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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: 3-189867905-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=189867905&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 189867905,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000264731.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
"transcript": "NM_003722.5",
"protein_id": "NP_003713.3",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 680,
"cds_start": 955,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 4944,
"mane_select": "ENST00000264731.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
"transcript": "ENST00000264731.8",
"protein_id": "ENSP00000264731.3",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 680,
"cds_start": 955,
"cds_end": null,
"cds_length": 2043,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 4944,
"mane_select": "NM_003722.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Cys",
"transcript": "NM_001114980.2",
"protein_id": "NP_001108452.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 586,
"cds_start": 673,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 4677,
"mane_select": null,
"mane_plus": "ENST00000354600.10",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Cys",
"transcript": "ENST00000354600.10",
"protein_id": "ENSP00000346614.5",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 586,
"cds_start": 673,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 4677,
"mane_select": null,
"mane_plus": "NM_001114980.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
"transcript": "ENST00000440651.6",
"protein_id": "ENSP00000394337.2",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 676,
"cds_start": 955,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 2031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
"transcript": "ENST00000392460.7",
"protein_id": "ENSP00000376253.3",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 555,
"cds_start": 955,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
"transcript": "ENST00000320472.9",
"protein_id": "ENSP00000317510.5",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 510,
"cds_start": 955,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140Cys",
"transcript": "ENST00000449992.5",
"protein_id": "ENSP00000387839.1",
"transcript_support_level": 1,
"aa_start": 140,
"aa_end": null,
"aa_length": 501,
"cds_start": 418,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 418,
"cdna_end": null,
"cdna_length": 1506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
"transcript": "ENST00000418709.6",
"protein_id": "ENSP00000407144.2",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 487,
"cds_start": 955,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 983,
"cdna_end": null,
"cdna_length": 2810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Cys",
"transcript": "ENST00000392463.6",
"protein_id": "ENSP00000376256.2",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 461,
"cds_start": 673,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 1386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Cys",
"transcript": "ENST00000392461.7",
"protein_id": "ENSP00000376254.3",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 416,
"cds_start": 673,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 1251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Cys",
"transcript": "ENST00000437221.5",
"protein_id": "ENSP00000392488.1",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 393,
"cds_start": 673,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 2500,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "n.779C>T",
"hgvs_p": null,
"transcript": "ENST00000460036.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Arg317Cys",
"transcript": "NM_001329964.2",
"protein_id": "NP_001316893.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 678,
"cds_start": 949,
"cds_end": null,
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"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 5248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
"transcript": "NM_001329148.2",
"protein_id": "NP_001316077.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 676,
"cds_start": 955,
"cds_end": null,
"cds_length": 2031,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 4932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Cys",
"transcript": "ENST00000456148.1",
"protein_id": "ENSP00000389485.1",
"transcript_support_level": 5,
"aa_start": 225,
"aa_end": null,
"aa_length": 582,
"cds_start": 673,
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"cds_length": 1749,
"cdna_start": 673,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
"transcript": "NM_001114978.2",
"protein_id": "NP_001108450.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 555,
"cds_start": 955,
"cds_end": null,
"cds_length": 1668,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 4850,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
"transcript": "NM_001329144.2",
"protein_id": "NP_001316073.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 510,
"cds_start": 955,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 4705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140Cys",
"transcript": "NM_001329146.2",
"protein_id": "NP_001316075.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 501,
"cds_start": 418,
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"cdna_start": 560,
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"cdna_length": 4422,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys",
"transcript": "NM_001114979.2",
"protein_id": "NP_001108451.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 487,
"cds_start": 955,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Cys",
"transcript": "NM_001114981.2",
"protein_id": "NP_001108453.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 461,
"cds_start": 673,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Cys",
"transcript": "NM_001329145.2",
"protein_id": "NP_001316074.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 416,
"cds_start": 673,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 4438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Cys",
"transcript": "NM_001329149.2",
"protein_id": "NP_001316078.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 412,
"cds_start": 673,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 4426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.673C>T",
"hgvs_p": "p.Arg225Cys",
"transcript": "NM_001114982.2",
"protein_id": "NP_001108454.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 393,
"cds_start": 673,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"hgvs_c": "c.418C>T",
"hgvs_p": "p.Arg140Cys",
"transcript": "NM_001329150.2",
"protein_id": "NP_001316079.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 327,
"cds_start": 418,
"cds_end": null,
"cds_length": 984,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 4171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TP63",
"gene_hgnc_id": 15979,
"dbsnp": "rs121908839",
"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": 0.9917351007461548,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.938,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9997,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.54,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.974,
"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": 19,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 19,
"benign_score": 0,
"pathogenic_score": 19,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000264731.8",
"gene_symbol": "TP63",
"hgnc_id": 15979,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Cys"
}
],
"clinvar_disease": " and cleft lip-palate syndrome 3, ectodermal dysplasia,Ectrodactyly,Split hand-foot malformation 4,TP63-Related Spectrum Disorders,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6",
"phenotype_combined": "Split hand-foot malformation 4|not provided|TP63-Related Spectrum Disorders|Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}