← 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: 9-99147675-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=99147675&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 99147675,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001306210.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1277T>G",
"hgvs_p": "p.Leu426Arg",
"transcript": "NM_004612.4",
"protein_id": "NP_004603.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 503,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374994.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004612.4"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1277T>G",
"hgvs_p": "p.Leu426Arg",
"transcript": "ENST00000374994.9",
"protein_id": "ENSP00000364133.4",
"transcript_support_level": 1,
"aa_start": 426,
"aa_end": null,
"aa_length": 503,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004612.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374994.9"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1289T>G",
"hgvs_p": "p.Leu430Arg",
"transcript": "ENST00000552516.5",
"protein_id": "ENSP00000447297.1",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 507,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552516.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1046T>G",
"hgvs_p": "p.Leu349Arg",
"transcript": "ENST00000374990.6",
"protein_id": "ENSP00000364129.2",
"transcript_support_level": 1,
"aa_start": 349,
"aa_end": null,
"aa_length": 426,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374990.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1289T>G",
"hgvs_p": "p.Leu430Arg",
"transcript": "NM_001306210.2",
"protein_id": "NP_001293139.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 507,
"cds_start": 1289,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306210.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1274T>G",
"hgvs_p": "p.Leu425Arg",
"transcript": "ENST00000714345.1",
"protein_id": "ENSP00000519616.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 502,
"cds_start": 1274,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714345.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1199T>G",
"hgvs_p": "p.Leu400Arg",
"transcript": "ENST00000714348.1",
"protein_id": "ENSP00000519619.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 477,
"cds_start": 1199,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714348.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1121T>G",
"hgvs_p": "p.Leu374Arg",
"transcript": "NM_001407416.1",
"protein_id": "NP_001394345.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 451,
"cds_start": 1121,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407416.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Leu370Arg",
"transcript": "NM_001407417.1",
"protein_id": "NP_001394346.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 447,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407417.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1109T>G",
"hgvs_p": "p.Leu370Arg",
"transcript": "ENST00000971225.1",
"protein_id": "ENSP00000641284.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 447,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971225.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1082T>G",
"hgvs_p": "p.Leu361Arg",
"transcript": "NM_001407418.1",
"protein_id": "NP_001394347.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 438,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407418.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1082T>G",
"hgvs_p": "p.Leu361Arg",
"transcript": "NM_001407419.1",
"protein_id": "NP_001394348.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 438,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407419.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1082T>G",
"hgvs_p": "p.Leu361Arg",
"transcript": "NM_001407420.1",
"protein_id": "NP_001394349.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 438,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407420.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1082T>G",
"hgvs_p": "p.Leu361Arg",
"transcript": "NM_001407422.1",
"protein_id": "NP_001394351.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 438,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407422.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1082T>G",
"hgvs_p": "p.Leu361Arg",
"transcript": "ENST00000552573.7",
"protein_id": "ENSP00000447182.3",
"transcript_support_level": 4,
"aa_start": 361,
"aa_end": null,
"aa_length": 438,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552573.7"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1082T>G",
"hgvs_p": "p.Leu361Arg",
"transcript": "ENST00000698941.1",
"protein_id": "ENSP00000514048.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 438,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698941.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1070T>G",
"hgvs_p": "p.Leu357Arg",
"transcript": "NM_001407423.1",
"protein_id": "NP_001394352.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 434,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407423.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1070T>G",
"hgvs_p": "p.Leu357Arg",
"transcript": "NM_001407424.1",
"protein_id": "NP_001394353.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 434,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407424.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1070T>G",
"hgvs_p": "p.Leu357Arg",
"transcript": "NM_001407425.1",
"protein_id": "NP_001394354.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 434,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407425.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1070T>G",
"hgvs_p": "p.Leu357Arg",
"transcript": "NM_001407426.1",
"protein_id": "NP_001394355.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 434,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407426.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1070T>G",
"hgvs_p": "p.Leu357Arg",
"transcript": "NM_001407427.1",
"protein_id": "NP_001394356.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 434,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407427.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1070T>G",
"hgvs_p": "p.Leu357Arg",
"transcript": "NM_001407428.1",
"protein_id": "NP_001394357.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 434,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407428.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1070T>G",
"hgvs_p": "p.Leu357Arg",
"transcript": "NM_001407429.1",
"protein_id": "NP_001394358.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 434,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407429.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1070T>G",
"hgvs_p": "p.Leu357Arg",
"transcript": "NM_001407430.1",
"protein_id": "NP_001394359.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 434,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407430.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1070T>G",
"hgvs_p": "p.Leu357Arg",
"transcript": "NM_001407432.1",
"protein_id": "NP_001394361.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 434,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407432.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1070T>G",
"hgvs_p": "p.Leu357Arg",
"transcript": "NM_001407433.1",
"protein_id": "NP_001394362.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 434,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407433.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1070T>G",
"hgvs_p": "p.Leu357Arg",
"transcript": "NM_001407434.1",
"protein_id": "NP_001394363.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 434,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407434.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1070T>G",
"hgvs_p": "p.Leu357Arg",
"transcript": "ENST00000546584.2",
"protein_id": "ENSP00000447707.3",
"transcript_support_level": 4,
"aa_start": 357,
"aa_end": null,
"aa_length": 434,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546584.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1070T>G",
"hgvs_p": "p.Leu357Arg",
"transcript": "ENST00000547314.6",
"protein_id": "ENSP00000449934.2",
"transcript_support_level": 4,
"aa_start": 357,
"aa_end": null,
"aa_length": 434,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547314.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1070T>G",
"hgvs_p": "p.Leu357Arg",
"transcript": "ENST00000550253.1",
"protein_id": "ENSP00000450052.1",
"transcript_support_level": 2,
"aa_start": 357,
"aa_end": null,
"aa_length": 434,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550253.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1046T>G",
"hgvs_p": "p.Leu349Arg",
"transcript": "NM_001130916.3",
"protein_id": "NP_001124388.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 426,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130916.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1046T>G",
"hgvs_p": "p.Leu349Arg",
"transcript": "NM_001407435.1",
"protein_id": "NP_001394364.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 426,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407435.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1046T>G",
"hgvs_p": "p.Leu349Arg",
"transcript": "ENST00000937285.1",
"protein_id": "ENSP00000607344.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 426,
"cds_start": 1046,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937285.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1031T>G",
"hgvs_p": "p.Leu344Arg",
"transcript": "NM_001407436.1",
"protein_id": "NP_001394365.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 421,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407436.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1031T>G",
"hgvs_p": "p.Leu344Arg",
"transcript": "ENST00000937286.1",
"protein_id": "ENSP00000607345.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 421,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937286.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.839T>G",
"hgvs_p": "p.Leu280Arg",
"transcript": "ENST00000549021.6",
"protein_id": "ENSP00000449028.2",
"transcript_support_level": 2,
"aa_start": 280,
"aa_end": null,
"aa_length": 357,
"cds_start": 839,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549021.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.815T>G",
"hgvs_p": "p.Leu272Arg",
"transcript": "ENST00000937287.1",
"protein_id": "ENSP00000607346.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 349,
"cds_start": 815,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937287.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.800T>G",
"hgvs_p": "p.Leu267Arg",
"transcript": "NM_001407438.1",
"protein_id": "NP_001394367.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 344,
"cds_start": 800,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407438.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.800T>G",
"hgvs_p": "p.Leu267Arg",
"transcript": "ENST00000858563.1",
"protein_id": "ENSP00000528622.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 344,
"cds_start": 800,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858563.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.800T>G",
"hgvs_p": "p.Leu267Arg",
"transcript": "ENST00000937288.1",
"protein_id": "ENSP00000607347.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 344,
"cds_start": 800,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937288.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.569T>G",
"hgvs_p": "p.Leu190Arg",
"transcript": "NM_001407437.1",
"protein_id": "NP_001394366.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 267,
"cds_start": 569,
"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": "NM_001407437.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.569T>G",
"hgvs_p": "p.Leu190Arg",
"transcript": "ENST00000858564.1",
"protein_id": "ENSP00000528623.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 267,
"cds_start": 569,
"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": "ENST00000858564.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "c.1082T>G",
"hgvs_p": "p.Leu361Arg",
"transcript": "XM_011518948.3",
"protein_id": "XP_011517250.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 438,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518948.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "n.*199T>G",
"hgvs_p": null,
"transcript": "ENST00000548365.6",
"protein_id": "ENSP00000448518.2",
"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": "ENST00000548365.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "n.*12T>G",
"hgvs_p": null,
"transcript": "ENST00000549766.5",
"protein_id": "ENSP00000446685.1",
"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": "ENST00000549766.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "n.*1073T>G",
"hgvs_p": null,
"transcript": "ENST00000698942.1",
"protein_id": "ENSP00000514049.1",
"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": "ENST00000698942.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "n.844T>G",
"hgvs_p": null,
"transcript": "ENST00000698943.1",
"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": "ENST00000698943.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "n.*1232T>G",
"hgvs_p": null,
"transcript": "ENST00000714346.1",
"protein_id": "ENSP00000519617.1",
"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": "ENST00000714346.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "n.*1187T>G",
"hgvs_p": null,
"transcript": "ENST00000714347.1",
"protein_id": "ENSP00000519618.1",
"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": "ENST00000714347.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "n.*1068T>G",
"hgvs_p": null,
"transcript": "ENST00000714349.1",
"protein_id": "ENSP00000519620.1",
"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": "ENST00000714349.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "n.*1328T>G",
"hgvs_p": null,
"transcript": "ENST00000714350.1",
"protein_id": "ENSP00000519621.1",
"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": "ENST00000714350.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "n.*1056T>G",
"hgvs_p": null,
"transcript": "ENST00000714351.1",
"protein_id": "ENSP00000519622.1",
"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": "ENST00000714351.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "n.1381T>G",
"hgvs_p": null,
"transcript": "NR_176360.1",
"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": "pseudogene",
"feature": "NR_176360.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "n.1486T>G",
"hgvs_p": null,
"transcript": "NR_176361.1",
"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": "pseudogene",
"feature": "NR_176361.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "n.1257T>G",
"hgvs_p": null,
"transcript": "NR_176362.1",
"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": "pseudogene",
"feature": "NR_176362.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "n.1245T>G",
"hgvs_p": null,
"transcript": "NR_176363.1",
"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": "pseudogene",
"feature": "NR_176363.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "n.*199T>G",
"hgvs_p": null,
"transcript": "ENST00000548365.6",
"protein_id": "ENSP00000448518.2",
"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": "ENST00000548365.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "n.*12T>G",
"hgvs_p": null,
"transcript": "ENST00000549766.5",
"protein_id": "ENSP00000446685.1",
"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": "ENST00000549766.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "n.*1073T>G",
"hgvs_p": null,
"transcript": "ENST00000698942.1",
"protein_id": "ENSP00000514049.1",
"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": "ENST00000698942.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "n.*1232T>G",
"hgvs_p": null,
"transcript": "ENST00000714346.1",
"protein_id": "ENSP00000519617.1",
"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": "ENST00000714346.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "n.*1187T>G",
"hgvs_p": null,
"transcript": "ENST00000714347.1",
"protein_id": "ENSP00000519618.1",
"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": "ENST00000714347.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "n.*1068T>G",
"hgvs_p": null,
"transcript": "ENST00000714349.1",
"protein_id": "ENSP00000519620.1",
"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": "ENST00000714349.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "n.*1328T>G",
"hgvs_p": null,
"transcript": "ENST00000714350.1",
"protein_id": "ENSP00000519621.1",
"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": "ENST00000714350.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"hgvs_c": "n.*1056T>G",
"hgvs_p": null,
"transcript": "ENST00000714351.1",
"protein_id": "ENSP00000519622.1",
"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": "ENST00000714351.1"
}
],
"gene_symbol": "TGFBR1",
"gene_hgnc_id": 11772,
"dbsnp": "rs756570466",
"frequency_reference_population": 6.843606e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84361e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9292144775390625,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.961,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9707,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.49,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001306210.2",
"gene_symbol": "TGFBR1",
"hgnc_id": 11772,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1289T>G",
"hgvs_p": "p.Leu430Arg"
}
],
"clinvar_disease": "Familial thoracic aortic aneurysm and aortic dissection",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Familial thoracic aortic aneurysm and aortic dissection",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}