← 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: 11-3967651-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=3967651&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 3967651,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000526596.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.239A>C",
"hgvs_p": "p.Asn80Thr",
"transcript": "NM_001382567.1",
"protein_id": "NP_001369496.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 716,
"cds_start": 239,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": "ENST00000526596.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.239A>C",
"hgvs_p": "p.Asn80Thr",
"transcript": "ENST00000526596.2",
"protein_id": "ENSP00000433266.2",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 716,
"cds_start": 239,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": "NM_001382567.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.239A>C",
"hgvs_p": "p.Asn80Thr",
"transcript": "ENST00000616714.4",
"protein_id": "ENSP00000478059.1",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 791,
"cds_start": 239,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 4356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.239A>C",
"hgvs_p": "p.Asn80Thr",
"transcript": "ENST00000300737.8",
"protein_id": "ENSP00000300737.4",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 685,
"cds_start": 239,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.239A>C",
"hgvs_p": "p.Asn80Thr",
"transcript": "ENST00000527651.5",
"protein_id": "ENSP00000436208.1",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 540,
"cds_start": 239,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.239A>C",
"hgvs_p": "p.Asn80Thr",
"transcript": "NM_001277961.3",
"protein_id": "NP_001264890.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 791,
"cds_start": 239,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 807,
"cdna_end": null,
"cdna_length": 4356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.17A>C",
"hgvs_p": "p.Asn6Thr",
"transcript": "NM_001382566.1",
"protein_id": "NP_001369495.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 717,
"cds_start": 17,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.17A>C",
"hgvs_p": "p.Asn6Thr",
"transcript": "ENST00000698911.1",
"protein_id": "ENSP00000514025.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 717,
"cds_start": 17,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 3849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.239A>C",
"hgvs_p": "p.Asn80Thr",
"transcript": "ENST00000698915.1",
"protein_id": "ENSP00000514029.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 713,
"cds_start": 239,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.239A>C",
"hgvs_p": "p.Asn80Thr",
"transcript": "NM_001382568.1",
"protein_id": "NP_001369497.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 692,
"cds_start": 239,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.239A>C",
"hgvs_p": "p.Asn80Thr",
"transcript": "ENST00000698916.1",
"protein_id": "ENSP00000514030.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 692,
"cds_start": 239,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.239A>C",
"hgvs_p": "p.Asn80Thr",
"transcript": "NM_003156.4",
"protein_id": "NP_003147.2",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 685,
"cds_start": 239,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.17A>C",
"hgvs_p": "p.Asn6Thr",
"transcript": "NM_001382575.1",
"protein_id": "NP_001369504.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 611,
"cds_start": 17,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.17A>C",
"hgvs_p": "p.Asn6Thr",
"transcript": "NM_001382576.1",
"protein_id": "NP_001369505.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 611,
"cds_start": 17,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 151,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.17A>C",
"hgvs_p": "p.Asn6Thr",
"transcript": "NM_001382577.1",
"protein_id": "NP_001369506.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 611,
"cds_start": 17,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.17A>C",
"hgvs_p": "p.Asn6Thr",
"transcript": "ENST00000698913.1",
"protein_id": "ENSP00000514027.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 611,
"cds_start": 17,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.239A>C",
"hgvs_p": "p.Asn80Thr",
"transcript": "NM_001382570.1",
"protein_id": "NP_001369499.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 609,
"cds_start": 239,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 3847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.239A>C",
"hgvs_p": "p.Asn80Thr",
"transcript": "NM_001277962.2",
"protein_id": "NP_001264891.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 540,
"cds_start": 239,
"cds_end": null,
"cds_length": 1623,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.17A>C",
"hgvs_p": "p.Asn6Thr",
"transcript": "NM_001382578.1",
"protein_id": "NP_001369507.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 466,
"cds_start": 17,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 3499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.17A>C",
"hgvs_p": "p.Asn6Thr",
"transcript": "NM_001382579.1",
"protein_id": "NP_001369508.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 466,
"cds_start": 17,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 3620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.17A>C",
"hgvs_p": "p.Asn6Thr",
"transcript": "ENST00000525403.6",
"protein_id": "ENSP00000432210.2",
"transcript_support_level": 4,
"aa_start": 6,
"aa_end": null,
"aa_length": 466,
"cds_start": 17,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 3556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.17A>C",
"hgvs_p": "p.Asn6Thr",
"transcript": "ENST00000698912.1",
"protein_id": "ENSP00000514026.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 466,
"cds_start": 17,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 324,
"cdna_end": null,
"cdna_length": 3570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.17A>C",
"hgvs_p": "p.Asn6Thr",
"transcript": "NM_001382573.1",
"protein_id": "NP_001369502.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 419,
"cds_start": 17,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 1746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.239A>C",
"hgvs_p": "p.Asn80Thr",
"transcript": "NM_001382572.1",
"protein_id": "NP_001369501.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 326,
"cds_start": 239,
"cds_end": null,
"cds_length": 981,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 2420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.239A>C",
"hgvs_p": "p.Asn80Thr",
"transcript": "ENST00000698914.1",
"protein_id": "ENSP00000514028.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 326,
"cds_start": 239,
"cds_end": null,
"cds_length": 981,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 2384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.17A>C",
"hgvs_p": "p.Asn6Thr",
"transcript": "NM_001382574.1",
"protein_id": "NP_001369503.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 252,
"cds_start": 17,
"cds_end": null,
"cds_length": 759,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.17A>C",
"hgvs_p": "p.Asn6Thr",
"transcript": "ENST00000532919.5",
"protein_id": "ENSP00000433949.1",
"transcript_support_level": 4,
"aa_start": 6,
"aa_end": null,
"aa_length": 138,
"cds_start": 17,
"cds_end": null,
"cds_length": 418,
"cdna_start": 179,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.17A>C",
"hgvs_p": "p.Asn6Thr",
"transcript": "ENST00000532610.5",
"protein_id": "ENSP00000434848.1",
"transcript_support_level": 4,
"aa_start": 6,
"aa_end": null,
"aa_length": 131,
"cds_start": 17,
"cds_end": null,
"cds_length": 398,
"cdna_start": 143,
"cdna_end": null,
"cdna_length": 524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.17A>C",
"hgvs_p": "p.Asn6Thr",
"transcript": "ENST00000528656.5",
"protein_id": "ENSP00000432378.1",
"transcript_support_level": 4,
"aa_start": 6,
"aa_end": null,
"aa_length": 116,
"cds_start": 17,
"cds_end": null,
"cds_length": 351,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.17A>C",
"hgvs_p": "p.Asn6Thr",
"transcript": "ENST00000525055.5",
"protein_id": "ENSP00000431191.1",
"transcript_support_level": 4,
"aa_start": 6,
"aa_end": null,
"aa_length": 81,
"cds_start": 17,
"cds_end": null,
"cds_length": 248,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.17A>C",
"hgvs_p": "p.Asn6Thr",
"transcript": "ENST00000530554.5",
"protein_id": "ENSP00000431878.1",
"transcript_support_level": 4,
"aa_start": 6,
"aa_end": null,
"aa_length": 79,
"cds_start": 17,
"cds_end": null,
"cds_length": 242,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.17A>C",
"hgvs_p": "p.Asn6Thr",
"transcript": "ENST00000532990.1",
"protein_id": "ENSP00000432383.1",
"transcript_support_level": 3,
"aa_start": 6,
"aa_end": null,
"aa_length": 66,
"cds_start": 17,
"cds_end": null,
"cds_length": 203,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.17A>C",
"hgvs_p": "p.Asn6Thr",
"transcript": "ENST00000524822.5",
"protein_id": "ENSP00000434200.1",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 53,
"cds_start": 17,
"cds_end": null,
"cds_length": 163,
"cdna_start": 269,
"cdna_end": null,
"cdna_length": 415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "n.838A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "n.286A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "n.478A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "n.239A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "n.846A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "n.846A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "n.846A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.136-56222A>C",
"hgvs_p": null,
"transcript": "NM_001382569.1",
"protein_id": "NP_001369498.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 640,
"cds_start": -4,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.-98-56222A>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": -4,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.-219-56222A>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": -4,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.-219-56222A>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": -4,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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.-219-56222A>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": -4,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "n.140-56222A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"dbsnp": "rs748277951",
"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": 0.7011551856994629,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.802,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7553,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.89,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM1",
"PM2",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000526596.2",
"gene_symbol": "STIM1",
"hgnc_id": 11386,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.239A>C",
"hgvs_p": "p.Asn80Thr"
}
],
"clinvar_disease": " 1, tubular aggregate,Combined immunodeficiency due to STIM1 deficiency,Myopathy,Myopathy with tubular aggregates,Stormorken syndrome",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Myopathy, tubular aggregate, 1|Combined immunodeficiency due to STIM1 deficiency;Stormorken syndrome;Myopathy with tubular aggregates",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}