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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: 11-4082294-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=4082294&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 17,
"criteria": [
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "STIM1",
"hgnc_id": 11386,
"hgvs_c": "c.1080A>G",
"hgvs_p": "p.Gln360Gln",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -17,
"transcript": "NM_001277961.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BP7,BA1",
"acmg_score": -17,
"allele_count_reference_population": 876842,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "11",
"clinvar_classification": "Benign",
"clinvar_disease": " 1, tubular aggregate,Combined immunodeficiency due to STIM1 deficiency,Myopathy,Myopathy with tubular aggregates,Stormorken syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:9 O:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.3720000088214874,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 716,
"aa_ref": "Q",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4168,
"cdna_start": 1687,
"cds_end": null,
"cds_length": 2151,
"cds_start": 1080,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001382567.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.1080A>G",
"hgvs_p": "p.Gln360Gln",
"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": "Q",
"aa_end": null,
"aa_length": 716,
"aa_ref": "Q",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4168,
"cdna_start": 1687,
"cds_end": null,
"cds_length": 2151,
"cds_start": 1080,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000526596.2",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.1080A>G",
"hgvs_p": "p.Gln360Gln",
"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": "Q",
"aa_end": null,
"aa_length": 791,
"aa_ref": "Q",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4356,
"cdna_start": 1648,
"cds_end": null,
"cds_length": 2376,
"cds_start": 1080,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000616714.4",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.1080A>G",
"hgvs_p": "p.Gln360Gln",
"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": "Q",
"aa_end": null,
"aa_length": 685,
"aa_ref": "Q",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4038,
"cdna_start": 1649,
"cds_end": null,
"cds_length": 2058,
"cds_start": 1080,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000300737.8",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.1080A>G",
"hgvs_p": "p.Gln360Gln",
"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": "Q",
"aa_end": null,
"aa_length": 540,
"aa_ref": "Q",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2184,
"cdna_start": 1169,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1080,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000527651.5",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.1080A>G",
"hgvs_p": "p.Gln360Gln",
"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": "Q",
"aa_end": null,
"aa_length": 512,
"aa_ref": "Q",
"aa_start": 187,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2080,
"cdna_start": 774,
"cds_end": null,
"cds_length": 1539,
"cds_start": 561,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000533977.5",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.561A>G",
"hgvs_p": "p.Gln187Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434767.1",
"strand": true,
"transcript": "ENST00000533977.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 822,
"aa_ref": "Q",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4493,
"cdna_start": 1695,
"cds_end": null,
"cds_length": 2469,
"cds_start": 1080,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000952119.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.1080A>G",
"hgvs_p": "p.Gln360Gln",
"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": "Q",
"aa_end": null,
"aa_length": 791,
"aa_ref": "Q",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4356,
"cdna_start": 1648,
"cds_end": null,
"cds_length": 2376,
"cds_start": 1080,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001277961.3",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.1080A>G",
"hgvs_p": "p.Gln360Gln",
"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": "Q",
"aa_end": null,
"aa_length": 717,
"aa_ref": "Q",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3901,
"cdna_start": 1195,
"cds_end": null,
"cds_length": 2154,
"cds_start": 858,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001382566.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.858A>G",
"hgvs_p": "p.Gln286Gln",
"intron_rank": null,
"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": "Q",
"aa_end": null,
"aa_length": 717,
"aa_ref": "Q",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3849,
"cdna_start": 1165,
"cds_end": null,
"cds_length": 2154,
"cds_start": 858,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000698911.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.858A>G",
"hgvs_p": "p.Gln286Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514025.1",
"strand": true,
"transcript": "ENST00000698911.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 713,
"aa_ref": "Q",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3712,
"cdna_start": 1512,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1080,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000698915.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.1080A>G",
"hgvs_p": "p.Gln360Gln",
"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": "Q",
"aa_end": null,
"aa_length": 692,
"aa_ref": "Q",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4096,
"cdna_start": 1687,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1080,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001382568.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.1080A>G",
"hgvs_p": "p.Gln360Gln",
"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": "Q",
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"aa_length": 692,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3901,
"cdna_start": 1512,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1080,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000698916.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.1080A>G",
"hgvs_p": "p.Gln360Gln",
"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": "Q",
"aa_end": null,
"aa_length": 692,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4100,
"cdna_start": 1690,
"cds_end": null,
"cds_length": 2079,
"cds_start": 1080,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000862622.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.1080A>G",
"hgvs_p": "p.Gln360Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532681.1",
"strand": true,
"transcript": "ENST00000862622.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 685,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4075,
"cdna_start": 1687,
"cds_end": null,
"cds_length": 2058,
"cds_start": 1080,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_003156.4",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.1080A>G",
"hgvs_p": "p.Gln360Gln",
"intron_rank": null,
"intron_rank_end": null,
"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": "Q",
"aa_end": null,
"aa_length": 640,
"aa_ref": "Q",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3944,
"cdna_start": 1556,
"cds_end": null,
"cds_length": 1923,
"cds_start": 945,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001382569.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.945A>G",
"hgvs_p": "p.Gln315Gln",
"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": "Q",
"aa_end": null,
"aa_length": 611,
"aa_ref": "Q",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3462,
"cdna_start": 1074,
"cds_end": null,
"cds_length": 1836,
"cds_start": 858,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001382575.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.858A>G",
"hgvs_p": "p.Gln286Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369504.1",
"strand": true,
"transcript": "NM_001382575.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 611,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3380,
"cdna_start": 992,
"cds_end": null,
"cds_length": 1836,
"cds_start": 858,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001382576.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.858A>G",
"hgvs_p": "p.Gln286Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369505.1",
"strand": true,
"transcript": "NM_001382576.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 611,
"aa_ref": "Q",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3583,
"cdna_start": 1195,
"cds_end": null,
"cds_length": 1836,
"cds_start": 858,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001382577.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.858A>G",
"hgvs_p": "p.Gln286Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369506.1",
"strand": true,
"transcript": "NM_001382577.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 611,
"aa_ref": "Q",
"aa_start": 286,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3535,
"cdna_start": 1165,
"cds_end": null,
"cds_length": 1836,
"cds_start": 858,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000698913.1",
"gene_hgnc_id": 11386,
"gene_symbol": "STIM1",
"hgvs_c": "c.858A>G",
"hgvs_p": "p.Gln286Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514027.1",
"strand": true,
"transcript": "ENST00000698913.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 609,
"aa_ref": "Q",
"aa_start": 284,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3847,
"cdna_start": 1459,
"cds_end": null,
"cds_length": 1830,
"cds_start": 852,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
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"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not specified|Myopathy with tubular aggregates;Stormorken syndrome;Combined immunodeficiency due to STIM1 deficiency|Myopathy, tubular aggregate, 1|not provided|Stormorken syndrome|Combined immunodeficiency due to STIM1 deficiency",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.856,
"pos": 4082294,
"ref": "A",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.372,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001277961.3"
}
]
}