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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: 13-23355239-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=23355239&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 23355239,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000382292.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.1373C>T",
"hgvs_p": "p.Thr458Ile",
"transcript": "NM_014363.6",
"protein_id": "NP_055178.3",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 4579,
"cds_start": 1373,
"cds_end": null,
"cds_length": 13740,
"cdna_start": 1962,
"cdna_end": null,
"cdna_length": 15635,
"mane_select": "ENST00000382292.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.1373C>T",
"hgvs_p": "p.Thr458Ile",
"transcript": "ENST00000382292.9",
"protein_id": "ENSP00000371729.3",
"transcript_support_level": 5,
"aa_start": 458,
"aa_end": null,
"aa_length": 4579,
"cds_start": 1373,
"cds_end": null,
"cds_length": 13740,
"cdna_start": 1962,
"cdna_end": null,
"cdna_length": 15635,
"mane_select": "NM_014363.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.1373C>T",
"hgvs_p": "p.Thr458Ile",
"transcript": "ENST00000455470.6",
"protein_id": "ENSP00000406565.2",
"transcript_support_level": 1,
"aa_start": 458,
"aa_end": null,
"aa_length": 832,
"cds_start": 1373,
"cds_end": null,
"cds_length": 2499,
"cdna_start": 1961,
"cdna_end": null,
"cdna_length": 3674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.1373C>T",
"hgvs_p": "p.Thr458Ile",
"transcript": "NM_001437336.1",
"protein_id": "NP_001424265.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 4588,
"cds_start": 1373,
"cds_end": null,
"cds_length": 13767,
"cdna_start": 1962,
"cdna_end": null,
"cdna_length": 15662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.1373C>T",
"hgvs_p": "p.Thr458Ile",
"transcript": "ENST00000682944.1",
"protein_id": "ENSP00000507173.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 4588,
"cds_start": 1373,
"cds_end": null,
"cds_length": 13767,
"cdna_start": 2012,
"cdna_end": null,
"cdna_length": 15712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.932C>T",
"hgvs_p": "p.Thr311Ile",
"transcript": "NM_001278055.2",
"protein_id": "NP_001264984.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 4432,
"cds_start": 932,
"cds_end": null,
"cds_length": 13299,
"cdna_start": 1422,
"cdna_end": null,
"cdna_length": 15095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.1364C>T",
"hgvs_p": "p.Thr455Ile",
"transcript": "ENST00000683270.1",
"protein_id": "ENSP00000507624.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 2170,
"cds_start": 1364,
"cds_end": null,
"cds_length": 6513,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 7009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.1373C>T",
"hgvs_p": "p.Thr458Ile",
"transcript": "ENST00000684385.1",
"protein_id": "ENSP00000507855.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 830,
"cds_start": 1373,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2012,
"cdna_end": null,
"cdna_length": 3321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.1373C>T",
"hgvs_p": "p.Thr458Ile",
"transcript": "ENST00000683680.1",
"protein_id": "ENSP00000507223.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 772,
"cds_start": 1373,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2012,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.1373C>T",
"hgvs_p": "p.Thr458Ile",
"transcript": "ENST00000683489.1",
"protein_id": "ENSP00000508403.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 763,
"cds_start": 1373,
"cds_end": null,
"cds_length": 2292,
"cdna_start": 2012,
"cdna_end": null,
"cdna_length": 3954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.1364C>T",
"hgvs_p": "p.Thr455Ile",
"transcript": "ENST00000684163.1",
"protein_id": "ENSP00000508262.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 756,
"cds_start": 1364,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 1516,
"cdna_end": null,
"cdna_length": 2853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.1373C>T",
"hgvs_p": "p.Thr458Ile",
"transcript": "ENST00000423156.2",
"protein_id": "ENSP00000390925.2",
"transcript_support_level": 2,
"aa_start": 458,
"aa_end": null,
"aa_length": 750,
"cds_start": 1373,
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"cds_length": 2253,
"cdna_start": 2000,
"cdna_end": null,
"cdna_length": 3464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.1364C>T",
"hgvs_p": "p.Thr455Ile",
"transcript": "ENST00000683367.1",
"protein_id": "ENSP00000507780.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 747,
"cds_start": 1364,
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"cds_length": 2244,
"cdna_start": 1602,
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"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.1373C>T",
"hgvs_p": "p.Thr458Ile",
"transcript": "ENST00000682775.1",
"protein_id": "ENSP00000508399.1",
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"cdna_start": 2012,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.1373C>T",
"hgvs_p": "p.Thr458Ile",
"transcript": "ENST00000683210.1",
"protein_id": "ENSP00000506739.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 738,
"cds_start": 1373,
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"cds_length": 2217,
"cdna_start": 2012,
"cdna_end": null,
"cdna_length": 3379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.1373C>T",
"hgvs_p": "p.Thr458Ile",
"transcript": "ENST00000684497.1",
"protein_id": "ENSP00000507057.1",
"transcript_support_level": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.1397C>T",
"hgvs_p": "p.Thr466Ile",
"transcript": "XM_047430254.1",
"protein_id": "XP_047286210.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 4596,
"cds_start": 1397,
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"cdna_start": 1434,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.1373C>T",
"hgvs_p": "p.Thr458Ile",
"transcript": "XM_024449337.2",
"protein_id": "XP_024305105.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 4588,
"cds_start": 1373,
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"cdna_start": 2183,
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"cdna_length": 15883,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.1397C>T",
"hgvs_p": "p.Thr466Ile",
"transcript": "XM_047430255.1",
"protein_id": "XP_047286211.1",
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"feature": null
},
{
"aa_ref": "T",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.1364C>T",
"hgvs_p": "p.Thr455Ile",
"transcript": "XM_011535039.3",
"protein_id": "XP_011533341.1",
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"aa_start": 455,
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"cds_start": 1364,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.1373C>T",
"hgvs_p": "p.Thr458Ile",
"transcript": "XM_047430256.1",
"protein_id": "XP_047286212.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 4579,
"cds_start": 1373,
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"cdna_start": 2183,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
"gene_hgnc_id": 10519,
"hgvs_c": "c.1364C>T",
"hgvs_p": "p.Thr455Ile",
"transcript": "XM_017020539.2",
"protein_id": "XP_016876028.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 4576,
"cds_start": 1364,
"cds_end": null,
"cds_length": 13731,
"cdna_start": 1510,
"cdna_end": null,
"cdna_length": 15183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SACS",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"acmg_classification": "Benign",
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{
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"verdict": "Benign",
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"inheritance_mode": "AR",
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"clinvar_disease": "Charlevoix-Saguenay spastic ataxia,Hereditary spastic paraplegia,SACS-related disorder,Spastic paraplegia,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:3 B:3",
"phenotype_combined": "Charlevoix-Saguenay spastic ataxia|Hereditary spastic paraplegia|not provided|Spastic paraplegia|not specified|SACS-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}