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879951.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Pro226Pro",
"transcript": "ENST00000879958.1",
"protein_id": "ENSP00000550017.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 265,
"cds_start": 678,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879958.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Pro226Pro",
"transcript": "ENST00000940868.1",
"protein_id": "ENSP00000610927.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 265,
"cds_start": 678,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940868.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Pro226Pro",
"transcript": "ENST00000940869.1",
"protein_id": "ENSP00000610928.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 265,
"cds_start": 678,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940869.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Pro226Pro",
"transcript": "ENST00000961001.1",
"protein_id": "ENSP00000631060.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 265,
"cds_start": 678,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961001.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.666C>T",
"hgvs_p": "p.Pro222Pro",
"transcript": "ENST00000879952.1",
"protein_id": "ENSP00000550011.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 261,
"cds_start": 666,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879952.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.603C>T",
"hgvs_p": "p.Pro201Pro",
"transcript": "ENST00000879954.1",
"protein_id": "ENSP00000550013.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 240,
"cds_start": 603,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879954.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.603C>T",
"hgvs_p": "p.Pro201Pro",
"transcript": "ENST00000879957.1",
"protein_id": "ENSP00000550016.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 240,
"cds_start": 603,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879957.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.597C>T",
"hgvs_p": "p.Pro199Pro",
"transcript": "NM_001324038.2",
"protein_id": "NP_001310967.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 238,
"cds_start": 597,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324038.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.597C>T",
"hgvs_p": "p.Pro199Pro",
"transcript": "ENST00000879942.1",
"protein_id": "ENSP00000550001.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 238,
"cds_start": 597,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879942.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.597C>T",
"hgvs_p": "p.Pro199Pro",
"transcript": "ENST00000879947.1",
"protein_id": "ENSP00000550006.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 238,
"cds_start": 597,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879947.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.528C>T",
"hgvs_p": "p.Pro176Pro",
"transcript": "ENST00000879959.1",
"protein_id": "ENSP00000550018.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 215,
"cds_start": 528,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879959.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.522C>T",
"hgvs_p": "p.Pro174Pro",
"transcript": "ENST00000961002.1",
"protein_id": "ENSP00000631061.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 213,
"cds_start": 522,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961002.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.513C>T",
"hgvs_p": "p.Pro171Pro",
"transcript": "ENST00000879946.1",
"protein_id": "ENSP00000550005.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 210,
"cds_start": 513,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879946.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Pro253Pro",
"transcript": "XM_017016611.3",
"protein_id": "XP_016872100.2",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 292,
"cds_start": 759,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016611.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Pro226Pro",
"transcript": "XM_024448154.2",
"protein_id": "XP_024303922.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 265,
"cds_start": 678,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448154.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.678C>T",
"hgvs_p": "p.Pro226Pro",
"transcript": "XM_047425708.1",
"protein_id": "XP_047281664.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 265,
"cds_start": 678,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425708.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.241-3149C>T",
"hgvs_p": null,
"transcript": "ENST00000622016.4",
"protein_id": "ENSP00000483041.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": null,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622016.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.160-3728C>T",
"hgvs_p": null,
"transcript": "ENST00000616800.4",
"protein_id": "ENSP00000482520.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 67,
"cds_start": null,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616800.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.661-3149C>T",
"hgvs_p": null,
"transcript": "XM_017016612.3",
"protein_id": "XP_016872101.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": null,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016612.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "c.661-3728C>T",
"hgvs_p": null,
"transcript": "XM_011540127.3",
"protein_id": "XP_011538429.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": null,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540127.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "n.*539C>T",
"hgvs_p": null,
"transcript": "ENST00000464267.1",
"protein_id": "ENSP00000497095.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000464267.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "n.*364C>T",
"hgvs_p": null,
"transcript": "ENST00000465577.6",
"protein_id": "ENSP00000498183.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000465577.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "n.366C>T",
"hgvs_p": null,
"transcript": "ENST00000470483.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000470483.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "n.451C>T",
"hgvs_p": null,
"transcript": "ENST00000484541.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000484541.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "n.*676C>T",
"hgvs_p": null,
"transcript": "ENST00000648427.1",
"protein_id": "ENSP00000497909.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000648427.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "n.*373C>T",
"hgvs_p": null,
"transcript": "ENST00000650185.1",
"protein_id": "ENSP00000497155.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650185.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "n.3064C>T",
"hgvs_p": null,
"transcript": "ENST00000650472.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000650472.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "n.*366C>T",
"hgvs_p": null,
"transcript": "ENST00000650524.1",
"protein_id": "ENSP00000498108.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650524.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "n.753C>T",
"hgvs_p": null,
"transcript": "NR_136675.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136675.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "n.1180C>T",
"hgvs_p": null,
"transcript": "NR_136676.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136676.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "n.664C>T",
"hgvs_p": null,
"transcript": "NR_136678.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136678.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "n.*539C>T",
"hgvs_p": null,
"transcript": "ENST00000464267.1",
"protein_id": "ENSP00000497095.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000464267.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "n.*364C>T",
"hgvs_p": null,
"transcript": "ENST00000465577.6",
"protein_id": "ENSP00000498183.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000465577.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "n.*676C>T",
"hgvs_p": null,
"transcript": "ENST00000648427.1",
"protein_id": "ENSP00000497909.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000648427.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "n.*373C>T",
"hgvs_p": null,
"transcript": "ENST00000650185.1",
"protein_id": "ENSP00000497155.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650185.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "n.*366C>T",
"hgvs_p": null,
"transcript": "ENST00000650524.1",
"protein_id": "ENSP00000498108.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650524.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"hgvs_c": "n.917-3149C>T",
"hgvs_p": null,
"transcript": "NR_136677.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136677.2"
}
],
"gene_symbol": "UROS",
"gene_hgnc_id": 12592,
"dbsnp": "rs369972241",
"frequency_reference_population": 0.000007440356,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000616189,
"gnomad_genomes_af": 0.0000197062,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.44999998807907104,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.048,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001324036.2",
"gene_symbol": "UROS",
"hgnc_id": 12592,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.759C>T",
"hgvs_p": "p.Pro253Pro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}