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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: 8-144425007-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144425007&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144425007,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_183057.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val",
"transcript": "NM_016208.4",
"protein_id": "NP_057292.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 221,
"cds_start": 239,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292510.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016208.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val",
"transcript": "ENST00000292510.6",
"protein_id": "ENSP00000292510.3",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 221,
"cds_start": 239,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016208.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292510.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val",
"transcript": "ENST00000377348.6",
"protein_id": "ENSP00000366565.2",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 233,
"cds_start": 239,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377348.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val",
"transcript": "ENST00000526054.5",
"protein_id": "ENSP00000434064.1",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 221,
"cds_start": 239,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526054.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val",
"transcript": "ENST00000531032.5",
"protein_id": "ENSP00000434393.1",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 160,
"cds_start": 239,
"cds_end": null,
"cds_length": 484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531032.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.284C>T",
"hgvs_p": "p.Ala95Val",
"transcript": "ENST00000969315.1",
"protein_id": "ENSP00000639374.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 236,
"cds_start": 284,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969315.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val",
"transcript": "ENST00000909914.1",
"protein_id": "ENSP00000579973.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 235,
"cds_start": 281,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909914.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.281C>T",
"hgvs_p": "p.Ala94Val",
"transcript": "ENST00000909917.1",
"protein_id": "ENSP00000579976.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 235,
"cds_start": 281,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909917.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val",
"transcript": "NM_183057.3",
"protein_id": "NP_898880.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 233,
"cds_start": 239,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183057.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val",
"transcript": "ENST00000529182.5",
"protein_id": "ENSP00000434556.1",
"transcript_support_level": 2,
"aa_start": 80,
"aa_end": null,
"aa_length": 233,
"cds_start": 239,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529182.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ala90Val",
"transcript": "ENST00000969326.1",
"protein_id": "ENSP00000639385.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 231,
"cds_start": 269,
"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": "ENST00000969326.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.269C>T",
"hgvs_p": "p.Ala90Val",
"transcript": "ENST00000969319.1",
"protein_id": "ENSP00000639378.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 229,
"cds_start": 269,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969319.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.251C>T",
"hgvs_p": "p.Ala84Val",
"transcript": "ENST00000909921.1",
"protein_id": "ENSP00000579980.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 225,
"cds_start": 251,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909921.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val",
"transcript": "ENST00000909910.1",
"protein_id": "ENSP00000579969.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 221,
"cds_start": 239,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909910.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val",
"transcript": "ENST00000909911.1",
"protein_id": "ENSP00000579970.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 221,
"cds_start": 239,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909911.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val",
"transcript": "ENST00000909912.1",
"protein_id": "ENSP00000579971.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 221,
"cds_start": 239,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909912.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val",
"transcript": "ENST00000969316.1",
"protein_id": "ENSP00000639375.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 221,
"cds_start": 239,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969316.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val",
"transcript": "ENST00000969317.1",
"protein_id": "ENSP00000639376.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 221,
"cds_start": 239,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969317.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val",
"transcript": "ENST00000969318.1",
"protein_id": "ENSP00000639377.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 221,
"cds_start": 239,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969318.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val",
"transcript": "ENST00000969325.1",
"protein_id": "ENSP00000639384.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 221,
"cds_start": 239,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969325.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val",
"transcript": "ENST00000909913.1",
"protein_id": "ENSP00000579972.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 219,
"cds_start": 239,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909913.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val",
"transcript": "ENST00000938153.1",
"protein_id": "ENSP00000608212.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 219,
"cds_start": 239,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938153.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
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"biotype": "retained_intron",
"feature": "ENST00000526977.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 7,
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"gene_symbol": "VPS28",
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"biotype": "retained_intron",
"feature": "ENST00000527797.6"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
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"hgvs_c": "n.1093C>T",
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"transcript": "ENST00000528142.5",
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"transcript_support_level": 3,
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"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"biotype": "retained_intron",
"feature": "ENST00000528142.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
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"hgvs_c": "n.*866C>T",
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"transcript": "ENST00000530836.5",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000530836.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_rank_end": null,
"exon_count": 5,
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"gene_symbol": "VPS28",
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"transcript": "ENST00000530983.5",
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"feature": "ENST00000530983.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "VPS28",
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"hgvs_c": "n.*913C>T",
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"transcript": "ENST00000526204.5",
"protein_id": "ENSP00000433228.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000526204.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
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"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VPS28",
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"hgvs_c": "n.*866C>T",
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"transcript": "ENST00000530836.5",
"protein_id": "ENSP00000436102.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000530836.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"hgvs_c": "n.660-7C>T",
"hgvs_p": null,
"transcript": "ENST00000531924.1",
"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": "retained_intron",
"feature": "ENST00000531924.1"
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],
"gene_symbol": "VPS28",
"gene_hgnc_id": 18178,
"dbsnp": "rs948047369",
"frequency_reference_population": 0.000010287894,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.00000997843,
"gnomad_genomes_af": 0.0000131406,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7469193935394287,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3700000047683716,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.265,
"revel_prediction": "Benign",
"alphamissense_score": 0.836,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.171,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.37,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_183057.3",
"gene_symbol": "VPS28",
"hgnc_id": 18178,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val"
}
],
"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
}