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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: 10-53809510-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=53809510&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 53809510,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000644397.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4534A>G",
"hgvs_p": "p.Ile1512Val",
"transcript": "ENST00000395445.6",
"protein_id": "ENSP00000378832.2",
"transcript_support_level": 1,
"aa_start": 1512,
"aa_end": null,
"aa_length": 1783,
"cds_start": 4534,
"cds_end": null,
"cds_length": 5352,
"cdna_start": 4869,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4671+1046A>G",
"hgvs_p": null,
"transcript": "NM_001384140.1",
"protein_id": "NP_001371069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1740,
"cds_start": -4,
"cds_end": null,
"cds_length": 5223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9366,
"mane_select": "ENST00000644397.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4671+1046A>G",
"hgvs_p": null,
"transcript": "ENST00000644397.2",
"protein_id": "ENSP00000495195.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1740,
"cds_start": -4,
"cds_end": null,
"cds_length": 5223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9366,
"mane_select": "NM_001384140.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4476+1046A>G",
"hgvs_p": null,
"transcript": "ENST00000616114.4",
"protein_id": "ENSP00000483745.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1675,
"cds_start": -4,
"cds_end": null,
"cds_length": 5028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4555A>G",
"hgvs_p": "p.Ile1519Val",
"transcript": "NM_001142769.3",
"protein_id": "NP_001136241.1",
"transcript_support_level": null,
"aa_start": 1519,
"aa_end": null,
"aa_length": 1790,
"cds_start": 4555,
"cds_end": null,
"cds_length": 5373,
"cdna_start": 4890,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4555A>G",
"hgvs_p": "p.Ile1519Val",
"transcript": "ENST00000613657.6",
"protein_id": "ENSP00000482794.1",
"transcript_support_level": 5,
"aa_start": 1519,
"aa_end": null,
"aa_length": 1790,
"cds_start": 4555,
"cds_end": null,
"cds_length": 5373,
"cdna_start": 4890,
"cdna_end": null,
"cdna_length": 6330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4534A>G",
"hgvs_p": "p.Ile1512Val",
"transcript": "NM_001354411.2",
"protein_id": "NP_001341340.1",
"transcript_support_level": null,
"aa_start": 1512,
"aa_end": null,
"aa_length": 1783,
"cds_start": 4534,
"cds_end": null,
"cds_length": 5352,
"cdna_start": 4869,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.2128A>G",
"hgvs_p": "p.Ile710Val",
"transcript": "ENST00000395446.5",
"protein_id": "ENSP00000378833.1",
"transcript_support_level": 5,
"aa_start": 710,
"aa_end": null,
"aa_length": 981,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 2523,
"cdna_end": null,
"cdna_length": 3948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.1342A>G",
"hgvs_p": "p.Ile448Val",
"transcript": "ENST00000395440.5",
"protein_id": "ENSP00000378827.1",
"transcript_support_level": 5,
"aa_start": 448,
"aa_end": null,
"aa_length": 719,
"cds_start": 1342,
"cds_end": null,
"cds_length": 2160,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 3177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.1135A>G",
"hgvs_p": "p.Ile379Val",
"transcript": "ENST00000395442.5",
"protein_id": "ENSP00000378829.1",
"transcript_support_level": 5,
"aa_start": 379,
"aa_end": null,
"aa_length": 650,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1530,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4534A>G",
"hgvs_p": "p.Ile1512Val",
"transcript": "XM_047425664.1",
"protein_id": "XP_047281620.1",
"transcript_support_level": null,
"aa_start": 1512,
"aa_end": null,
"aa_length": 1783,
"cds_start": 4534,
"cds_end": null,
"cds_length": 5352,
"cdna_start": 4869,
"cdna_end": null,
"cdna_length": 6048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4590A>G",
"hgvs_p": "p.Lys1530Lys",
"transcript": "NM_001142770.3",
"protein_id": "NP_001136242.1",
"transcript_support_level": null,
"aa_start": 1530,
"aa_end": null,
"aa_length": 1539,
"cds_start": 4590,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4925,
"cdna_end": null,
"cdna_length": 6365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4590A>G",
"hgvs_p": "p.Lys1530Lys",
"transcript": "ENST00000617271.4",
"protein_id": "ENSP00000478076.1",
"transcript_support_level": 5,
"aa_start": 1530,
"aa_end": null,
"aa_length": 1539,
"cds_start": 4590,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4985,
"cdna_end": null,
"cdna_length": 6425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.3423A>G",
"hgvs_p": "p.Lys1141Lys",
"transcript": "ENST00000409834.5",
"protein_id": "ENSP00000386693.1",
"transcript_support_level": 5,
"aa_start": 1141,
"aa_end": null,
"aa_length": 1150,
"cds_start": 3423,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 3999,
"cdna_end": null,
"cdna_length": 5401,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "n.*593A>G",
"hgvs_p": null,
"transcript": "ENST00000414367.5",
"protein_id": "ENSP00000412531.1",
"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": 3357,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.*42A>G",
"hgvs_p": null,
"transcript": "ENST00000615043.1",
"protein_id": "ENSP00000478551.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 36,
"cds_start": -4,
"cds_end": null,
"cds_length": 111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1143,
"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": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "n.*593A>G",
"hgvs_p": null,
"transcript": "ENST00000414367.5",
"protein_id": "ENSP00000412531.1",
"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": 3357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4605+1046A>G",
"hgvs_p": null,
"transcript": "NM_001354429.2",
"protein_id": "NP_001341358.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1718,
"cds_start": -4,
"cds_end": null,
"cds_length": 5157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4497+1046A>G",
"hgvs_p": null,
"transcript": "NM_001142771.2",
"protein_id": "NP_001136243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1682,
"cds_start": -4,
"cds_end": null,
"cds_length": 5049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4497+1046A>G",
"hgvs_p": null,
"transcript": "ENST00000621708.4",
"protein_id": "ENSP00000484454.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1682,
"cds_start": -4,
"cds_end": null,
"cds_length": 5049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4482+1046A>G",
"hgvs_p": null,
"transcript": "NM_001142772.2",
"protein_id": "NP_001136244.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1677,
"cds_start": -4,
"cds_end": null,
"cds_length": 5034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4482+1046A>G",
"hgvs_p": null,
"transcript": "ENST00000373965.6",
"protein_id": "ENSP00000363076.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1677,
"cds_start": -4,
"cds_end": null,
"cds_length": 5034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"hgvs_c": "c.4476+1046A>G",
"hgvs_p": null,
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{
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"canonical": false,
"protein_coding": true,
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{
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"exon_count": 10,
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"hgvs_c": "c.831+1046A>G",
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"transcript": "ENST00000618301.4",
"protein_id": "ENSP00000482780.1",
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{
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],
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{
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],
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"gene_symbol": "PCDH15",
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},
{
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],
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"gene_symbol": "PCDH15",
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"hgvs_c": "c.4467+1046A>G",
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"transcript": "XM_047425663.1",
"protein_id": "XP_047281619.1",
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"cds_end": null,
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"cdna_length": 9162,
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"feature": null
}
],
"gene_symbol": "PCDH15",
"gene_hgnc_id": 14674,
"dbsnp": "rs201855435",
"frequency_reference_population": 0.00020745728,
"hom_count_reference_population": 3,
"allele_count_reference_population": 334,
"gnomad_exomes_af": 0.000179741,
"gnomad_genomes_af": 0.000472708,
"gnomad_exomes_ac": 262,
"gnomad_genomes_ac": 72,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00415414571762085,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.106,
"revel_prediction": "Benign",
"alphamissense_score": 0.0845,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.101,
"phylop100way_prediction": "Benign",
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000644397.2",
"gene_symbol": "PCDH15",
"hgnc_id": 14674,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4671+1046A>G",
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}
],
"clinvar_disease": "Inborn genetic diseases,PCDH15-related disorder,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:1",
"phenotype_combined": "not specified|not provided|PCDH15-related disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}