← 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: 11-3856290-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=3856290&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 3856290,
"ref": "T",
"alt": "C",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001382571.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.20T>C",
"hgvs_p": "p.Leu7Pro",
"transcript": "NM_001382567.1",
"protein_id": "NP_001369496.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 716,
"cds_start": 20,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000526596.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382567.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.20T>C",
"hgvs_p": "p.Leu7Pro",
"transcript": "ENST00000526596.2",
"protein_id": "ENSP00000433266.2",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 716,
"cds_start": 20,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001382567.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526596.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.20T>C",
"hgvs_p": "p.Leu7Pro",
"transcript": "ENST00000616714.4",
"protein_id": "ENSP00000478059.1",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 791,
"cds_start": 20,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616714.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.20T>C",
"hgvs_p": "p.Leu7Pro",
"transcript": "ENST00000300737.8",
"protein_id": "ENSP00000300737.4",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 685,
"cds_start": 20,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300737.8"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.20T>C",
"hgvs_p": "p.Leu7Pro",
"transcript": "ENST00000527651.5",
"protein_id": "ENSP00000436208.1",
"transcript_support_level": 1,
"aa_start": 7,
"aa_end": null,
"aa_length": 540,
"cds_start": 20,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527651.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.-218T>C",
"hgvs_p": null,
"transcript": "NM_001382571.1",
"protein_id": "NP_001369500.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": null,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382571.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.20T>C",
"hgvs_p": "p.Leu7Pro",
"transcript": "ENST00000952119.1",
"protein_id": "ENSP00000622178.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 822,
"cds_start": 20,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952119.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.20T>C",
"hgvs_p": "p.Leu7Pro",
"transcript": "NM_001277961.3",
"protein_id": "NP_001264890.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 791,
"cds_start": 20,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277961.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.20T>C",
"hgvs_p": "p.Leu7Pro",
"transcript": "ENST00000698915.1",
"protein_id": "ENSP00000514029.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 713,
"cds_start": 20,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698915.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.20T>C",
"hgvs_p": "p.Leu7Pro",
"transcript": "NM_001382568.1",
"protein_id": "NP_001369497.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 692,
"cds_start": 20,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382568.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.20T>C",
"hgvs_p": "p.Leu7Pro",
"transcript": "ENST00000698916.1",
"protein_id": "ENSP00000514030.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 692,
"cds_start": 20,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698916.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.20T>C",
"hgvs_p": "p.Leu7Pro",
"transcript": "ENST00000862622.1",
"protein_id": "ENSP00000532681.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 692,
"cds_start": 20,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862622.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.20T>C",
"hgvs_p": "p.Leu7Pro",
"transcript": "NM_003156.4",
"protein_id": "NP_003147.2",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 685,
"cds_start": 20,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003156.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.20T>C",
"hgvs_p": "p.Leu7Pro",
"transcript": "NM_001382570.1",
"protein_id": "NP_001369499.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 609,
"cds_start": 20,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382570.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.20T>C",
"hgvs_p": "p.Leu7Pro",
"transcript": "ENST00000862623.1",
"protein_id": "ENSP00000532682.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 609,
"cds_start": 20,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862623.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.20T>C",
"hgvs_p": "p.Leu7Pro",
"transcript": "NM_001277962.2",
"protein_id": "NP_001264891.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 540,
"cds_start": 20,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277962.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.20T>C",
"hgvs_p": "p.Leu7Pro",
"transcript": "NM_001382572.1",
"protein_id": "NP_001369501.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 326,
"cds_start": 20,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382572.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.20T>C",
"hgvs_p": "p.Leu7Pro",
"transcript": "ENST00000698914.1",
"protein_id": "ENSP00000514028.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 326,
"cds_start": 20,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698914.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.16T>C",
"hgvs_p": "p.Leu6Leu",
"transcript": "NM_001382569.1",
"protein_id": "NP_001369498.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 640,
"cds_start": 16,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382569.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.-218T>C",
"hgvs_p": null,
"transcript": "NM_001382571.1",
"protein_id": "NP_001369500.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": null,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382571.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.-84+874T>C",
"hgvs_p": null,
"transcript": "NM_001382566.1",
"protein_id": "NP_001369495.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 717,
"cds_start": null,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382566.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.-84+874T>C",
"hgvs_p": null,
"transcript": "ENST00000698911.1",
"protein_id": "ENSP00000514025.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 717,
"cds_start": null,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698911.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.-84+1554T>C",
"hgvs_p": null,
"transcript": "NM_001382575.1",
"protein_id": "NP_001369504.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 611,
"cds_start": null,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382575.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.-84+1636T>C",
"hgvs_p": null,
"transcript": "NM_001382576.1",
"protein_id": "NP_001369505.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 611,
"cds_start": null,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382576.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.-84+874T>C",
"hgvs_p": null,
"transcript": "NM_001382577.1",
"protein_id": "NP_001369506.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 611,
"cds_start": null,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382577.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.-84+874T>C",
"hgvs_p": null,
"transcript": "ENST00000698913.1",
"protein_id": "ENSP00000514027.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 611,
"cds_start": null,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698913.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.-220+1554T>C",
"hgvs_p": null,
"transcript": "NM_001382581.1",
"protein_id": "NP_001369510.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 522,
"cds_start": null,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382581.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.-220+1554T>C",
"hgvs_p": null,
"transcript": "ENST00000698910.1",
"protein_id": "ENSP00000514024.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 522,
"cds_start": null,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698910.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.-84+1554T>C",
"hgvs_p": null,
"transcript": "NM_001382578.1",
"protein_id": "NP_001369507.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": null,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382578.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.-84+874T>C",
"hgvs_p": null,
"transcript": "NM_001382579.1",
"protein_id": "NP_001369508.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": null,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382579.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.-84+1554T>C",
"hgvs_p": null,
"transcript": "ENST00000525403.6",
"protein_id": "ENSP00000432210.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": null,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525403.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.-84+874T>C",
"hgvs_p": null,
"transcript": "ENST00000698912.1",
"protein_id": "ENSP00000514026.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": null,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698912.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.-84+874T>C",
"hgvs_p": null,
"transcript": "NM_001382573.1",
"protein_id": "NP_001369502.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 419,
"cds_start": null,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382573.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.-220+1554T>C",
"hgvs_p": null,
"transcript": "NM_001382580.1",
"protein_id": "NP_001369509.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": null,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382580.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.-84+1554T>C",
"hgvs_p": null,
"transcript": "NM_001382574.1",
"protein_id": "NP_001369503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": null,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382574.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "n.619T>C",
"hgvs_p": null,
"transcript": "ENST00000533343.2",
"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": "ENST00000533343.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "n.259T>C",
"hgvs_p": null,
"transcript": "ENST00000698917.1",
"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": "retained_intron",
"feature": "ENST00000698917.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "n.20T>C",
"hgvs_p": null,
"transcript": "ENST00000698918.1",
"protein_id": "ENSP00000514031.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000698918.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "n.20T>C",
"hgvs_p": null,
"transcript": "ENST00000698919.1",
"protein_id": "ENSP00000514032.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000698919.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "n.627T>C",
"hgvs_p": null,
"transcript": "NR_168436.1",
"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_168436.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "n.627T>C",
"hgvs_p": null,
"transcript": "NR_168437.1",
"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_168437.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "n.627T>C",
"hgvs_p": null,
"transcript": "NR_168438.1",
"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_168438.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "n.186+1554T>C",
"hgvs_p": null,
"transcript": "ENST00000698909.1",
"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": "retained_intron",
"feature": "ENST00000698909.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR4687",
"gene_hgnc_id": 41712,
"hgvs_c": "n.*149T>C",
"hgvs_p": null,
"transcript": "ENST00000583618.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "miRNA",
"feature": "ENST00000583618.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR4687",
"gene_hgnc_id": 41712,
"hgvs_c": "n.*149T>C",
"hgvs_p": null,
"transcript": "NR_039835.1",
"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_039835.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR4687",
"gene_hgnc_id": 41712,
"hgvs_c": "n.*196T>C",
"hgvs_p": null,
"transcript": "unassigned_transcript_1825",
"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": "miRNA",
"feature": "unassigned_transcript_1825"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR4687",
"gene_hgnc_id": 41712,
"hgvs_c": "n.*157T>C",
"hgvs_p": null,
"transcript": "unassigned_transcript_1826",
"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": "miRNA",
"feature": "unassigned_transcript_1826"
}
],
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"dbsnp": null,
"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": 0.7159774303436279,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.42,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1223,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.616,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001382571.1",
"gene_symbol": "STIM1",
"hgnc_id": 11386,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.-218T>C",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NR_039835.1",
"gene_symbol": "MIR4687",
"hgnc_id": 41712,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*149T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Combined immunodeficiency due to STIM1 deficiency,Myopathy with tubular aggregates,Stormorken syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Myopathy with tubular aggregates;Combined immunodeficiency due to STIM1 deficiency;Stormorken syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}