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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: 3-11558756-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=11558756&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 11558756,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001128219.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"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.691G>A",
"hgvs_p": "p.Glu231Lys",
"transcript": "NM_001128219.3",
"protein_id": "NP_001121691.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 296,
"cds_start": 691,
"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": "E",
"aa_alt": "K",
"canonical": true,
"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.691G>A",
"hgvs_p": "p.Glu231Lys",
"transcript": "ENST00000430365.7",
"protein_id": "ENSP00000404251.2",
"transcript_support_level": 2,
"aa_start": 231,
"aa_end": null,
"aa_length": 296,
"cds_start": 691,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Glu230Lys",
"transcript": "ENST00000426568.5",
"protein_id": "ENSP00000413030.2",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 295,
"cds_start": 688,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "ENST00000273038.7",
"protein_id": "ENSP00000273038.3",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 290,
"cds_start": 673,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Glu145Lys",
"transcript": "ENST00000451674.6",
"protein_id": "ENSP00000416615.2",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 210,
"cds_start": 433,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Glu141Lys",
"transcript": "ENST00000424529.6",
"protein_id": "ENSP00000402878.2",
"transcript_support_level": 1,
"aa_start": 141,
"aa_end": null,
"aa_length": 206,
"cds_start": 421,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.688G>A",
"hgvs_p": "p.Glu230Lys",
"transcript": "NM_001284390.2",
"protein_id": "NP_001271319.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 295,
"cds_start": 688,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "NM_014667.4",
"protein_id": "NP_055482.2",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 290,
"cds_start": 673,
"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": "E",
"aa_alt": "K",
"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.496G>A",
"hgvs_p": "p.Glu166Lys",
"transcript": "NM_001284391.1",
"protein_id": "NP_001271320.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 231,
"cds_start": 496,
"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": "E",
"aa_alt": "K",
"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.496G>A",
"hgvs_p": "p.Glu166Lys",
"transcript": "ENST00000413604.5",
"protein_id": "ENSP00000404624.1",
"transcript_support_level": 2,
"aa_start": 166,
"aa_end": null,
"aa_length": 231,
"cds_start": 496,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.433G>A",
"hgvs_p": "p.Glu145Lys",
"transcript": "NM_001128220.3",
"protein_id": "NP_001121692.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 210,
"cds_start": 433,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Glu141Lys",
"transcript": "NM_001128221.3",
"protein_id": "NP_001121693.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 206,
"cds_start": 421,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.700G>A",
"hgvs_p": "p.Glu234Lys",
"transcript": "XM_047449259.1",
"protein_id": "XP_047305215.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 299,
"cds_start": 700,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.676G>A",
"hgvs_p": "p.Glu226Lys",
"transcript": "XM_047449260.1",
"protein_id": "XP_047305216.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 291,
"cds_start": 676,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "XM_024453835.2",
"protein_id": "XP_024309603.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 290,
"cds_start": 673,
"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": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.673G>A",
"hgvs_p": "p.Glu225Lys",
"transcript": "XM_024453836.2",
"protein_id": "XP_024309604.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 290,
"cds_start": 673,
"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": "E",
"aa_alt": "K",
"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.496G>A",
"hgvs_p": "p.Glu166Lys",
"transcript": "XM_011534269.2",
"protein_id": "XP_011532571.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 231,
"cds_start": 496,
"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": "E",
"aa_alt": "K",
"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.496G>A",
"hgvs_p": "p.Glu166Lys",
"transcript": "XM_047449261.1",
"protein_id": "XP_047305217.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 231,
"cds_start": 496,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.*98G>A",
"hgvs_p": null,
"transcript": "XM_047449262.1",
"protein_id": "XP_047305218.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_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.*98G>A",
"hgvs_p": null,
"transcript": "XM_047449263.1",
"protein_id": "XP_047305219.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 210,
"cds_start": null,
"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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.*98G>A",
"hgvs_p": null,
"transcript": "XM_024453837.2",
"protein_id": "XP_024309605.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 204,
"cds_start": null,
"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"
},
{
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "ATG7",
"gene_hgnc_id": 16935,
"hgvs_c": "c.1147-5503C>T",
"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,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ATG7",
"gene_hgnc_id": 16935,
"hgvs_c": "n.2124-5503C>T",
"hgvs_p": null,
"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"
},
{
"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": 20,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ATG7",
"gene_hgnc_id": 16935,
"hgvs_c": "n.2124-5503C>T",
"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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.*2G>A",
"hgvs_p": null,
"transcript": "ENST00000445411.5",
"protein_id": "ENSP00000412923.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 222,
"cds_start": null,
"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"
}
],
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"dbsnp": "rs763815966",
"frequency_reference_population": 0.0000074347786,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000752471,
"gnomad_genomes_af": 0.00000657091,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4950122535228729,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.194,
"revel_prediction": "Benign",
"alphamissense_score": 0.4338,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.767,
"phylop100way_prediction": "Pathogenic",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001128219.3",
"gene_symbol": "VGLL4",
"hgnc_id": 28966,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Glu231Lys"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001349238.2",
"gene_symbol": "ATG7",
"hgnc_id": 16935,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1147-5503C>T",
"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
}