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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 11-4091365-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=4091365&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 4091365,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000526596.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1718G>A",
"hgvs_p": "p.Arg573His",
"transcript": "NM_001382567.1",
"protein_id": "NP_001369496.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 716,
"cds_start": 1718,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": "ENST00000526596.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1718G>A",
"hgvs_p": "p.Arg573His",
"transcript": "ENST00000526596.2",
"protein_id": "ENSP00000433266.2",
"transcript_support_level": 5,
"aa_start": 573,
"aa_end": null,
"aa_length": 716,
"cds_start": 1718,
"cds_end": null,
"cds_length": 2151,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 4168,
"mane_select": "NM_001382567.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1943G>A",
"hgvs_p": "p.Arg648His",
"transcript": "ENST00000616714.4",
"protein_id": "ENSP00000478059.1",
"transcript_support_level": 1,
"aa_start": 648,
"aa_end": null,
"aa_length": 791,
"cds_start": 1943,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2511,
"cdna_end": null,
"cdna_length": 4356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542His",
"transcript": "ENST00000300737.8",
"protein_id": "ENSP00000300737.4",
"transcript_support_level": 1,
"aa_start": 542,
"aa_end": null,
"aa_length": 685,
"cds_start": 1625,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1106G>A",
"hgvs_p": "p.Arg369His",
"transcript": "ENST00000533977.5",
"protein_id": "ENSP00000434767.1",
"transcript_support_level": 1,
"aa_start": 369,
"aa_end": null,
"aa_length": 512,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1319,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.*39G>A",
"hgvs_p": null,
"transcript": "ENST00000527651.5",
"protein_id": "ENSP00000436208.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": -4,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1943G>A",
"hgvs_p": "p.Arg648His",
"transcript": "NM_001277961.3",
"protein_id": "NP_001264890.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 791,
"cds_start": 1943,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2511,
"cdna_end": null,
"cdna_length": 4356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1721G>A",
"hgvs_p": "p.Arg574His",
"transcript": "NM_001382566.1",
"protein_id": "NP_001369495.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 717,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1721G>A",
"hgvs_p": "p.Arg574His",
"transcript": "ENST00000698911.1",
"protein_id": "ENSP00000514025.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 717,
"cds_start": 1721,
"cds_end": null,
"cds_length": 2154,
"cdna_start": 2028,
"cdna_end": null,
"cdna_length": 3849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1709G>A",
"hgvs_p": "p.Arg570His",
"transcript": "ENST00000698915.1",
"protein_id": "ENSP00000514029.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 713,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 3712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1646G>A",
"hgvs_p": "p.Arg549His",
"transcript": "NM_001382568.1",
"protein_id": "NP_001369497.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 692,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2253,
"cdna_end": null,
"cdna_length": 4096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1646G>A",
"hgvs_p": "p.Arg549His",
"transcript": "ENST00000698916.1",
"protein_id": "ENSP00000514030.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 692,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 2078,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1625G>A",
"hgvs_p": "p.Arg542His",
"transcript": "NM_003156.4",
"protein_id": "NP_003147.2",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 685,
"cds_start": 1625,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 2232,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1490G>A",
"hgvs_p": "p.Arg497His",
"transcript": "NM_001382569.1",
"protein_id": "NP_001369498.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 640,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 2101,
"cdna_end": null,
"cdna_length": 3944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Arg468His",
"transcript": "NM_001382575.1",
"protein_id": "NP_001369504.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 611,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 3462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Arg468His",
"transcript": "NM_001382576.1",
"protein_id": "NP_001369505.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 611,
"cds_start": 1403,
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"cdna_start": 1537,
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"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Arg468His",
"transcript": "NM_001382577.1",
"protein_id": "NP_001369506.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 611,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1403G>A",
"hgvs_p": "p.Arg468His",
"transcript": "ENST00000698913.1",
"protein_id": "ENSP00000514027.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 611,
"cds_start": 1403,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1397G>A",
"hgvs_p": "p.Arg466His",
"transcript": "NM_001382570.1",
"protein_id": "NP_001369499.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 609,
"cds_start": 1397,
"cds_end": null,
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"cdna_start": 2004,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1145G>A",
"hgvs_p": "p.Arg382His",
"transcript": "NM_001382571.1",
"protein_id": "NP_001369500.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 525,
"cds_start": 1145,
"cds_end": null,
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"cdna_start": 1989,
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"cdna_length": 3832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "NM_001382581.1",
"protein_id": "NP_001369510.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 522,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 3331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIM1",
"gene_hgnc_id": 11386,
"hgvs_c": "c.1136G>A",
"hgvs_p": "p.Arg379His",
"transcript": "ENST00000698910.1",
"protein_id": "ENSP00000514024.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 522,
"cds_start": 1136,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1431,
"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": 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.423G>A",
"hgvs_p": null,
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"phylop100way_prediction": "Benign",
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{
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],
"clinvar_disease": "Combined immunodeficiency due to STIM1 deficiency,Myopathy with tubular aggregates,Stormorken syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Myopathy with tubular aggregates;Combined immunodeficiency due to STIM1 deficiency;Stormorken syndrome|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}