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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: 11-66694197-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66694197&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66694197,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000533211.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4445G>A",
"hgvs_p": "p.Arg1482Gln",
"transcript": "NM_006946.4",
"protein_id": "NP_008877.2",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4445,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 5034,
"cdna_end": null,
"cdna_length": 11136,
"mane_select": "ENST00000533211.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4445G>A",
"hgvs_p": "p.Arg1482Gln",
"transcript": "ENST00000533211.6",
"protein_id": "ENSP00000432568.1",
"transcript_support_level": 5,
"aa_start": 1482,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4445,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 5034,
"cdna_end": null,
"cdna_length": 11136,
"mane_select": "NM_006946.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4445G>A",
"hgvs_p": "p.Arg1482Gln",
"transcript": "ENST00000309996.7",
"protein_id": "ENSP00000311489.2",
"transcript_support_level": 1,
"aa_start": 1482,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4445,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 4953,
"cdna_end": null,
"cdna_length": 7681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4466G>A",
"hgvs_p": "p.Arg1489Gln",
"transcript": "NM_001411025.1",
"protein_id": "NP_001397954.1",
"transcript_support_level": null,
"aa_start": 1489,
"aa_end": null,
"aa_length": 2397,
"cds_start": 4466,
"cds_end": null,
"cds_length": 7194,
"cdna_start": 4709,
"cdna_end": null,
"cdna_length": 10811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4466G>A",
"hgvs_p": "p.Arg1489Gln",
"transcript": "ENST00000617502.5",
"protein_id": "ENSP00000482000.2",
"transcript_support_level": 5,
"aa_start": 1489,
"aa_end": null,
"aa_length": 2397,
"cds_start": 4466,
"cds_end": null,
"cds_length": 7194,
"cdna_start": 4718,
"cdna_end": null,
"cdna_length": 7446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4445G>A",
"hgvs_p": "p.Arg1482Gln",
"transcript": "NM_001437541.1",
"protein_id": "NP_001424470.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4445,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 4943,
"cdna_end": null,
"cdna_length": 11045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4445G>A",
"hgvs_p": "p.Arg1482Gln",
"transcript": "ENST00000611817.5",
"protein_id": "ENSP00000480692.2",
"transcript_support_level": 2,
"aa_start": 1482,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4445,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 5048,
"cdna_end": null,
"cdna_length": 7776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4445G>A",
"hgvs_p": "p.Arg1482Gln",
"transcript": "ENST00000713738.1",
"protein_id": "ENSP00000519042.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4445,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 4948,
"cdna_end": null,
"cdna_length": 11051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4445G>A",
"hgvs_p": "p.Arg1482Gln",
"transcript": "ENST00000529997.5",
"protein_id": "ENSP00000433593.1",
"transcript_support_level": 5,
"aa_start": 1482,
"aa_end": null,
"aa_length": 2365,
"cds_start": 4445,
"cds_end": null,
"cds_length": 7098,
"cdna_start": 4445,
"cdna_end": null,
"cdna_length": 8085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4445G>A",
"hgvs_p": "p.Arg1482Gln",
"transcript": "ENST00000713741.1",
"protein_id": "ENSP00000519045.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 2361,
"cds_start": 4445,
"cds_end": null,
"cds_length": 7086,
"cdna_start": 4895,
"cdna_end": null,
"cdna_length": 8153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4445G>A",
"hgvs_p": "p.Arg1482Gln",
"transcript": "ENST00000713739.1",
"protein_id": "ENSP00000519043.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 2265,
"cds_start": 4445,
"cds_end": null,
"cds_length": 6798,
"cdna_start": 4445,
"cdna_end": null,
"cdna_length": 7417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.3998G>A",
"hgvs_p": "p.Arg1333Gln",
"transcript": "ENST00000713742.1",
"protein_id": "ENSP00000519046.1",
"transcript_support_level": null,
"aa_start": 1333,
"aa_end": null,
"aa_length": 2241,
"cds_start": 3998,
"cds_end": null,
"cds_length": 6726,
"cdna_start": 4451,
"cdna_end": null,
"cdna_length": 7395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.2819G>A",
"hgvs_p": "p.Arg940Gln",
"transcript": "ENST00000713740.1",
"protein_id": "ENSP00000519044.1",
"transcript_support_level": null,
"aa_start": 940,
"aa_end": null,
"aa_length": 1848,
"cds_start": 2819,
"cds_end": null,
"cds_length": 5547,
"cdna_start": 2819,
"cdna_end": null,
"cdna_length": 6164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4445G>A",
"hgvs_p": "p.Arg1482Gln",
"transcript": "XM_006718671.5",
"protein_id": "XP_006718734.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4445,
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"cds_length": 7173,
"cdna_start": 4673,
"cdna_end": null,
"cdna_length": 10775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4445G>A",
"hgvs_p": "p.Arg1482Gln",
"transcript": "XM_017018174.2",
"protein_id": "XP_016873663.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4445,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 5126,
"cdna_end": null,
"cdna_length": 11228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4445G>A",
"hgvs_p": "p.Arg1482Gln",
"transcript": "XM_017018175.3",
"protein_id": "XP_016873664.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
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"cds_start": 4445,
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"cds_length": 7173,
"cdna_start": 4687,
"cdna_end": null,
"cdna_length": 10789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4445G>A",
"hgvs_p": "p.Arg1482Gln",
"transcript": "XM_017018176.2",
"protein_id": "XP_016873665.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4445,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 4716,
"cdna_end": null,
"cdna_length": 10818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4445G>A",
"hgvs_p": "p.Arg1482Gln",
"transcript": "XM_017018177.3",
"protein_id": "XP_016873666.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4445,
"cds_end": null,
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"cdna_start": 4596,
"cdna_end": null,
"cdna_length": 10698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4445G>A",
"hgvs_p": "p.Arg1482Gln",
"transcript": "XM_017018178.2",
"protein_id": "XP_016873667.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
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"cds_start": 4445,
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"cdna_start": 4582,
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"cdna_length": 10684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4445G>A",
"hgvs_p": "p.Arg1482Gln",
"transcript": "XM_047427488.1",
"protein_id": "XP_047283444.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4445,
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"cdna_start": 4808,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4445G>A",
"hgvs_p": "p.Arg1482Gln",
"transcript": "XM_047427489.1",
"protein_id": "XP_047283445.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4445,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 4765,
"cdna_end": null,
"cdna_length": 10867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.4445G>A",
"hgvs_p": "p.Arg1482Gln",
"transcript": "XM_047427490.1",
"protein_id": "XP_047283446.1",
"transcript_support_level": null,
"aa_start": 1482,
"aa_end": null,
"aa_length": 2390,
"cds_start": 4445,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 6457,
"cdna_end": null,
"cdna_length": 12559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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{
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{
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{
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},
{
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{
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},
{
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"downstream_gene_variant"
],
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}
],
"gene_symbol": "SPTBN2",
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"dbsnp": "rs769576700",
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"hom_count_reference_population": 0,
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"gnomad_exomes_af": 0.000104033,
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"computational_score_selected": 0.026985257863998413,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.028,
"revel_prediction": "Benign",
"alphamissense_score": 0.0621,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.3,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -10,
"acmg_classification": "Benign",
"acmg_criteria": "PM5,BP4_Strong,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 12,
"pathogenic_score": 2,
"criteria": [
"PM5",
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000533211.6",
"gene_symbol": "SPTBN2",
"hgnc_id": 11276,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4445G>A",
"hgvs_p": "p.Arg1482Gln"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}