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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: 11-66689815-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66689815&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66689815,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000533211.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.5939C>A",
"hgvs_p": "p.Ala1980Glu",
"transcript": "NM_006946.4",
"protein_id": "NP_008877.2",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2390,
"cds_start": 5939,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 6528,
"cdna_end": null,
"cdna_length": 11136,
"mane_select": "ENST00000533211.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.5939C>A",
"hgvs_p": "p.Ala1980Glu",
"transcript": "ENST00000533211.6",
"protein_id": "ENSP00000432568.1",
"transcript_support_level": 5,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2390,
"cds_start": 5939,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 6528,
"cdna_end": null,
"cdna_length": 11136,
"mane_select": "NM_006946.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.5939C>A",
"hgvs_p": "p.Ala1980Glu",
"transcript": "ENST00000309996.7",
"protein_id": "ENSP00000311489.2",
"transcript_support_level": 1,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2390,
"cds_start": 5939,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 6447,
"cdna_end": null,
"cdna_length": 7681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.5960C>A",
"hgvs_p": "p.Ala1987Glu",
"transcript": "NM_001411025.1",
"protein_id": "NP_001397954.1",
"transcript_support_level": null,
"aa_start": 1987,
"aa_end": null,
"aa_length": 2397,
"cds_start": 5960,
"cds_end": null,
"cds_length": 7194,
"cdna_start": 6203,
"cdna_end": null,
"cdna_length": 10811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.5960C>A",
"hgvs_p": "p.Ala1987Glu",
"transcript": "ENST00000617502.5",
"protein_id": "ENSP00000482000.2",
"transcript_support_level": 5,
"aa_start": 1987,
"aa_end": null,
"aa_length": 2397,
"cds_start": 5960,
"cds_end": null,
"cds_length": 7194,
"cdna_start": 6212,
"cdna_end": null,
"cdna_length": 7446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.5939C>A",
"hgvs_p": "p.Ala1980Glu",
"transcript": "NM_001437541.1",
"protein_id": "NP_001424470.1",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2390,
"cds_start": 5939,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 6437,
"cdna_end": null,
"cdna_length": 11045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.5939C>A",
"hgvs_p": "p.Ala1980Glu",
"transcript": "ENST00000611817.5",
"protein_id": "ENSP00000480692.2",
"transcript_support_level": 2,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2390,
"cds_start": 5939,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 6542,
"cdna_end": null,
"cdna_length": 7776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.5939C>A",
"hgvs_p": "p.Ala1980Glu",
"transcript": "ENST00000713738.1",
"protein_id": "ENSP00000519042.1",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2390,
"cds_start": 5939,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 6442,
"cdna_end": null,
"cdna_length": 11051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.5939C>A",
"hgvs_p": "p.Ala1980Glu",
"transcript": "ENST00000529997.5",
"protein_id": "ENSP00000433593.1",
"transcript_support_level": 5,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2365,
"cds_start": 5939,
"cds_end": null,
"cds_length": 7098,
"cdna_start": 5939,
"cdna_end": null,
"cdna_length": 8085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.5939C>A",
"hgvs_p": "p.Ala1980Glu",
"transcript": "ENST00000713741.1",
"protein_id": "ENSP00000519045.1",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2361,
"cds_start": 5939,
"cds_end": null,
"cds_length": 7086,
"cdna_start": 6389,
"cdna_end": null,
"cdna_length": 8153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.5564C>A",
"hgvs_p": "p.Ala1855Glu",
"transcript": "ENST00000713739.1",
"protein_id": "ENSP00000519043.1",
"transcript_support_level": null,
"aa_start": 1855,
"aa_end": null,
"aa_length": 2265,
"cds_start": 5564,
"cds_end": null,
"cds_length": 6798,
"cdna_start": 5564,
"cdna_end": null,
"cdna_length": 7417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.5492C>A",
"hgvs_p": "p.Ala1831Glu",
"transcript": "ENST00000713742.1",
"protein_id": "ENSP00000519046.1",
"transcript_support_level": null,
"aa_start": 1831,
"aa_end": null,
"aa_length": 2241,
"cds_start": 5492,
"cds_end": null,
"cds_length": 6726,
"cdna_start": 5945,
"cdna_end": null,
"cdna_length": 7395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4313C>A",
"hgvs_p": "p.Ala1438Glu",
"transcript": "ENST00000713740.1",
"protein_id": "ENSP00000519044.1",
"transcript_support_level": null,
"aa_start": 1438,
"aa_end": null,
"aa_length": 1848,
"cds_start": 4313,
"cds_end": null,
"cds_length": 5547,
"cdna_start": 4313,
"cdna_end": null,
"cdna_length": 6164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.5939C>A",
"hgvs_p": "p.Ala1980Glu",
"transcript": "XM_006718671.5",
"protein_id": "XP_006718734.1",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2390,
"cds_start": 5939,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 6167,
"cdna_end": null,
"cdna_length": 10775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.5939C>A",
"hgvs_p": "p.Ala1980Glu",
"transcript": "XM_017018174.2",
"protein_id": "XP_016873663.1",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2390,
"cds_start": 5939,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 6620,
"cdna_end": null,
"cdna_length": 11228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.5939C>A",
"hgvs_p": "p.Ala1980Glu",
"transcript": "XM_017018175.3",
"protein_id": "XP_016873664.1",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2390,
"cds_start": 5939,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 6181,
"cdna_end": null,
"cdna_length": 10789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.5939C>A",
"hgvs_p": "p.Ala1980Glu",
"transcript": "XM_017018176.2",
"protein_id": "XP_016873665.1",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2390,
"cds_start": 5939,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 6210,
"cdna_end": null,
"cdna_length": 10818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.5939C>A",
"hgvs_p": "p.Ala1980Glu",
"transcript": "XM_017018177.3",
"protein_id": "XP_016873666.1",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2390,
"cds_start": 5939,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 6090,
"cdna_end": null,
"cdna_length": 10698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.5939C>A",
"hgvs_p": "p.Ala1980Glu",
"transcript": "XM_017018178.2",
"protein_id": "XP_016873667.1",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2390,
"cds_start": 5939,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 6076,
"cdna_end": null,
"cdna_length": 10684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.5939C>A",
"hgvs_p": "p.Ala1980Glu",
"transcript": "XM_047427488.1",
"protein_id": "XP_047283444.1",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2390,
"cds_start": 5939,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 6302,
"cdna_end": null,
"cdna_length": 10910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.5939C>A",
"hgvs_p": "p.Ala1980Glu",
"transcript": "XM_047427489.1",
"protein_id": "XP_047283445.1",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2390,
"cds_start": 5939,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 6259,
"cdna_end": null,
"cdna_length": 10867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.5939C>A",
"hgvs_p": "p.Ala1980Glu",
"transcript": "XM_047427490.1",
"protein_id": "XP_047283446.1",
"transcript_support_level": null,
"aa_start": 1980,
"aa_end": null,
"aa_length": 2390,
"cds_start": 5939,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 7951,
"cdna_end": null,
"cdna_length": 12559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
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],
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"dbsnp": "rs750934185",
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"computational_score_selected": 0.571100652217865,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.366,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4629,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.816,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000533211.6",
"gene_symbol": "SPTBN2",
"hgnc_id": 11276,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.5939C>A",
"hgvs_p": "p.Ala1980Glu"
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],
"clinvar_disease": "Autosomal recessive spinocerebellar ataxia 14,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Autosomal recessive spinocerebellar ataxia 14",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}