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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: 3-30691538-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=30691538&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 30691538,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001407126.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"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.1643C>T",
"hgvs_p": "p.Ser548Leu",
"transcript": "NM_003242.6",
"protein_id": "NP_003233.4",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 567,
"cds_start": 1643,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000295754.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003242.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1643C>T",
"hgvs_p": "p.Ser548Leu",
"transcript": "ENST00000295754.10",
"protein_id": "ENSP00000295754.5",
"transcript_support_level": 1,
"aa_start": 548,
"aa_end": null,
"aa_length": 567,
"cds_start": 1643,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003242.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000295754.10"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1718C>T",
"hgvs_p": "p.Ser573Leu",
"transcript": "ENST00000359013.4",
"protein_id": "ENSP00000351905.4",
"transcript_support_level": 1,
"aa_start": 573,
"aa_end": null,
"aa_length": 592,
"cds_start": 1718,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359013.4"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1826C>T",
"hgvs_p": "p.Ser609Leu",
"transcript": "NM_001407126.1",
"protein_id": "NP_001394055.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 628,
"cds_start": 1826,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407126.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1751C>T",
"hgvs_p": "p.Ser584Leu",
"transcript": "NM_001407127.1",
"protein_id": "NP_001394056.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 603,
"cds_start": 1751,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407127.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1718C>T",
"hgvs_p": "p.Ser573Leu",
"transcript": "NM_001024847.3",
"protein_id": "NP_001020018.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 592,
"cds_start": 1718,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001024847.3"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1673C>T",
"hgvs_p": "p.Ser558Leu",
"transcript": "ENST00000941789.1",
"protein_id": "ENSP00000611848.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 577,
"cds_start": 1673,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941789.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1670C>T",
"hgvs_p": "p.Ser557Leu",
"transcript": "NM_001407128.1",
"protein_id": "NP_001394057.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 576,
"cds_start": 1670,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407128.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1646C>T",
"hgvs_p": "p.Ser549Leu",
"transcript": "NM_001407129.1",
"protein_id": "NP_001394058.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 568,
"cds_start": 1646,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407129.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1640C>T",
"hgvs_p": "p.Ser547Leu",
"transcript": "NM_001407130.1",
"protein_id": "NP_001394059.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 566,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407130.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1640C>T",
"hgvs_p": "p.Ser547Leu",
"transcript": "ENST00000941788.1",
"protein_id": "ENSP00000611847.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 566,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941788.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1616C>T",
"hgvs_p": "p.Ser539Leu",
"transcript": "ENST00000714391.1",
"protein_id": "ENSP00000519658.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 558,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714391.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1538C>T",
"hgvs_p": "p.Ser513Leu",
"transcript": "NM_001407132.1",
"protein_id": "NP_001394061.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 532,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407132.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1538C>T",
"hgvs_p": "p.Ser513Leu",
"transcript": "NM_001407133.1",
"protein_id": "NP_001394062.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 532,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407133.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1538C>T",
"hgvs_p": "p.Ser513Leu",
"transcript": "NM_001407134.1",
"protein_id": "NP_001394063.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 532,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407134.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1538C>T",
"hgvs_p": "p.Ser513Leu",
"transcript": "NM_001407135.1",
"protein_id": "NP_001394064.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 532,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407135.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1538C>T",
"hgvs_p": "p.Ser513Leu",
"transcript": "NM_001407136.1",
"protein_id": "NP_001394065.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 532,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407136.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1538C>T",
"hgvs_p": "p.Ser513Leu",
"transcript": "ENST00000714389.1",
"protein_id": "ENSP00000519656.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 532,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714389.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1538C>T",
"hgvs_p": "p.Ser513Leu",
"transcript": "ENST00000714390.1",
"protein_id": "ENSP00000519657.1",
"transcript_support_level": null,
"aa_start": 513,
"aa_end": null,
"aa_length": 532,
"cds_start": 1538,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714390.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1358C>T",
"hgvs_p": "p.Ser453Leu",
"transcript": "NM_001407137.1",
"protein_id": "NP_001394066.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 472,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407137.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1283C>T",
"hgvs_p": "p.Ser428Leu",
"transcript": "NM_001407138.1",
"protein_id": "NP_001394067.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 447,
"cds_start": 1283,
"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_001407138.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"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.1283C>T",
"hgvs_p": "p.Ser428Leu",
"transcript": "ENST00000894724.1",
"protein_id": "ENSP00000564783.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 447,
"cds_start": 1283,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
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"cdna_length": null,
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{
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{
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],
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{
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{
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{
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"biotype": "nonsense_mediated_decay",
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{
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"strand": true,
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"3_prime_UTR_variant"
],
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"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000714392.1"
}
],
"gene_symbol": "TGFBR2",
"gene_hgnc_id": 11773,
"dbsnp": "rs755070814",
"frequency_reference_population": 0.000011152776,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.000010945,
"gnomad_genomes_af": 0.0000131501,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41119450330734253,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.427,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1268,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.081,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP2,BP4,BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 5,
"pathogenic_score": 1,
"criteria": [
"PP2",
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001407126.1",
"gene_symbol": "TGFBR2",
"hgnc_id": 11773,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1826C>T",
"hgvs_p": "p.Ser609Leu"
}
],
"clinvar_disease": " hereditary nonpolyposis, type 6,Colorectal cancer,Familial thoracic aortic aneurysm and aortic dissection,Loeys-Dietz syndrome 2,Malignant tumor of esophagus,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:7",
"phenotype_combined": "Familial thoracic aortic aneurysm and aortic dissection|not specified|Malignant tumor of esophagus;Loeys-Dietz syndrome 2;Colorectal cancer, hereditary nonpolyposis, type 6|not provided|Loeys-Dietz syndrome 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}