← 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: 3-30691490-A-AGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=30691490&ref=A&alt=AGT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 30691490,
"ref": "A",
"alt": "AGT",
"effect": "frameshift_variant",
"transcript": "ENST00000295754.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1601_1602dupTG",
"hgvs_p": "p.Ala535fs",
"transcript": "NM_003242.6",
"protein_id": "NP_003233.4",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 567,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1886,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": "ENST00000295754.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "W?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1601_1602dupTG",
"hgvs_p": "p.Ala535fs",
"transcript": "ENST00000295754.10",
"protein_id": "ENSP00000295754.5",
"transcript_support_level": 1,
"aa_start": 535,
"aa_end": null,
"aa_length": 567,
"cds_start": 1603,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1886,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": "NM_003242.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1676_1677dupTG",
"hgvs_p": "p.Ala560fs",
"transcript": "ENST00000359013.4",
"protein_id": "ENSP00000351905.4",
"transcript_support_level": 1,
"aa_start": 560,
"aa_end": null,
"aa_length": 592,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1961,
"cdna_end": null,
"cdna_length": 4605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1784_1785dupTG",
"hgvs_p": "p.Ala596fs",
"transcript": "NM_001407126.1",
"protein_id": "NP_001394055.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 628,
"cds_start": 1786,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 4713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1709_1710dupTG",
"hgvs_p": "p.Ala571fs",
"transcript": "NM_001407127.1",
"protein_id": "NP_001394056.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 603,
"cds_start": 1711,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 4638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1676_1677dupTG",
"hgvs_p": "p.Ala560fs",
"transcript": "NM_001024847.3",
"protein_id": "NP_001020018.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 592,
"cds_start": 1678,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1961,
"cdna_end": null,
"cdna_length": 4605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1628_1629dupTG",
"hgvs_p": "p.Ala544fs",
"transcript": "NM_001407128.1",
"protein_id": "NP_001394057.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 576,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 2155,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1604_1605dupTG",
"hgvs_p": "p.Ala536fs",
"transcript": "NM_001407129.1",
"protein_id": "NP_001394058.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 568,
"cds_start": 1606,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1855,
"cdna_end": null,
"cdna_length": 4499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1598_1599dupTG",
"hgvs_p": "p.Ala534fs",
"transcript": "NM_001407130.1",
"protein_id": "NP_001394059.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 566,
"cds_start": 1600,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 4527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1574_1575dupTG",
"hgvs_p": "p.Ala526fs",
"transcript": "ENST00000714391.1",
"protein_id": "ENSP00000519658.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 558,
"cds_start": 1576,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1683,
"cdna_end": null,
"cdna_length": 4291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1496_1497dupTG",
"hgvs_p": "p.Ala500fs",
"transcript": "NM_001407132.1",
"protein_id": "NP_001394061.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 532,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 4391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1496_1497dupTG",
"hgvs_p": "p.Ala500fs",
"transcript": "NM_001407133.1",
"protein_id": "NP_001394062.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 532,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1496_1497dupTG",
"hgvs_p": "p.Ala500fs",
"transcript": "NM_001407134.1",
"protein_id": "NP_001394063.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 532,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1942,
"cdna_end": null,
"cdna_length": 4586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1496_1497dupTG",
"hgvs_p": "p.Ala500fs",
"transcript": "NM_001407135.1",
"protein_id": "NP_001394064.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 532,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1989,
"cdna_end": null,
"cdna_length": 4633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1496_1497dupTG",
"hgvs_p": "p.Ala500fs",
"transcript": "NM_001407136.1",
"protein_id": "NP_001394065.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 532,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 4718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1496_1497dupTG",
"hgvs_p": "p.Ala500fs",
"transcript": "ENST00000714389.1",
"protein_id": "ENSP00000519656.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 532,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1620,
"cdna_end": null,
"cdna_length": 4261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1496_1497dupTG",
"hgvs_p": "p.Ala500fs",
"transcript": "ENST00000714390.1",
"protein_id": "ENSP00000519657.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 532,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1609,
"cdna_end": null,
"cdna_length": 4360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1316_1317dupTG",
"hgvs_p": "p.Ala440fs",
"transcript": "NM_001407137.1",
"protein_id": "NP_001394066.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 472,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1601,
"cdna_end": null,
"cdna_length": 4245,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1241_1242dupTG",
"hgvs_p": "p.Ala415fs",
"transcript": "NM_001407138.1",
"protein_id": "NP_001394067.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 447,
"cds_start": 1243,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1526,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.731_732dupTG",
"hgvs_p": "p.Ala245fs",
"transcript": "NM_001407139.1",
"protein_id": "NP_001394068.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 277,
"cds_start": 733,
"cds_end": null,
"cds_length": 834,
"cdna_start": 1016,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "W?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1553_1554dupTG",
"hgvs_p": "p.Ala519fs",
"transcript": "XM_047448787.1",
"protein_id": "XP_047304743.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 551,
"cds_start": 1555,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 9309,
"cdna_end": null,
"cdna_length": 11953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.485_486dupTG",
"hgvs_p": null,
"transcript": "ENST00000672050.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 915,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.3197_3198dupTG",
"hgvs_p": null,
"transcript": "ENST00000672866.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.479_480dupTG",
"hgvs_p": null,
"transcript": "ENST00000673203.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.*1330_*1331dupTG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.*1330_*1331dupTG",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"dbsnp": "rs587776769",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.169,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PVS1_Strong,PM2,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PVS1_Strong",
"PM2",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000295754.10",
"gene_symbol": "TGFBR2",
"hgnc_id": 11773,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1601_1602dupTG",
"hgvs_p": "p.Ala535fs"
}
],
"clinvar_disease": " hereditary nonpolyposis, type 6,Colorectal cancer",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Colorectal cancer, hereditary nonpolyposis, type 6",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}