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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: 22-50447198-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50447198&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50447198,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001410794.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.5626G>C",
"hgvs_p": "p.Val1876Leu",
"transcript": "NM_002972.4",
"protein_id": "NP_002963.2",
"transcript_support_level": null,
"aa_start": 1876,
"aa_end": null,
"aa_length": 1893,
"cds_start": 5626,
"cds_end": null,
"cds_length": 5682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380817.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002972.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.5626G>C",
"hgvs_p": "p.Val1876Leu",
"transcript": "ENST00000380817.8",
"protein_id": "ENSP00000370196.2",
"transcript_support_level": 1,
"aa_start": 1876,
"aa_end": null,
"aa_length": 1893,
"cds_start": 5626,
"cds_end": null,
"cds_length": 5682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002972.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380817.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.1222G>C",
"hgvs_p": "p.Val408Leu",
"transcript": "ENST00000418590.4",
"protein_id": "ENSP00000401538.2",
"transcript_support_level": 1,
"aa_start": 408,
"aa_end": null,
"aa_length": 425,
"cds_start": 1222,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418590.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.5686G>C",
"hgvs_p": "p.Val1896Leu",
"transcript": "ENST00000931646.1",
"protein_id": "ENSP00000601705.1",
"transcript_support_level": null,
"aa_start": 1896,
"aa_end": null,
"aa_length": 1913,
"cds_start": 5686,
"cds_end": null,
"cds_length": 5742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931646.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.5647G>C",
"hgvs_p": "p.Val1883Leu",
"transcript": "ENST00000967446.1",
"protein_id": "ENSP00000637505.1",
"transcript_support_level": null,
"aa_start": 1883,
"aa_end": null,
"aa_length": 1900,
"cds_start": 5647,
"cds_end": null,
"cds_length": 5703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967446.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.5644G>C",
"hgvs_p": "p.Val1882Leu",
"transcript": "ENST00000693052.1",
"protein_id": "ENSP00000509558.1",
"transcript_support_level": null,
"aa_start": 1882,
"aa_end": null,
"aa_length": 1899,
"cds_start": 5644,
"cds_end": null,
"cds_length": 5700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693052.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.5638G>C",
"hgvs_p": "p.Val1880Leu",
"transcript": "ENST00000931645.1",
"protein_id": "ENSP00000601704.1",
"transcript_support_level": null,
"aa_start": 1880,
"aa_end": null,
"aa_length": 1897,
"cds_start": 5638,
"cds_end": null,
"cds_length": 5694,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931645.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.5635G>C",
"hgvs_p": "p.Val1879Leu",
"transcript": "ENST00000967449.1",
"protein_id": "ENSP00000637508.1",
"transcript_support_level": null,
"aa_start": 1879,
"aa_end": null,
"aa_length": 1896,
"cds_start": 5635,
"cds_end": null,
"cds_length": 5691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967449.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.5629G>C",
"hgvs_p": "p.Val1877Leu",
"transcript": "NM_001410794.1",
"protein_id": "NP_001397723.1",
"transcript_support_level": null,
"aa_start": 1877,
"aa_end": null,
"aa_length": 1894,
"cds_start": 5629,
"cds_end": null,
"cds_length": 5685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410794.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.5629G>C",
"hgvs_p": "p.Val1877Leu",
"transcript": "ENST00000684986.1",
"protein_id": "ENSP00000509117.1",
"transcript_support_level": null,
"aa_start": 1877,
"aa_end": null,
"aa_length": 1894,
"cds_start": 5629,
"cds_end": null,
"cds_length": 5685,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684986.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.5626G>C",
"hgvs_p": "p.Val1876Leu",
"transcript": "ENST00000688066.1",
"protein_id": "ENSP00000510782.1",
"transcript_support_level": null,
"aa_start": 1876,
"aa_end": null,
"aa_length": 1893,
"cds_start": 5626,
"cds_end": null,
"cds_length": 5682,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688066.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.5623G>C",
"hgvs_p": "p.Val1875Leu",
"transcript": "ENST00000693440.1",
"protein_id": "ENSP00000509462.1",
"transcript_support_level": null,
"aa_start": 1875,
"aa_end": null,
"aa_length": 1892,
"cds_start": 5623,
"cds_end": null,
"cds_length": 5679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693440.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.5623G>C",
"hgvs_p": "p.Val1875Leu",
"transcript": "ENST00000931647.1",
"protein_id": "ENSP00000601706.1",
"transcript_support_level": null,
"aa_start": 1875,
"aa_end": null,
"aa_length": 1892,
"cds_start": 5623,
"cds_end": null,
"cds_length": 5679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931647.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.5620G>C",
"hgvs_p": "p.Val1874Leu",
"transcript": "ENST00000690990.1",
"protein_id": "ENSP00000510461.1",
"transcript_support_level": null,
"aa_start": 1874,
"aa_end": null,
"aa_length": 1891,
"cds_start": 5620,
"cds_end": null,
"cds_length": 5676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690990.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.5617G>C",
"hgvs_p": "p.Val1873Leu",
"transcript": "ENST00000899576.1",
"protein_id": "ENSP00000569635.1",
"transcript_support_level": null,
"aa_start": 1873,
"aa_end": null,
"aa_length": 1890,
"cds_start": 5617,
"cds_end": null,
"cds_length": 5673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899576.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.5617G>C",
"hgvs_p": "p.Val1873Leu",
"transcript": "ENST00000967450.1",
"protein_id": "ENSP00000637509.1",
"transcript_support_level": null,
"aa_start": 1873,
"aa_end": null,
"aa_length": 1890,
"cds_start": 5617,
"cds_end": null,
"cds_length": 5673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967450.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.5614G>C",
"hgvs_p": "p.Val1872Leu",
"transcript": "ENST00000931644.1",
"protein_id": "ENSP00000601703.1",
"transcript_support_level": null,
"aa_start": 1872,
"aa_end": null,
"aa_length": 1889,
"cds_start": 5614,
"cds_end": null,
"cds_length": 5670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931644.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.5611G>C",
"hgvs_p": "p.Val1871Leu",
"transcript": "ENST00000691792.1",
"protein_id": "ENSP00000509911.1",
"transcript_support_level": null,
"aa_start": 1871,
"aa_end": null,
"aa_length": 1888,
"cds_start": 5611,
"cds_end": null,
"cds_length": 5667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691792.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.5587G>C",
"hgvs_p": "p.Val1863Leu",
"transcript": "ENST00000689981.1",
"protein_id": "ENSP00000509035.1",
"transcript_support_level": null,
"aa_start": 1863,
"aa_end": null,
"aa_length": 1880,
"cds_start": 5587,
"cds_end": null,
"cds_length": 5643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689981.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.5566G>C",
"hgvs_p": "p.Val1856Leu",
"transcript": "ENST00000967453.1",
"protein_id": "ENSP00000637512.1",
"transcript_support_level": null,
"aa_start": 1856,
"aa_end": null,
"aa_length": 1873,
"cds_start": 5566,
"cds_end": null,
"cds_length": 5622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967453.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.5560G>C",
"hgvs_p": "p.Val1854Leu",
"transcript": "ENST00000967448.1",
"protein_id": "ENSP00000637507.1",
"transcript_support_level": null,
"aa_start": 1854,
"aa_end": null,
"aa_length": 1871,
"cds_start": 5560,
"cds_end": null,
"cds_length": 5616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967448.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.5551G>C",
"hgvs_p": "p.Val1851Leu",
"transcript": "NM_001365819.1",
"protein_id": "NP_001352748.1",
"transcript_support_level": null,
"aa_start": 1851,
"aa_end": null,
"aa_length": 1868,
"cds_start": 5551,
"cds_end": null,
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{
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{
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12255451083183289,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.07,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.589,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
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"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001410794.1",
"gene_symbol": "SBF1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5629G>C",
"hgvs_p": "p.Val1877Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}