← 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: 1-161171045-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161171045&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161171045,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000367999.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Gln435*",
"transcript": "NM_001122764.3",
"protein_id": "NP_001116236.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 477,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": "ENST00000367999.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Gln435*",
"transcript": "ENST00000367999.9",
"protein_id": "ENSP00000356978.4",
"transcript_support_level": 1,
"aa_start": 435,
"aa_end": null,
"aa_length": 477,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1558,
"cdna_end": null,
"cdna_length": 1733,
"mane_select": "NM_001122764.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Gln435*",
"transcript": "ENST00000352210.9",
"protein_id": "ENSP00000343943.5",
"transcript_support_level": 1,
"aa_start": 435,
"aa_end": null,
"aa_length": 477,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1513,
"cdna_end": null,
"cdna_length": 1686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Gln435*",
"transcript": "NM_000309.5",
"protein_id": "NP_000300.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 477,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1497,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Gln435*",
"transcript": "NM_001365398.1",
"protein_id": "NP_001352327.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 477,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1413,
"cdna_end": null,
"cdna_length": 1588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1204C>T",
"hgvs_p": "p.Gln402*",
"transcript": "NM_001350128.2",
"protein_id": "NP_001337057.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 444,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1459,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.Gln398*",
"transcript": "NM_001365399.1",
"protein_id": "NP_001352328.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 440,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1447,
"cdna_end": null,
"cdna_length": 1622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.Gln398*",
"transcript": "ENST00000652182.1",
"protein_id": "ENSP00000498884.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 434,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1307,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 1526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1006C>T",
"hgvs_p": "p.Gln336*",
"transcript": "ENST00000652103.1",
"protein_id": "ENSP00000498501.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 378,
"cds_start": 1006,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 1176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Gln299*",
"transcript": "NM_001350129.2",
"protein_id": "NP_001337058.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 341,
"cds_start": 895,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1577,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Gln299*",
"transcript": "NM_001365400.1",
"protein_id": "NP_001352329.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 341,
"cds_start": 895,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Gln273*",
"transcript": "NM_001350130.2",
"protein_id": "NP_001337059.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 315,
"cds_start": 817,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1590,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Gln273*",
"transcript": "NM_001350131.2",
"protein_id": "NP_001337060.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 315,
"cds_start": 817,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.817C>T",
"hgvs_p": "p.Gln273*",
"transcript": "NM_001365401.1",
"protein_id": "NP_001352330.1",
"transcript_support_level": null,
"aa_start": 273,
"aa_end": null,
"aa_length": 315,
"cds_start": 817,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1381,
"cdna_end": null,
"cdna_length": 1556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.559C>T",
"hgvs_p": "p.Gln187*",
"transcript": "ENST00000537523.5",
"protein_id": "ENSP00000439544.1",
"transcript_support_level": 3,
"aa_start": 187,
"aa_end": null,
"aa_length": 229,
"cds_start": 559,
"cds_end": null,
"cds_length": 690,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.427C>T",
"hgvs_p": "p.Gln143*",
"transcript": "ENST00000544598.5",
"protein_id": "ENSP00000444216.1",
"transcript_support_level": 2,
"aa_start": 143,
"aa_end": null,
"aa_length": 185,
"cds_start": 427,
"cds_end": null,
"cds_length": 558,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Gln98*",
"transcript": "ENST00000462866.5",
"protein_id": "ENSP00000491797.1",
"transcript_support_level": 5,
"aa_start": 98,
"aa_end": null,
"aa_length": 140,
"cds_start": 292,
"cds_end": null,
"cds_length": 423,
"cdna_start": 300,
"cdna_end": null,
"cdna_length": 473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Gln473*",
"transcript": "XM_011509671.2",
"protein_id": "XP_011507973.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 515,
"cds_start": 1417,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 1794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1318C>T",
"hgvs_p": "p.Gln440*",
"transcript": "XM_006711404.5",
"protein_id": "XP_006711467.3",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 482,
"cds_start": 1318,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 1521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1204C>T",
"hgvs_p": "p.Gln402*",
"transcript": "XM_011509672.4",
"protein_id": "XP_011507974.2",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 444,
"cds_start": 1204,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1234,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1054C>T",
"hgvs_p": "p.Gln352*",
"transcript": "XM_024447864.2",
"protein_id": "XP_024303632.2",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 394,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 1257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Gln299*",
"transcript": "XM_017001566.3",
"protein_id": "XP_016857055.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 341,
"cds_start": 895,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 1398,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "n.648C>T",
"hgvs_p": null,
"transcript": "ENST00000466452.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 784,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "n.1057C>T",
"hgvs_p": null,
"transcript": "ENST00000541818.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1193,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "n.*894C>T",
"hgvs_p": null,
"transcript": "ENST00000650741.1",
"protein_id": "ENSP00000499106.1",
"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": 1168,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "n.*1060C>T",
"hgvs_p": null,
"transcript": "ENST00000651150.1",
"protein_id": "ENSP00000498615.1",
"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": 1638,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "n.*259C>T",
"hgvs_p": null,
"transcript": "ENST00000652100.1",
"protein_id": "ENSP00000498462.1",
"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": 481,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "n.*603C>T",
"hgvs_p": null,
"transcript": "ENST00000652297.1",
"protein_id": "ENSP00000498871.1",
"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": 1076,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "n.*845C>T",
"hgvs_p": null,
"transcript": "ENST00000652473.1",
"protein_id": "ENSP00000498477.1",
"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": 1667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.*70C>T",
"hgvs_p": null,
"transcript": "ENST00000537829.1",
"protein_id": "ENSP00000438136.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 160,
"cds_start": -4,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 728,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "n.*894C>T",
"hgvs_p": null,
"transcript": "ENST00000650741.1",
"protein_id": "ENSP00000499106.1",
"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": 1168,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "n.*1060C>T",
"hgvs_p": null,
"transcript": "ENST00000651150.1",
"protein_id": "ENSP00000498615.1",
"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": 1638,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "n.*259C>T",
"hgvs_p": null,
"transcript": "ENST00000652100.1",
"protein_id": "ENSP00000498462.1",
"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": 481,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "n.*603C>T",
"hgvs_p": null,
"transcript": "ENST00000652297.1",
"protein_id": "ENSP00000498871.1",
"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": 1076,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "n.*845C>T",
"hgvs_p": null,
"transcript": "ENST00000652473.1",
"protein_id": "ENSP00000498477.1",
"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": 1667,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.372+276C>T",
"hgvs_p": null,
"transcript": "ENST00000497522.5",
"protein_id": "ENSP00000491230.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 187,
"cds_start": -4,
"cds_end": null,
"cds_length": 565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 816,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.237+276C>T",
"hgvs_p": null,
"transcript": "ENST00000535223.5",
"protein_id": "ENSP00000443769.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 156,
"cds_start": -4,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "n.*929+276C>T",
"hgvs_p": null,
"transcript": "ENST00000495483.5",
"protein_id": "ENSP00000490967.1",
"transcript_support_level": 2,
"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": 2471,
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1377+276C>T",
"hgvs_p": null,
"transcript": "XM_011509663.3",
"protein_id": "XP_011507965.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 567,
"cds_start": -4,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2367,
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1362+276C>T",
"hgvs_p": null,
"transcript": "XM_011509664.2",
"protein_id": "XP_011507966.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 562,
"cds_start": -4,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2351,
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1377+276C>T",
"hgvs_p": null,
"transcript": "XM_011509665.3",
"protein_id": "XP_011507967.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 536,
"cds_start": -4,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2754,
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1362+276C>T",
"hgvs_p": null,
"transcript": "XM_047423569.1",
"protein_id": "XP_047279525.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 531,
"cds_start": -4,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2737,
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1263+276C>T",
"hgvs_p": null,
"transcript": "XM_011509667.3",
"protein_id": "XP_011507969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": -4,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2295,
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1263+276C>T",
"hgvs_p": null,
"transcript": "XM_011509668.3",
"protein_id": "XP_011507970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": -4,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2150,
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1263+276C>T",
"hgvs_p": null,
"transcript": "XM_011509670.3",
"protein_id": "XP_011507972.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": -4,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2256,
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1263+276C>T",
"hgvs_p": null,
"transcript": "XM_047423581.1",
"protein_id": "XP_047279537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 529,
"cds_start": -4,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2134,
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1248+276C>T",
"hgvs_p": null,
"transcript": "XM_005245291.5",
"protein_id": "XP_005245348.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": -4,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2280,
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1113+276C>T",
"hgvs_p": null,
"transcript": "XM_011509673.3",
"protein_id": "XP_011507975.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2105,
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.1086+276C>T",
"hgvs_p": null,
"transcript": "XM_011509674.3",
"protein_id": "XP_011507976.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": -4,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2083,
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.840+276C>T",
"hgvs_p": null,
"transcript": "XM_005245295.4",
"protein_id": "XP_005245352.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1810,
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.840+276C>T",
"hgvs_p": null,
"transcript": "XM_011509678.2",
"protein_id": "XP_011507980.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1945,
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.840+276C>T",
"hgvs_p": null,
"transcript": "XM_047423592.1",
"protein_id": "XP_047279548.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2115,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "c.546+276C>T",
"hgvs_p": null,
"transcript": "XM_047423604.1",
"protein_id": "XP_047279560.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": -4,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"hgvs_c": "n.*341C>T",
"hgvs_p": null,
"transcript": "ENST00000539753.5",
"protein_id": "ENSP00000439613.1",
"transcript_support_level": 5,
"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": 816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PPOX",
"gene_hgnc_id": 9280,
"dbsnp": "rs754313121",
"frequency_reference_population": 0.000013630021,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.000013681,
"gnomad_genomes_af": 0.0000131403,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2800000011920929,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.027,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000367999.9",
"gene_symbol": "PPOX",
"hgnc_id": 9280,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Gln435*"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}