← 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: 3-30691465-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=30691465&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 30691465,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001407126.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1570G>C",
"hgvs_p": "p.Asp524His",
"transcript": "NM_003242.6",
"protein_id": "NP_003233.4",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 567,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": "ENST00000295754.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003242.6"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1570G>C",
"hgvs_p": "p.Asp524His",
"transcript": "ENST00000295754.10",
"protein_id": "ENSP00000295754.5",
"transcript_support_level": 1,
"aa_start": 524,
"aa_end": null,
"aa_length": 567,
"cds_start": 1570,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1853,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": "NM_003242.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295754.10"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1645G>C",
"hgvs_p": "p.Asp549His",
"transcript": "ENST00000359013.4",
"protein_id": "ENSP00000351905.4",
"transcript_support_level": 1,
"aa_start": 549,
"aa_end": null,
"aa_length": 592,
"cds_start": 1645,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 4605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359013.4"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1753G>C",
"hgvs_p": "p.Asp585His",
"transcript": "NM_001407126.1",
"protein_id": "NP_001394055.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 628,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 4713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407126.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1678G>C",
"hgvs_p": "p.Asp560His",
"transcript": "NM_001407127.1",
"protein_id": "NP_001394056.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 603,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1961,
"cdna_end": null,
"cdna_length": 4638,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407127.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1645G>C",
"hgvs_p": "p.Asp549His",
"transcript": "NM_001024847.3",
"protein_id": "NP_001020018.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 592,
"cds_start": 1645,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 4605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024847.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1600G>C",
"hgvs_p": "p.Asp534His",
"transcript": "ENST00000941789.1",
"protein_id": "ENSP00000611848.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 577,
"cds_start": 1600,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1898,
"cdna_end": null,
"cdna_length": 2938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941789.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1597G>C",
"hgvs_p": "p.Asp533His",
"transcript": "NM_001407128.1",
"protein_id": "NP_001394057.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 576,
"cds_start": 1597,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407128.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1573G>C",
"hgvs_p": "p.Asp525His",
"transcript": "NM_001407129.1",
"protein_id": "NP_001394058.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 568,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1822,
"cdna_end": null,
"cdna_length": 4499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407129.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1567G>C",
"hgvs_p": "p.Asp523His",
"transcript": "NM_001407130.1",
"protein_id": "NP_001394059.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 566,
"cds_start": 1567,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 4527,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407130.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1567G>C",
"hgvs_p": "p.Asp523His",
"transcript": "ENST00000941788.1",
"protein_id": "ENSP00000611847.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 566,
"cds_start": 1567,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1866,
"cdna_end": null,
"cdna_length": 4509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941788.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1543G>C",
"hgvs_p": "p.Asp515His",
"transcript": "ENST00000714391.1",
"protein_id": "ENSP00000519658.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 558,
"cds_start": 1543,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 4291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714391.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1465G>C",
"hgvs_p": "p.Asp489His",
"transcript": "NM_001407132.1",
"protein_id": "NP_001394061.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 532,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1714,
"cdna_end": null,
"cdna_length": 4391,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407132.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1465G>C",
"hgvs_p": "p.Asp489His",
"transcript": "NM_001407133.1",
"protein_id": "NP_001394062.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 532,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2031,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407133.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1465G>C",
"hgvs_p": "p.Asp489His",
"transcript": "NM_001407134.1",
"protein_id": "NP_001394063.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 532,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1909,
"cdna_end": null,
"cdna_length": 4586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407134.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1465G>C",
"hgvs_p": "p.Asp489His",
"transcript": "NM_001407135.1",
"protein_id": "NP_001394064.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 532,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1956,
"cdna_end": null,
"cdna_length": 4633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407135.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1465G>C",
"hgvs_p": "p.Asp489His",
"transcript": "NM_001407136.1",
"protein_id": "NP_001394065.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 532,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2041,
"cdna_end": null,
"cdna_length": 4718,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407136.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1465G>C",
"hgvs_p": "p.Asp489His",
"transcript": "ENST00000714389.1",
"protein_id": "ENSP00000519656.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 532,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1587,
"cdna_end": null,
"cdna_length": 4261,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714389.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1465G>C",
"hgvs_p": "p.Asp489His",
"transcript": "ENST00000714390.1",
"protein_id": "ENSP00000519657.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 532,
"cds_start": 1465,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1576,
"cdna_end": null,
"cdna_length": 4360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714390.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1285G>C",
"hgvs_p": "p.Asp429His",
"transcript": "NM_001407137.1",
"protein_id": "NP_001394066.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 472,
"cds_start": 1285,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1568,
"cdna_end": null,
"cdna_length": 4245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407137.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1210G>C",
"hgvs_p": "p.Asp404His",
"transcript": "NM_001407138.1",
"protein_id": "NP_001394067.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 447,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407138.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1210G>C",
"hgvs_p": "p.Asp404His",
"transcript": "ENST00000894724.1",
"protein_id": "ENSP00000564783.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 447,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1452,
"cdna_end": null,
"cdna_length": 2454,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894724.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.700G>C",
"hgvs_p": "p.Asp234His",
"transcript": "NM_001407139.1",
"protein_id": "NP_001394068.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 277,
"cds_start": 700,
"cds_end": null,
"cds_length": 834,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407139.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1522G>C",
"hgvs_p": "p.Asp508His",
"transcript": "XM_047448787.1",
"protein_id": "XP_047304743.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 551,
"cds_start": 1522,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 9276,
"cdna_end": null,
"cdna_length": 11953,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448787.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "n.454G>C",
"hgvs_p": null,
"transcript": "ENST00000672050.1",
"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": 915,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000672050.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "n.3166G>C",
"hgvs_p": null,
"transcript": "ENST00000672866.1",
"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": 5794,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000672866.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "n.448G>C",
"hgvs_p": null,
"transcript": "ENST00000673203.1",
"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": 2803,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000673203.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "n.*1299G>C",
"hgvs_p": null,
"transcript": "ENST00000714392.1",
"protein_id": "ENSP00000519659.1",
"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": 4525,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000714392.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "n.*1299G>C",
"hgvs_p": null,
"transcript": "ENST00000714392.1",
"protein_id": "ENSP00000519659.1",
"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": 4525,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000714392.1"
}
],
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"dbsnp": "rs727504421",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9628415107727051,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.937,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9723,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.54,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_001407126.1",
"gene_symbol": "TGFBR2",
"hgnc_id": 11773,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1753G>C",
"hgvs_p": "p.Asp585His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}