← Back to variant description
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: 18-45922394-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=45922394&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 45922394,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000282041.11",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "NM_020964.3",
"protein_id": "NP_066015.2",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2579,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7740,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 12688,
"mane_select": "ENST00000282041.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "ENST00000282041.11",
"protein_id": "ENSP00000282041.4",
"transcript_support_level": 1,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2579,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7740,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 12688,
"mane_select": "NM_020964.3",
"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": 16,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "n.3045G>C",
"hgvs_p": null,
"transcript": "ENST00000587884.2",
"protein_id": "ENSP00000466990.2",
"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": 12724,
"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": 16,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "n.3080G>C",
"hgvs_p": null,
"transcript": "ENST00000587974.1",
"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": 4457,
"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": 16,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "n.3045G>C",
"hgvs_p": null,
"transcript": "ENST00000590884.6",
"protein_id": "ENSP00000466403.2",
"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": 12259,
"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": 16,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "n.3045G>C",
"hgvs_p": null,
"transcript": "ENST00000592272.6",
"protein_id": "ENSP00000467464.2",
"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": 12491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "NM_001410859.1",
"protein_id": "NP_001397788.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2578,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7737,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 12685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "ENST00000696489.1",
"protein_id": "ENSP00000512660.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2578,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7737,
"cdna_start": 3045,
"cdna_end": null,
"cdna_length": 12583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "NM_001410858.1",
"protein_id": "NP_001397787.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2544,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7635,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 7957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "ENST00000696483.1",
"protein_id": "ENSP00000512657.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2544,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7635,
"cdna_start": 3133,
"cdna_end": null,
"cdna_length": 7955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "ENST00000696484.1",
"protein_id": "ENSP00000512658.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2492,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7479,
"cdna_start": 3133,
"cdna_end": null,
"cdna_length": 7816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "ENST00000696490.1",
"protein_id": "ENSP00000512661.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2482,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7449,
"cdna_start": 3133,
"cdna_end": null,
"cdna_length": 9473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "XM_047437698.1",
"protein_id": "XP_047293654.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2598,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7797,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 13484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "XM_047437699.1",
"protein_id": "XP_047293655.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2597,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7794,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 13481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "XM_011526122.2",
"protein_id": "XP_011524424.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2589,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7770,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 13457,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "XM_017025889.2",
"protein_id": "XP_016881378.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2588,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7767,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 13454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "XM_047437700.1",
"protein_id": "XP_047293656.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2588,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7767,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 12715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "XM_047437701.1",
"protein_id": "XP_047293657.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2587,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7764,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 12712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "XM_047437703.1",
"protein_id": "XP_047293659.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2553,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7662,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 7984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "XM_047437704.1",
"protein_id": "XP_047293660.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2552,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7659,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 7981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "XM_047437705.1",
"protein_id": "XP_047293661.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2551,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7656,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 13343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "XM_047437706.1",
"protein_id": "XP_047293662.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2543,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7632,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 7954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "XM_017025891.2",
"protein_id": "XP_016881380.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2542,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7629,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 13316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "XM_047437707.1",
"protein_id": "XP_047293663.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2541,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7626,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 13313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "XM_047437708.1",
"protein_id": "XP_047293664.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2532,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7599,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 12547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "XM_047437709.1",
"protein_id": "XP_047293665.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2531,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7596,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 12544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "XM_047437710.1",
"protein_id": "XP_047293666.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 2497,
"cds_start": 3045,
"cds_end": null,
"cds_length": 7494,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 7816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.1980G>C",
"hgvs_p": "p.Ala660Ala",
"transcript": "XM_047437711.1",
"protein_id": "XP_047293667.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 2243,
"cds_start": 1980,
"cds_end": null,
"cds_length": 6732,
"cdna_start": 3170,
"cdna_end": null,
"cdna_length": 13519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "XM_047437712.1",
"protein_id": "XP_047293668.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1990,
"cds_start": 3045,
"cds_end": null,
"cds_length": 5973,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 6136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala",
"transcript": "XM_047437713.1",
"protein_id": "XP_047293669.1",
"transcript_support_level": null,
"aa_start": 1015,
"aa_end": null,
"aa_length": 1791,
"cds_start": 3045,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 3135,
"cdna_end": null,
"cdna_length": 5565,
"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": 1,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "n.133G>C",
"hgvs_p": null,
"transcript": "ENST00000586655.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 10847,
"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": 16,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "n.3045G>C",
"hgvs_p": null,
"transcript": "ENST00000696485.1",
"protein_id": "ENSP00000512659.1",
"transcript_support_level": null,
"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": 12615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"hgvs_c": "n.2838+874G>C",
"hgvs_p": null,
"transcript": "ENST00000696482.1",
"protein_id": "ENSP00000512656.1",
"transcript_support_level": null,
"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": 9125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EPG5",
"gene_hgnc_id": 29331,
"dbsnp": "rs772585558",
"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": -0.5799999833106995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.534,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000282041.11",
"gene_symbol": "EPG5",
"hgnc_id": 29331,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3045G>C",
"hgvs_p": "p.Ala1015Ala"
}
],
"clinvar_disease": "Vici syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Vici syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}