← 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: 3-146449207-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=146449207&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 146449207,
"ref": "A",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001199978.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Ile215Thr",
"transcript": "NM_001395437.1",
"protein_id": "NP_001382366.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 224,
"cds_start": 644,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000696113.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395437.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Ile215Thr",
"transcript": "ENST00000696113.1",
"protein_id": "ENSP00000512407.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 224,
"cds_start": 644,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395437.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696113.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.851T>C",
"hgvs_p": "p.Ile284Thr",
"transcript": "ENST00000613069.4",
"protein_id": "ENSP00000478902.1",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 293,
"cds_start": 851,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613069.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Ile215Thr",
"transcript": "ENST00000336685.6",
"protein_id": "ENSP00000338707.2",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 224,
"cds_start": 644,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336685.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Ile215Thr",
"transcript": "ENST00000610787.5",
"protein_id": "ENSP00000478044.1",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 224,
"cds_start": 644,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610787.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.863T>C",
"hgvs_p": "p.Ile288Thr",
"transcript": "NM_001199978.3",
"protein_id": "NP_001186907.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 297,
"cds_start": 863,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199978.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.863T>C",
"hgvs_p": "p.Ile288Thr",
"transcript": "NM_001395440.1",
"protein_id": "NP_001382369.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 297,
"cds_start": 863,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395440.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.863T>C",
"hgvs_p": "p.Ile288Thr",
"transcript": "ENST00000497985.5",
"protein_id": "ENSP00000420132.1",
"transcript_support_level": 2,
"aa_start": 288,
"aa_end": null,
"aa_length": 297,
"cds_start": 863,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000497985.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.863T>C",
"hgvs_p": "p.Ile288Thr",
"transcript": "ENST00000696119.1",
"protein_id": "ENSP00000512413.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 297,
"cds_start": 863,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696119.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.851T>C",
"hgvs_p": "p.Ile284Thr",
"transcript": "NM_001199979.1",
"protein_id": "NP_001186908.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 293,
"cds_start": 851,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199979.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Ile215Thr",
"transcript": "NM_001395438.1",
"protein_id": "NP_001382367.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 224,
"cds_start": 644,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395438.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Ile215Thr",
"transcript": "NM_001395439.1",
"protein_id": "NP_001382368.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 224,
"cds_start": 644,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395439.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Ile215Thr",
"transcript": "NM_020359.4",
"protein_id": "NP_065092.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 224,
"cds_start": 644,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020359.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Ile215Thr",
"transcript": "ENST00000696120.1",
"protein_id": "ENSP00000512414.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 224,
"cds_start": 644,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696120.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.218T>C",
"hgvs_p": "p.Ile73Thr",
"transcript": "ENST00000941950.1",
"protein_id": "ENSP00000612009.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 82,
"cds_start": 218,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941950.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.863T>C",
"hgvs_p": "p.Ile288Thr",
"transcript": "XM_024453670.2",
"protein_id": "XP_024309438.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 297,
"cds_start": 863,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453670.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.863T>C",
"hgvs_p": "p.Ile288Thr",
"transcript": "XM_024453671.2",
"protein_id": "XP_024309439.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 297,
"cds_start": 863,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453671.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.863T>C",
"hgvs_p": "p.Ile288Thr",
"transcript": "XM_024453672.2",
"protein_id": "XP_024309440.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 297,
"cds_start": 863,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453672.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.863T>C",
"hgvs_p": "p.Ile288Thr",
"transcript": "XM_024453673.2",
"protein_id": "XP_024309441.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 297,
"cds_start": 863,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453673.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.863T>C",
"hgvs_p": "p.Ile288Thr",
"transcript": "XM_024453674.2",
"protein_id": "XP_024309442.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 297,
"cds_start": 863,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453674.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.851T>C",
"hgvs_p": "p.Ile284Thr",
"transcript": "XM_011513022.4",
"protein_id": "XP_011511324.3",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 293,
"cds_start": 851,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513022.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.851T>C",
"hgvs_p": "p.Ile284Thr",
"transcript": "XM_011513023.4",
"protein_id": "XP_011511325.3",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 293,
"cds_start": 851,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513023.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.851T>C",
"hgvs_p": "p.Ile284Thr",
"transcript": "XM_017006903.3",
"protein_id": "XP_016862392.2",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 293,
"cds_start": 851,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006903.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Ile215Thr",
"transcript": "XM_017006911.2",
"protein_id": "XP_016862400.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 224,
"cds_start": 644,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006911.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Ile215Thr",
"transcript": "XM_047448608.1",
"protein_id": "XP_047304564.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 224,
"cds_start": 644,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448608.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Ile215Thr",
"transcript": "XM_047448609.1",
"protein_id": "XP_047304565.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 224,
"cds_start": 644,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448609.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Ile215Thr",
"transcript": "XM_047448610.1",
"protein_id": "XP_047304566.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 224,
"cds_start": 644,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448610.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.644T>C",
"hgvs_p": "p.Ile215Thr",
"transcript": "XM_047448611.1",
"protein_id": "XP_047304567.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 224,
"cds_start": 644,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448611.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "c.638T>C",
"hgvs_p": "p.Ile213Thr",
"transcript": "XM_024453677.2",
"protein_id": "XP_024309445.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 222,
"cds_start": 638,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453677.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "n.507T>C",
"hgvs_p": null,
"transcript": "NR_172560.1",
"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": "NR_172560.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "n.949T>C",
"hgvs_p": null,
"transcript": "NR_172561.1",
"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": "NR_172561.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "n.920T>C",
"hgvs_p": null,
"transcript": "XR_002959557.2",
"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_002959557.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "n.920T>C",
"hgvs_p": null,
"transcript": "XR_002959558.2",
"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_002959558.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "n.920T>C",
"hgvs_p": null,
"transcript": "XR_002959559.2",
"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_002959559.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "n.920T>C",
"hgvs_p": null,
"transcript": "XR_002959560.2",
"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_002959560.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "n.920T>C",
"hgvs_p": null,
"transcript": "XR_002959561.2",
"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_002959561.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "n.920T>C",
"hgvs_p": null,
"transcript": "XR_002959562.2",
"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_002959562.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "n.920T>C",
"hgvs_p": null,
"transcript": "XR_002959563.2",
"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_002959563.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "n.920T>C",
"hgvs_p": null,
"transcript": "XR_002959564.2",
"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_002959564.2"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "n.100+9204T>C",
"hgvs_p": null,
"transcript": "ENST00000463633.5",
"protein_id": "ENSP00000419669.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000463633.5"
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"hgvs_c": "n.346+9204T>C",
"hgvs_p": null,
"transcript": "NR_172559.1",
"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": "NR_172559.1"
}
],
"gene_symbol": "PLSCR2",
"gene_hgnc_id": 16494,
"dbsnp": "rs550593565",
"frequency_reference_population": 0.000011799454,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000116604,
"gnomad_genomes_af": 0.0000131308,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7927979826927185,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.49399998784065247,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.395,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2537,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.736,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.277899355975615,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001199978.3",
"gene_symbol": "PLSCR2",
"hgnc_id": 16494,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.863T>C",
"hgvs_p": "p.Ile288Thr"
}
],
"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
}