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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: 2-27201024-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27201024&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27201024,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_021095.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Arg580Trp",
"transcript": "NM_021095.4",
"protein_id": "NP_066918.2",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 635,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": "ENST00000310574.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021095.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Arg580Trp",
"transcript": "ENST00000310574.8",
"protein_id": "ENSP00000310208.3",
"transcript_support_level": 1,
"aa_start": 580,
"aa_end": null,
"aa_length": 635,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": "NM_021095.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310574.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Arg580Trp",
"transcript": "ENST00000408041.5",
"protein_id": "ENSP00000384853.1",
"transcript_support_level": 1,
"aa_start": 580,
"aa_end": null,
"aa_length": 635,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2060,
"cdna_end": null,
"cdna_length": 2230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408041.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1771C>T",
"hgvs_p": "p.Arg591Trp",
"transcript": "ENST00000892752.1",
"protein_id": "ENSP00000562811.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 646,
"cds_start": 1771,
"cds_end": null,
"cds_length": 1941,
"cdna_start": 2222,
"cdna_end": null,
"cdna_length": 3241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892752.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Arg580Trp",
"transcript": "ENST00000892748.1",
"protein_id": "ENSP00000562807.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 635,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2130,
"cdna_end": null,
"cdna_length": 3149,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892748.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Arg580Trp",
"transcript": "ENST00000892751.1",
"protein_id": "ENSP00000562810.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 635,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2262,
"cdna_end": null,
"cdna_length": 3281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892751.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Arg580Trp",
"transcript": "ENST00000892753.1",
"protein_id": "ENSP00000562812.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 635,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892753.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Arg580Trp",
"transcript": "ENST00000892754.1",
"protein_id": "ENSP00000562813.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 635,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2019,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892754.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Arg580Trp",
"transcript": "ENST00000892755.1",
"protein_id": "ENSP00000562814.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 635,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 3083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892755.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Arg580Trp",
"transcript": "ENST00000892756.1",
"protein_id": "ENSP00000562815.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 635,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2045,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892756.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Arg580Trp",
"transcript": "ENST00000892757.1",
"protein_id": "ENSP00000562816.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 635,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2401,
"cdna_end": null,
"cdna_length": 3417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892757.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Arg580Trp",
"transcript": "ENST00000926531.1",
"protein_id": "ENSP00000596590.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 635,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2009,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926531.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Arg580Trp",
"transcript": "ENST00000926534.1",
"protein_id": "ENSP00000596593.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 635,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2166,
"cdna_end": null,
"cdna_length": 3185,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926534.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Arg580Trp",
"transcript": "ENST00000926537.1",
"protein_id": "ENSP00000596596.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 635,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2185,
"cdna_end": null,
"cdna_length": 3204,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926537.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Arg580Trp",
"transcript": "ENST00000962472.1",
"protein_id": "ENSP00000632531.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 635,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2398,
"cdna_end": null,
"cdna_length": 3415,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962472.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Arg580Trp",
"transcript": "ENST00000962473.1",
"protein_id": "ENSP00000632532.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 635,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2180,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962473.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Arg580Trp",
"transcript": "ENST00000962474.1",
"protein_id": "ENSP00000632533.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 635,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2337,
"cdna_end": null,
"cdna_length": 3350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962474.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1738C>T",
"hgvs_p": "p.Arg580Trp",
"transcript": "ENST00000962475.1",
"protein_id": "ENSP00000632534.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 635,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 2042,
"cdna_end": null,
"cdna_length": 3059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962475.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1735C>T",
"hgvs_p": "p.Arg579Trp",
"transcript": "ENST00000926529.1",
"protein_id": "ENSP00000596588.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 634,
"cds_start": 1735,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926529.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1648C>T",
"hgvs_p": "p.Arg550Trp",
"transcript": "ENST00000892750.1",
"protein_id": "ENSP00000562809.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 605,
"cds_start": 1648,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 2109,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892750.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1648C>T",
"hgvs_p": "p.Arg550Trp",
"transcript": "ENST00000926528.1",
"protein_id": "ENSP00000596587.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 605,
"cds_start": 1648,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 2066,
"cdna_end": null,
"cdna_length": 3083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926528.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC5A6",
"gene_hgnc_id": 11041,
"hgvs_c": "c.1645C>T",
"hgvs_p": "p.Arg549Trp",
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],
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{
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],
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],
"gene_symbol": "SLC5A6",
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"dbsnp": "rs573985573",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4627324044704437,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.344,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0728,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.689,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_021095.4",
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"effects": [
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],
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],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}