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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: 16-574693-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=574693&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 574693,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_148920.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207*",
"transcript": "NM_004204.5",
"protein_id": "NP_004195.2",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 581,
"cds_start": 619,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321878.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004204.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207*",
"transcript": "ENST00000321878.10",
"protein_id": "ENSP00000326674.6",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 581,
"cds_start": 619,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004204.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321878.10"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207*",
"transcript": "ENST00000026218.9",
"protein_id": "ENSP00000026218.5",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 760,
"cds_start": 619,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000026218.9"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207*",
"transcript": "ENST00000470411.2",
"protein_id": "ENSP00000439650.1",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 299,
"cds_start": 619,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470411.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207*",
"transcript": "NM_148920.4",
"protein_id": "NP_683721.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 760,
"cds_start": 619,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_148920.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207*",
"transcript": "ENST00000854227.1",
"protein_id": "ENSP00000524286.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 635,
"cds_start": 619,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854227.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207*",
"transcript": "ENST00000854222.1",
"protein_id": "ENSP00000524281.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 625,
"cds_start": 619,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854222.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207*",
"transcript": "ENST00000854224.1",
"protein_id": "ENSP00000524283.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 608,
"cds_start": 619,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854224.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207*",
"transcript": "ENST00000968575.1",
"protein_id": "ENSP00000638634.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 608,
"cds_start": 619,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968575.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207*",
"transcript": "ENST00000409527.6",
"protein_id": "ENSP00000386760.2",
"transcript_support_level": 2,
"aa_start": 207,
"aa_end": null,
"aa_length": 581,
"cds_start": 619,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409527.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207*",
"transcript": "ENST00000854221.1",
"protein_id": "ENSP00000524280.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 581,
"cds_start": 619,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854221.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207*",
"transcript": "ENST00000854223.1",
"protein_id": "ENSP00000524282.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 581,
"cds_start": 619,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854223.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207*",
"transcript": "ENST00000854228.1",
"protein_id": "ENSP00000524287.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 581,
"cds_start": 619,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854228.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207*",
"transcript": "ENST00000968576.1",
"protein_id": "ENSP00000638635.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 581,
"cds_start": 619,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968576.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207*",
"transcript": "ENST00000968577.1",
"protein_id": "ENSP00000638636.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 581,
"cds_start": 619,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968577.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207*",
"transcript": "ENST00000968578.1",
"protein_id": "ENSP00000638637.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 581,
"cds_start": 619,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968578.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207*",
"transcript": "ENST00000854226.1",
"protein_id": "ENSP00000524285.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 572,
"cds_start": 619,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854226.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207*",
"transcript": "ENST00000854225.1",
"protein_id": "ENSP00000524284.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 537,
"cds_start": 619,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854225.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207*",
"transcript": "ENST00000422307.6",
"protein_id": "ENSP00000413753.2",
"transcript_support_level": 3,
"aa_start": 207,
"aa_end": null,
"aa_length": 396,
"cds_start": 619,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422307.6"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000282907",
"gene_hgnc_id": null,
"hgvs_c": "n.781C>T",
"hgvs_p": null,
"transcript": "ENST00000409439.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000409439.6"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"hgvs_c": "n.661C>T",
"hgvs_p": null,
"transcript": "ENST00000443147.5",
"protein_id": "ENSP00000410434.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000443147.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000282907",
"gene_hgnc_id": null,
"hgvs_c": "n.963C>T",
"hgvs_p": null,
"transcript": "ENST00000635107.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000635107.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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{
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{
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],
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"gene_symbol": "PIGQ",
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"transcript": "ENST00000635909.1",
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"feature": "ENST00000635909.1"
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{
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"protein_coding": true,
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"consequences": [
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],
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"exon_count": 3,
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"gene_symbol": "PIGQ",
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"transcript": "ENST00000293874.2",
"protein_id": "ENSP00000293874.2",
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"biotype": "protein_coding",
"feature": "ENST00000293874.2"
},
{
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"upstream_gene_variant"
],
"exon_rank": null,
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"gene_symbol": "PIGQ",
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"transcript": "ENST00000636005.1",
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{
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"gene_symbol": "PIGQ",
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"hgvs_c": "n.-60C>T",
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"transcript": "ENST00000637468.1",
"protein_id": "ENSP00000490672.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000637468.1"
}
],
"gene_symbol": "PIGQ",
"gene_hgnc_id": 14135,
"dbsnp": "rs730882240",
"frequency_reference_population": 0.000008740855,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000689904,
"gnomad_genomes_af": 0.0000262816,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6299999952316284,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.9700000286102295,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.63,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.671,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.97,
"spliceai_max_prediction": "Pathogenic",
"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,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_148920.4",
"gene_symbol": "PIGQ",
"hgnc_id": 14135,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Arg207*"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000409439.6",
"gene_symbol": "ENSG00000282907",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.781C>T",
"hgvs_p": null
}
],
"clinvar_disease": " 77,Developmental and epileptic encephalopathy,Epilepsy,Global developmental delay,Intractable seizure,Optic atrophy",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Global developmental delay;Optic atrophy;Intractable seizure|Developmental and epileptic encephalopathy, 77|Epilepsy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}