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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: 3-11559374-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=11559374&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 11559374,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001128219.3",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.577T>G",
"hgvs_p": "p.Cys193Gly",
"transcript": "NM_001128219.3",
"protein_id": "NP_001121691.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 296,
"cds_start": 577,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000430365.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128219.3"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.577T>G",
"hgvs_p": "p.Cys193Gly",
"transcript": "ENST00000430365.7",
"protein_id": "ENSP00000404251.2",
"transcript_support_level": 2,
"aa_start": 193,
"aa_end": null,
"aa_length": 296,
"cds_start": 577,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001128219.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430365.7"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.574T>G",
"hgvs_p": "p.Cys192Gly",
"transcript": "ENST00000426568.5",
"protein_id": "ENSP00000413030.2",
"transcript_support_level": 1,
"aa_start": 192,
"aa_end": null,
"aa_length": 295,
"cds_start": 574,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426568.5"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.559T>G",
"hgvs_p": "p.Cys187Gly",
"transcript": "ENST00000273038.7",
"protein_id": "ENSP00000273038.3",
"transcript_support_level": 1,
"aa_start": 187,
"aa_end": null,
"aa_length": 290,
"cds_start": 559,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273038.7"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.319T>G",
"hgvs_p": "p.Cys107Gly",
"transcript": "ENST00000451674.6",
"protein_id": "ENSP00000416615.2",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 210,
"cds_start": 319,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451674.6"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.307T>G",
"hgvs_p": "p.Cys103Gly",
"transcript": "ENST00000424529.6",
"protein_id": "ENSP00000402878.2",
"transcript_support_level": 1,
"aa_start": 103,
"aa_end": null,
"aa_length": 206,
"cds_start": 307,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424529.6"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.574T>G",
"hgvs_p": "p.Cys192Gly",
"transcript": "NM_001284390.2",
"protein_id": "NP_001271319.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 295,
"cds_start": 574,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284390.2"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.559T>G",
"hgvs_p": "p.Cys187Gly",
"transcript": "NM_014667.4",
"protein_id": "NP_055482.2",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 290,
"cds_start": 559,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014667.4"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.382T>G",
"hgvs_p": "p.Cys128Gly",
"transcript": "NM_001284391.1",
"protein_id": "NP_001271320.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 231,
"cds_start": 382,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284391.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.382T>G",
"hgvs_p": "p.Cys128Gly",
"transcript": "ENST00000413604.5",
"protein_id": "ENSP00000404624.1",
"transcript_support_level": 2,
"aa_start": 128,
"aa_end": null,
"aa_length": 231,
"cds_start": 382,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413604.5"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.559T>G",
"hgvs_p": "p.Cys187Gly",
"transcript": "ENST00000445411.5",
"protein_id": "ENSP00000412923.1",
"transcript_support_level": 5,
"aa_start": 187,
"aa_end": null,
"aa_length": 222,
"cds_start": 559,
"cds_end": null,
"cds_length": 671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445411.5"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.319T>G",
"hgvs_p": "p.Cys107Gly",
"transcript": "NM_001128220.3",
"protein_id": "NP_001121692.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 210,
"cds_start": 319,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128220.3"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.307T>G",
"hgvs_p": "p.Cys103Gly",
"transcript": "NM_001128221.3",
"protein_id": "NP_001121693.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 206,
"cds_start": 307,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128221.3"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.559T>G",
"hgvs_p": "p.Cys187Gly",
"transcript": "ENST00000418000.5",
"protein_id": "ENSP00000394439.1",
"transcript_support_level": 3,
"aa_start": 187,
"aa_end": null,
"aa_length": 199,
"cds_start": 559,
"cds_end": null,
"cds_length": 601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418000.5"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.547T>G",
"hgvs_p": "p.Cys183Gly",
"transcript": "ENST00000458499.5",
"protein_id": "ENSP00000394123.1",
"transcript_support_level": 3,
"aa_start": 183,
"aa_end": null,
"aa_length": 189,
"cds_start": 547,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458499.5"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.586T>G",
"hgvs_p": "p.Cys196Gly",
"transcript": "XM_047449259.1",
"protein_id": "XP_047305215.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 299,
"cds_start": 586,
"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": "XM_047449259.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.562T>G",
"hgvs_p": "p.Cys188Gly",
"transcript": "XM_047449260.1",
"protein_id": "XP_047305216.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 291,
"cds_start": 562,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449260.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.559T>G",
"hgvs_p": "p.Cys187Gly",
"transcript": "XM_024453835.2",
"protein_id": "XP_024309603.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 290,
"cds_start": 559,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453835.2"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.559T>G",
"hgvs_p": "p.Cys187Gly",
"transcript": "XM_024453836.2",
"protein_id": "XP_024309604.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 290,
"cds_start": 559,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453836.2"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.382T>G",
"hgvs_p": "p.Cys128Gly",
"transcript": "XM_011534269.2",
"protein_id": "XP_011532571.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 231,
"cds_start": 382,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534269.2"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.382T>G",
"hgvs_p": "p.Cys128Gly",
"transcript": "XM_047449261.1",
"protein_id": "XP_047305217.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 231,
"cds_start": 382,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449261.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.586T>G",
"hgvs_p": "p.Cys196Gly",
"transcript": "XM_047449262.1",
"protein_id": "XP_047305218.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 213,
"cds_start": 586,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449262.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
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"hgvs_c": "c.577T>G",
"hgvs_p": "p.Cys193Gly",
"transcript": "XM_047449263.1",
"protein_id": "XP_047305219.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 210,
"cds_start": 577,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449263.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.559T>G",
"hgvs_p": "p.Cys187Gly",
"transcript": "XM_024453837.2",
"protein_id": "XP_024309605.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 204,
"cds_start": 559,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453837.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 17,
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"gene_symbol": "ATG7",
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"hgvs_c": "c.1147-4885A>C",
"hgvs_p": null,
"transcript": "NM_001349238.2",
"protein_id": "NP_001336167.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": null,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349238.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 18,
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"gene_symbol": "ATG7",
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"hgvs_c": "n.2124-4885A>C",
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"transcript": "XR_007095622.1",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_007095622.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ATG7",
"gene_hgnc_id": 16935,
"hgvs_c": "n.2124-4885A>C",
"hgvs_p": null,
"transcript": "XR_007095623.1",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_007095623.1"
}
],
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"dbsnp": null,
"frequency_reference_population": 0.0000021403805,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000214038,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23492330312728882,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.199,
"revel_prediction": "Benign",
"alphamissense_score": 0.206,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.107,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001128219.3",
"gene_symbol": "VGLL4",
"hgnc_id": 28966,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.577T>G",
"hgvs_p": "p.Cys193Gly"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001349238.2",
"gene_symbol": "ATG7",
"hgnc_id": 16935,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1147-4885A>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}