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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: 3-30672189-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=30672189&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 30672189,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000295754.10",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1006T>A",
"hgvs_p": "p.Tyr336Asn",
"transcript": "NM_003242.6",
"protein_id": "NP_003233.4",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 567,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1289,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": "ENST00000295754.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1006T>A",
"hgvs_p": "p.Tyr336Asn",
"transcript": "ENST00000295754.10",
"protein_id": "ENSP00000295754.5",
"transcript_support_level": 1,
"aa_start": 336,
"aa_end": null,
"aa_length": 567,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1289,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": "NM_003242.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1081T>A",
"hgvs_p": "p.Tyr361Asn",
"transcript": "ENST00000359013.4",
"protein_id": "ENSP00000351905.4",
"transcript_support_level": 1,
"aa_start": 361,
"aa_end": null,
"aa_length": 592,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 4605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1189T>A",
"hgvs_p": "p.Tyr397Asn",
"transcript": "NM_001407126.1",
"protein_id": "NP_001394055.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 628,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 4713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1114T>A",
"hgvs_p": "p.Tyr372Asn",
"transcript": "NM_001407127.1",
"protein_id": "NP_001394056.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 603,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 4638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1081T>A",
"hgvs_p": "p.Tyr361Asn",
"transcript": "NM_001024847.3",
"protein_id": "NP_001020018.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 592,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 4605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1033T>A",
"hgvs_p": "p.Tyr345Asn",
"transcript": "NM_001407128.1",
"protein_id": "NP_001394057.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 576,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 4799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1009T>A",
"hgvs_p": "p.Tyr337Asn",
"transcript": "NM_001407129.1",
"protein_id": "NP_001394058.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 568,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 4499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.1006T>A",
"hgvs_p": "p.Tyr336Asn",
"transcript": "NM_001407130.1",
"protein_id": "NP_001394059.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 566,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1289,
"cdna_end": null,
"cdna_length": 4527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.979T>A",
"hgvs_p": "p.Tyr327Asn",
"transcript": "ENST00000714391.1",
"protein_id": "ENSP00000519658.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 558,
"cds_start": 979,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 4291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.901T>A",
"hgvs_p": "p.Tyr301Asn",
"transcript": "NM_001407132.1",
"protein_id": "NP_001394061.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 532,
"cds_start": 901,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1150,
"cdna_end": null,
"cdna_length": 4391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.901T>A",
"hgvs_p": "p.Tyr301Asn",
"transcript": "NM_001407133.1",
"protein_id": "NP_001394062.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 532,
"cds_start": 901,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.901T>A",
"hgvs_p": "p.Tyr301Asn",
"transcript": "NM_001407134.1",
"protein_id": "NP_001394063.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 532,
"cds_start": 901,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 4586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.901T>A",
"hgvs_p": "p.Tyr301Asn",
"transcript": "NM_001407135.1",
"protein_id": "NP_001394064.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 901,
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"cdna_start": 1392,
"cdna_end": null,
"cdna_length": 4633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.901T>A",
"hgvs_p": "p.Tyr301Asn",
"transcript": "NM_001407136.1",
"protein_id": "NP_001394065.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 532,
"cds_start": 901,
"cds_end": null,
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"cdna_start": 1477,
"cdna_end": null,
"cdna_length": 4718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.901T>A",
"hgvs_p": "p.Tyr301Asn",
"transcript": "ENST00000714389.1",
"protein_id": "ENSP00000519656.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
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"cds_start": 901,
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"cdna_start": 1023,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.901T>A",
"hgvs_p": "p.Tyr301Asn",
"transcript": "ENST00000714390.1",
"protein_id": "ENSP00000519657.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 532,
"cds_start": 901,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 4360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.721T>A",
"hgvs_p": "p.Tyr241Asn",
"transcript": "NM_001407137.1",
"protein_id": "NP_001394066.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 472,
"cds_start": 721,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1004,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.646T>A",
"hgvs_p": "p.Tyr216Asn",
"transcript": "NM_001407138.1",
"protein_id": "NP_001394067.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.958T>A",
"hgvs_p": "p.Tyr320Asn",
"transcript": "XM_047448787.1",
"protein_id": "XP_047304743.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 551,
"cds_start": 958,
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"cdna_start": 8712,
"cdna_end": null,
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"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "n.2602T>A",
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "n.*735T>A",
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "n.*735T>A",
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"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,
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"cdna_length": 4525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
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"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"hgvs_c": "c.530-16198T>A",
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"transcript": "NM_001407139.1",
"protein_id": "NP_001394068.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": -4,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"dbsnp": "rs104893812",
"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": 0.988122820854187,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.887,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8556,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.25,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.233,
"phylop100way_prediction": "Uncertain_significance",
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000295754.10",
"gene_symbol": "TGFBR2",
"hgnc_id": 11773,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1006T>A",
"hgvs_p": "p.Tyr336Asn"
}
],
"clinvar_disease": "Loeys-Dietz syndrome 2",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Loeys-Dietz syndrome 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}