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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: 16-14584383-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=14584383&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 14584383,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000437198.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349Trp",
"transcript": "NM_002582.4",
"protein_id": "NP_002573.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 639,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": "ENST00000437198.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349Trp",
"transcript": "ENST00000437198.7",
"protein_id": "ENSP00000387911.2",
"transcript_support_level": 1,
"aa_start": 349,
"aa_end": null,
"aa_length": 639,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": "NM_002582.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374Trp",
"transcript": "ENST00000650990.1",
"protein_id": "ENSP00000498741.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 664,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 2884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349Trp",
"transcript": "ENST00000697474.1",
"protein_id": "ENSP00000513329.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 659,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 3863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.970C>T",
"hgvs_p": "p.Arg324Trp",
"transcript": "ENST00000651865.1",
"protein_id": "ENSP00000498567.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 614,
"cds_start": 970,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1105,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.907C>T",
"hgvs_p": "p.Arg303Trp",
"transcript": "NM_001242992.2",
"protein_id": "NP_001229921.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 593,
"cds_start": 907,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.907C>T",
"hgvs_p": "p.Arg303Trp",
"transcript": "ENST00000420015.6",
"protein_id": "ENSP00000410525.2",
"transcript_support_level": 2,
"aa_start": 303,
"aa_end": null,
"aa_length": 593,
"cds_start": 907,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349Trp",
"transcript": "ENST00000650960.1",
"protein_id": "ENSP00000499110.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 590,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 3075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349Trp",
"transcript": "ENST00000651049.1",
"protein_id": "ENSP00000498644.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 585,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 1128,
"cdna_end": null,
"cdna_length": 2879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.958C>T",
"hgvs_p": "p.Arg320Trp",
"transcript": "ENST00000652727.1",
"protein_id": "ENSP00000498650.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 581,
"cds_start": 958,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1044,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.862C>T",
"hgvs_p": "p.Arg288Trp",
"transcript": "NM_001134477.3",
"protein_id": "NP_001127949.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 578,
"cds_start": 862,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.862C>T",
"hgvs_p": "p.Arg288Trp",
"transcript": "ENST00000341484.11",
"protein_id": "ENSP00000345456.7",
"transcript_support_level": 2,
"aa_start": 288,
"aa_end": null,
"aa_length": 578,
"cds_start": 862,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349Trp",
"transcript": "ENST00000651634.1",
"protein_id": "ENSP00000499078.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 577,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 2319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349Trp",
"transcript": "ENST00000651027.1",
"protein_id": "ENSP00000498640.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 524,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1575,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 1740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349Trp",
"transcript": "ENST00000652501.1",
"protein_id": "ENSP00000498261.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 499,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1133,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Arg331Trp",
"transcript": "ENST00000651913.1",
"protein_id": "ENSP00000498230.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 486,
"cds_start": 991,
"cds_end": null,
"cds_length": 1462,
"cdna_start": 992,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.520C>T",
"hgvs_p": "p.Arg174Trp",
"transcript": "ENST00000539279.5",
"protein_id": "ENSP00000444381.1",
"transcript_support_level": 2,
"aa_start": 174,
"aa_end": null,
"aa_length": 464,
"cds_start": 520,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.508C>T",
"hgvs_p": "p.Arg170Trp",
"transcript": "ENST00000569444.5",
"protein_id": "ENSP00000456279.1",
"transcript_support_level": 3,
"aa_start": 170,
"aa_end": null,
"aa_length": 259,
"cds_start": 508,
"cds_end": null,
"cds_length": 781,
"cdna_start": 510,
"cdna_end": null,
"cdna_length": 783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349Trp",
"transcript": "XM_047434181.1",
"protein_id": "XP_047290137.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 590,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 1920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349Trp",
"transcript": "XM_047434182.1",
"protein_id": "XP_047290138.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 590,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 1924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.862C>T",
"hgvs_p": "p.Arg288Trp",
"transcript": "XM_047434183.1",
"protein_id": "XP_047290139.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 529,
"cds_start": 862,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.862C>T",
"hgvs_p": "p.Arg288Trp",
"transcript": "XM_047434184.1",
"protein_id": "XP_047290140.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 529,
"cds_start": 862,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 1837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349Trp",
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 3912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "n.*779C>T",
"hgvs_p": null,
"transcript": "ENST00000652541.1",
"protein_id": "ENSP00000499206.1",
"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": 2870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.*68C>T",
"hgvs_p": null,
"transcript": "XM_047434185.1",
"protein_id": "XP_047290141.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 310,
"cds_start": -4,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"dbsnp": "rs754368658",
"frequency_reference_population": 0.000011779951,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000116373,
"gnomad_genomes_af": 0.0000131503,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7013769745826721,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.124,
"revel_prediction": "Benign",
"alphamissense_score": 0.2128,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.475,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP5",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000437198.7",
"gene_symbol": "PARN",
"hgnc_id": 8609,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349Trp"
}
],
"clinvar_disease": " 4, Telomere-related, autosomal recessive 6,Dyskeratosis congenita,Pulmonary fibrosis and/or bone marrow failure,Telomere syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Dyskeratosis congenita, autosomal recessive 6|Telomere syndrome|Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}