← 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: 5-132823005-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132823005&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 132823005,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001172700.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "NM_001172700.2",
"protein_id": "NP_001166171.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378679.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172700.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000378679.8",
"protein_id": "ENSP00000367950.3",
"transcript_support_level": 1,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001172700.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378679.8"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2335G>C",
"hgvs_p": "p.Glu779Gln",
"transcript": "ENST00000319854.7",
"protein_id": "ENSP00000324245.3",
"transcript_support_level": 1,
"aa_start": 779,
"aa_end": null,
"aa_length": 847,
"cds_start": 2335,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319854.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000617339.4",
"protein_id": "ENSP00000478436.1",
"transcript_support_level": 5,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617339.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000891704.1",
"protein_id": "ENSP00000561763.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891704.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000891705.1",
"protein_id": "ENSP00000561764.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891705.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000891706.1",
"protein_id": "ENSP00000561765.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891706.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000891707.1",
"protein_id": "ENSP00000561766.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891707.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000891708.1",
"protein_id": "ENSP00000561767.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891708.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000891710.1",
"protein_id": "ENSP00000561769.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891710.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000891711.1",
"protein_id": "ENSP00000561770.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891711.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000891712.1",
"protein_id": "ENSP00000561771.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891712.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000891713.1",
"protein_id": "ENSP00000561772.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891713.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000891714.1",
"protein_id": "ENSP00000561773.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891714.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000891715.1",
"protein_id": "ENSP00000561774.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891715.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000891716.1",
"protein_id": "ENSP00000561775.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891716.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000891717.1",
"protein_id": "ENSP00000561776.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891717.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000924501.1",
"protein_id": "ENSP00000594560.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924501.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000924502.1",
"protein_id": "ENSP00000594561.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924502.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000949960.1",
"protein_id": "ENSP00000620019.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949960.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000949961.1",
"protein_id": "ENSP00000620020.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949961.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000949962.1",
"protein_id": "ENSP00000620021.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949962.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000949963.1",
"protein_id": "ENSP00000620022.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949963.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000949964.1",
"protein_id": "ENSP00000620023.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949964.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000949966.1",
"protein_id": "ENSP00000620025.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949966.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000949967.1",
"protein_id": "ENSP00000620026.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949967.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000949968.1",
"protein_id": "ENSP00000620027.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949968.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000949969.1",
"protein_id": "ENSP00000620028.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949969.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000949970.1",
"protein_id": "ENSP00000620029.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949970.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000949971.1",
"protein_id": "ENSP00000620030.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949971.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000949972.1",
"protein_id": "ENSP00000620031.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949972.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000949973.1",
"protein_id": "ENSP00000620032.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949973.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000949974.1",
"protein_id": "ENSP00000620033.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949974.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "ENST00000949975.1",
"protein_id": "ENSP00000620034.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949975.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2335G>C",
"hgvs_p": "p.Glu779Gln",
"transcript": "NM_133456.3",
"protein_id": "NP_597713.2",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 847,
"cds_start": 2335,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133456.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2335G>C",
"hgvs_p": "p.Glu779Gln",
"transcript": "ENST00000891709.1",
"protein_id": "ENSP00000561768.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 847,
"cds_start": 2335,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891709.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2335G>C",
"hgvs_p": "p.Glu779Gln",
"transcript": "ENST00000949965.1",
"protein_id": "ENSP00000620024.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 847,
"cds_start": 2335,
"cds_end": null,
"cds_length": 2544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949965.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2143G>C",
"hgvs_p": "p.Glu715Gln",
"transcript": "NM_001410779.1",
"protein_id": "NP_001397708.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 783,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410779.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"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": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2143G>C",
"hgvs_p": "p.Glu715Gln",
"transcript": "ENST00000378676.1",
"protein_id": "ENSP00000367947.1",
"transcript_support_level": 5,
"aa_start": 715,
"aa_end": null,
"aa_length": 783,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378676.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "XM_005271885.5",
"protein_id": "XP_005271942.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271885.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "XM_005271886.4",
"protein_id": "XP_005271943.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005271886.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "XM_047416730.1",
"protein_id": "XP_047272686.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416730.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "XM_047416731.1",
"protein_id": "XP_047272687.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416731.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln",
"transcript": "XM_047416732.1",
"protein_id": "XP_047272688.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 852,
"cds_start": 2350,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416732.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"hgvs_c": "c.2143G>C",
"hgvs_p": "p.Glu715Gln",
"transcript": "XM_047416733.1",
"protein_id": "XP_047272689.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 783,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416733.1"
}
],
"gene_symbol": "SHROOM1",
"gene_hgnc_id": 24084,
"dbsnp": "rs953659192",
"frequency_reference_population": 0.0000012460764,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.88321e-7,
"gnomad_genomes_af": 0.00000656909,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24002715945243835,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.108,
"revel_prediction": "Benign",
"alphamissense_score": 0.1108,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.355,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001172700.2",
"gene_symbol": "SHROOM1",
"hgnc_id": 24084,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2350G>C",
"hgvs_p": "p.Glu784Gln"
}
],
"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
}