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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: 9-133475078-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133475078&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 133475078,
"ref": "T",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_017585.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A6",
"gene_hgnc_id": 11011,
"hgvs_c": "c.810A>C",
"hgvs_p": "p.Pro270Pro",
"transcript": "NM_017585.4",
"protein_id": "NP_060055.2",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 507,
"cds_start": 810,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371899.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017585.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A6",
"gene_hgnc_id": 11011,
"hgvs_c": "c.810A>C",
"hgvs_p": "p.Pro270Pro",
"transcript": "ENST00000371899.9",
"protein_id": "ENSP00000360966.4",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 507,
"cds_start": 810,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017585.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371899.9"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A6",
"gene_hgnc_id": 11011,
"hgvs_c": "c.809A>C",
"hgvs_p": "p.His270Pro",
"transcript": "XM_047422706.1",
"protein_id": "XP_047278662.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 280,
"cds_start": 809,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422706.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A6",
"gene_hgnc_id": 11011,
"hgvs_c": "c.888A>C",
"hgvs_p": "p.Pro296Pro",
"transcript": "ENST00000917280.1",
"protein_id": "ENSP00000587339.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 533,
"cds_start": 888,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917280.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A6",
"gene_hgnc_id": 11011,
"hgvs_c": "c.810A>C",
"hgvs_p": "p.Pro270Pro",
"transcript": "ENST00000949324.1",
"protein_id": "ENSP00000619383.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 508,
"cds_start": 810,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949324.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A6",
"gene_hgnc_id": 11011,
"hgvs_c": "c.810A>C",
"hgvs_p": "p.Pro270Pro",
"transcript": "ENST00000917282.1",
"protein_id": "ENSP00000587341.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 507,
"cds_start": 810,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917282.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A6",
"gene_hgnc_id": 11011,
"hgvs_c": "c.768A>C",
"hgvs_p": "p.Pro256Pro",
"transcript": "ENST00000949328.1",
"protein_id": "ENSP00000619387.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 493,
"cds_start": 768,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949328.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A6",
"gene_hgnc_id": 11011,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Pro247Pro",
"transcript": "ENST00000917279.1",
"protein_id": "ENSP00000587338.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 484,
"cds_start": 741,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917279.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A6",
"gene_hgnc_id": 11011,
"hgvs_c": "c.732A>C",
"hgvs_p": "p.Pro244Pro",
"transcript": "ENST00000888408.1",
"protein_id": "ENSP00000558467.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 481,
"cds_start": 732,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888408.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A6",
"gene_hgnc_id": 11011,
"hgvs_c": "c.888A>C",
"hgvs_p": "p.Pro296Pro",
"transcript": "ENST00000917281.1",
"protein_id": "ENSP00000587340.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 471,
"cds_start": 888,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917281.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A6",
"gene_hgnc_id": 11011,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Pro233Pro",
"transcript": "ENST00000888407.1",
"protein_id": "ENSP00000558466.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 470,
"cds_start": 699,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888407.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A6",
"gene_hgnc_id": 11011,
"hgvs_c": "c.810A>C",
"hgvs_p": "p.Pro270Pro",
"transcript": "NM_001145099.2",
"protein_id": "NP_001138571.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 445,
"cds_start": 810,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145099.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A6",
"gene_hgnc_id": 11011,
"hgvs_c": "c.810A>C",
"hgvs_p": "p.Pro270Pro",
"transcript": "ENST00000371897.8",
"protein_id": "ENSP00000360964.4",
"transcript_support_level": 2,
"aa_start": 270,
"aa_end": null,
"aa_length": 445,
"cds_start": 810,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371897.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A6",
"gene_hgnc_id": 11011,
"hgvs_c": "c.768A>C",
"hgvs_p": "p.Pro256Pro",
"transcript": "ENST00000888406.1",
"protein_id": "ENSP00000558465.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 431,
"cds_start": 768,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888406.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A6",
"gene_hgnc_id": 11011,
"hgvs_c": "c.741A>C",
"hgvs_p": "p.Pro247Pro",
"transcript": "ENST00000917278.1",
"protein_id": "ENSP00000587337.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 422,
"cds_start": 741,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917278.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A6",
"gene_hgnc_id": 11011,
"hgvs_c": "c.732A>C",
"hgvs_p": "p.Pro244Pro",
"transcript": "ENST00000917277.1",
"protein_id": "ENSP00000587336.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 419,
"cds_start": 732,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917277.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A6",
"gene_hgnc_id": 11011,
"hgvs_c": "c.699A>C",
"hgvs_p": "p.Pro233Pro",
"transcript": "ENST00000949325.1",
"protein_id": "ENSP00000619384.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 408,
"cds_start": 699,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949325.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A6",
"gene_hgnc_id": 11011,
"hgvs_c": "c.810A>C",
"hgvs_p": "p.Pro270Pro",
"transcript": "XM_047422705.1",
"protein_id": "XP_047278661.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 438,
"cds_start": 810,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422705.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A6",
"gene_hgnc_id": 11011,
"hgvs_c": "c.192A>C",
"hgvs_p": "p.Pro64Pro",
"transcript": "XM_011518189.4",
"protein_id": "XP_011516491.2",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 301,
"cds_start": 192,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518189.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A6",
"gene_hgnc_id": 11011,
"hgvs_c": "c.78A>C",
"hgvs_p": "p.Pro26Pro",
"transcript": "XM_017014237.3",
"protein_id": "XP_016869726.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 263,
"cds_start": 78,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014237.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A6",
"gene_hgnc_id": 11011,
"hgvs_c": "c.*13A>C",
"hgvs_p": null,
"transcript": "XM_047422707.1",
"protein_id": "XP_047278663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 266,
"cds_start": null,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422707.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC2A6",
"gene_hgnc_id": 11011,
"hgvs_c": "c.*13A>C",
"hgvs_p": null,
"transcript": "XM_047422708.1",
"protein_id": "XP_047278664.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 263,
"cds_start": null,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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{
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{
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"biotype": "pseudogene",
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],
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"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.879,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": -13,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BP7",
"BA1"
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"verdict": "Benign",
"transcript": "NM_017585.4",
"gene_symbol": "SLC2A6",
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"effects": [
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"inheritance_mode": "AD",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}