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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: 11-3856279-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=3856279&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "STIM1",
"hgnc_id": 11386,
"hgvs_c": "c.5A>G",
"hgvs_p": "p.Tyr2Cys",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_001382569.1",
"verdict": "Benign"
},
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "MIR4687",
"hgnc_id": 41712,
"hgvs_c": "n.*138A>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -6,
"transcript": "NR_039835.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1",
"acmg_score": -10,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"chr": "11",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Combined immunodeficiency due to STIM1 deficiency,Myopathy with tubular aggregates,Stormorken syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6399999856948853,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 716,
"aa_ref": "V",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4168,
"cdna_start": 616,
"cds_end": null,
"cds_length": 2151,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001382567.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.9A>G",
"hgvs_p": "p.Val3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000526596.2",
"protein_coding": true,
"protein_id": "NP_001369496.1",
"strand": true,
"transcript": "NM_001382567.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 716,
"aa_ref": "V",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4168,
"cdna_start": 616,
"cds_end": null,
"cds_length": 2151,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000526596.2",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.9A>G",
"hgvs_p": "p.Val3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001382567.1",
"protein_coding": true,
"protein_id": "ENSP00000433266.2",
"strand": true,
"transcript": "ENST00000526596.2",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 791,
"aa_ref": "V",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4356,
"cdna_start": 577,
"cds_end": null,
"cds_length": 2376,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000616714.4",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.9A>G",
"hgvs_p": "p.Val3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478059.1",
"strand": true,
"transcript": "ENST00000616714.4",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 685,
"aa_ref": "V",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4038,
"cdna_start": 578,
"cds_end": null,
"cds_length": 2058,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000300737.8",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.9A>G",
"hgvs_p": "p.Val3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000300737.4",
"strand": true,
"transcript": "ENST00000300737.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 540,
"aa_ref": "V",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 98,
"cds_end": null,
"cds_length": 1623,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000527651.5",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.9A>G",
"hgvs_p": "p.Val3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436208.1",
"strand": true,
"transcript": "ENST00000527651.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 640,
"aa_ref": "Y",
"aa_start": 2,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3944,
"cdna_start": 616,
"cds_end": null,
"cds_length": 1923,
"cds_start": 5,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001382569.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.5A>G",
"hgvs_p": "p.Tyr2Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369498.1",
"strand": true,
"transcript": "NM_001382569.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 822,
"aa_ref": "V",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4493,
"cdna_start": 624,
"cds_end": null,
"cds_length": 2469,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000952119.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.9A>G",
"hgvs_p": "p.Val3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622178.1",
"strand": true,
"transcript": "ENST00000952119.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 791,
"aa_ref": "V",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4356,
"cdna_start": 577,
"cds_end": null,
"cds_length": 2376,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001277961.3",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.9A>G",
"hgvs_p": "p.Val3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001264890.1",
"strand": true,
"transcript": "NM_001277961.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 713,
"aa_ref": "V",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3712,
"cdna_start": 441,
"cds_end": null,
"cds_length": 2142,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000698915.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.9A>G",
"hgvs_p": "p.Val3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514029.1",
"strand": true,
"transcript": "ENST00000698915.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 692,
"aa_ref": "V",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4096,
"cdna_start": 616,
"cds_end": null,
"cds_length": 2079,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001382568.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.9A>G",
"hgvs_p": "p.Val3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369497.1",
"strand": true,
"transcript": "NM_001382568.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 692,
"aa_ref": "V",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3901,
"cdna_start": 441,
"cds_end": null,
"cds_length": 2079,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000698916.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.9A>G",
"hgvs_p": "p.Val3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514030.1",
"strand": true,
"transcript": "ENST00000698916.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 692,
"aa_ref": "V",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4100,
"cdna_start": 619,
"cds_end": null,
"cds_length": 2079,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 1,
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"feature": "ENST00000862622.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.9A>G",
"hgvs_p": "p.Val3Val",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532681.1",
"strand": true,
"transcript": "ENST00000862622.1",
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},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4075,
"cdna_start": 616,
"cds_end": null,
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"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_003156.4",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.9A>G",
"hgvs_p": "p.Val3Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003147.2",
"strand": true,
"transcript": "NM_003156.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 609,
"aa_ref": "V",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3847,
"cdna_start": 616,
"cds_end": null,
"cds_length": 1830,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001382570.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.9A>G",
"hgvs_p": "p.Val3Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369499.1",
"strand": true,
"transcript": "NM_001382570.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 609,
"aa_ref": "V",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3816,
"cdna_start": 590,
"cds_end": null,
"cds_length": 1830,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000862623.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.9A>G",
"hgvs_p": "p.Val3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532682.1",
"strand": true,
"transcript": "ENST00000862623.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 540,
"aa_ref": "V",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4112,
"cdna_start": 616,
"cds_end": null,
"cds_length": 1623,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001277962.2",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.9A>G",
"hgvs_p": "p.Val3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001264891.1",
"strand": true,
"transcript": "NM_001277962.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 326,
"aa_ref": "V",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2420,
"cdna_start": 616,
"cds_end": null,
"cds_length": 981,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001382572.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.9A>G",
"hgvs_p": "p.Val3Val",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001369501.1",
"strand": true,
"transcript": "NM_001382572.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 326,
"aa_ref": "V",
"aa_start": 3,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2384,
"cdna_start": 580,
"cds_end": null,
"cds_length": 981,
"cds_start": 9,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000698914.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.9A>G",
"hgvs_p": "p.Val3Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514028.1",
"strand": true,
"transcript": "ENST00000698914.1",
"transcript_support_level": null
},
{
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"aa_end": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3832,
"cdna_start": null,
"cds_end": null,
"cds_length": 1578,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001382571.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.-229A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369500.1",
"strand": true,
"transcript": "NM_001382571.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 717,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3901,
"cdna_start": null,
"cds_end": null,
"cds_length": 2154,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382566.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.-84+863A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369495.1",
"strand": true,
"transcript": "NM_001382566.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 717,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3849,
"cdna_start": null,
"cds_end": null,
"cds_length": 2154,
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]
}