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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: 22-50456591-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50456591&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50456591,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000380817.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.3987G>C",
"hgvs_p": "p.Ala1329Ala",
"transcript": "NM_002972.4",
"protein_id": "NP_002963.2",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1893,
"cds_start": 3987,
"cds_end": null,
"cds_length": 5682,
"cdna_start": 4182,
"cdna_end": null,
"cdna_length": 8019,
"mane_select": "ENST00000380817.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.3987G>C",
"hgvs_p": "p.Ala1329Ala",
"transcript": "ENST00000380817.8",
"protein_id": "ENSP00000370196.2",
"transcript_support_level": 1,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1893,
"cds_start": 3987,
"cds_end": null,
"cds_length": 5682,
"cdna_start": 4182,
"cdna_end": null,
"cdna_length": 8019,
"mane_select": "NM_002972.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.4005G>C",
"hgvs_p": "p.Ala1335Ala",
"transcript": "ENST00000693052.1",
"protein_id": "ENSP00000509558.1",
"transcript_support_level": null,
"aa_start": 1335,
"aa_end": null,
"aa_length": 1899,
"cds_start": 4005,
"cds_end": null,
"cds_length": 5700,
"cdna_start": 4171,
"cdna_end": null,
"cdna_length": 6202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.3990G>C",
"hgvs_p": "p.Ala1330Ala",
"transcript": "NM_001410794.1",
"protein_id": "NP_001397723.1",
"transcript_support_level": null,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1894,
"cds_start": 3990,
"cds_end": null,
"cds_length": 5685,
"cdna_start": 4185,
"cdna_end": null,
"cdna_length": 8022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.3990G>C",
"hgvs_p": "p.Ala1330Ala",
"transcript": "ENST00000684986.1",
"protein_id": "ENSP00000509117.1",
"transcript_support_level": null,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1894,
"cds_start": 3990,
"cds_end": null,
"cds_length": 5685,
"cdna_start": 4175,
"cdna_end": null,
"cdna_length": 6200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.3987G>C",
"hgvs_p": "p.Ala1329Ala",
"transcript": "ENST00000688066.1",
"protein_id": "ENSP00000510782.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1893,
"cds_start": 3987,
"cds_end": null,
"cds_length": 5682,
"cdna_start": 4157,
"cdna_end": null,
"cdna_length": 6110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.3984G>C",
"hgvs_p": "p.Ala1328Ala",
"transcript": "ENST00000693440.1",
"protein_id": "ENSP00000509462.1",
"transcript_support_level": null,
"aa_start": 1328,
"aa_end": null,
"aa_length": 1892,
"cds_start": 3984,
"cds_end": null,
"cds_length": 5679,
"cdna_start": 4156,
"cdna_end": null,
"cdna_length": 6187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.3981G>C",
"hgvs_p": "p.Ala1327Ala",
"transcript": "ENST00000690990.1",
"protein_id": "ENSP00000510461.1",
"transcript_support_level": null,
"aa_start": 1327,
"aa_end": null,
"aa_length": 1891,
"cds_start": 3981,
"cds_end": null,
"cds_length": 5676,
"cdna_start": 4160,
"cdna_end": null,
"cdna_length": 6191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.3987G>C",
"hgvs_p": "p.Ala1329Ala",
"transcript": "ENST00000691792.1",
"protein_id": "ENSP00000509911.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1888,
"cds_start": 3987,
"cds_end": null,
"cds_length": 5667,
"cdna_start": 4177,
"cdna_end": null,
"cdna_length": 6179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.3987G>C",
"hgvs_p": "p.Ala1329Ala",
"transcript": "ENST00000689981.1",
"protein_id": "ENSP00000509035.1",
"transcript_support_level": null,
"aa_start": 1329,
"aa_end": null,
"aa_length": 1880,
"cds_start": 3987,
"cds_end": null,
"cds_length": 5643,
"cdna_start": 4182,
"cdna_end": null,
"cdna_length": 6174,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.3912G>C",
"hgvs_p": "p.Ala1304Ala",
"transcript": "NM_001365819.1",
"protein_id": "NP_001352748.1",
"transcript_support_level": null,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1868,
"cds_start": 3912,
"cds_end": null,
"cds_length": 5607,
"cdna_start": 4107,
"cdna_end": null,
"cdna_length": 7944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.3912G>C",
"hgvs_p": "p.Ala1304Ala",
"transcript": "ENST00000689129.1",
"protein_id": "ENSP00000510414.1",
"transcript_support_level": null,
"aa_start": 1304,
"aa_end": null,
"aa_length": 1868,
"cds_start": 3912,
"cds_end": null,
"cds_length": 5607,
"cdna_start": 4143,
"cdna_end": null,
"cdna_length": 8669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.3909G>C",
"hgvs_p": "p.Ala1303Ala",
"transcript": "NM_001410795.1",
"protein_id": "NP_001397724.1",
"transcript_support_level": null,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1867,
"cds_start": 3909,
"cds_end": null,
"cds_length": 5604,
"cdna_start": 4104,
"cdna_end": null,
"cdna_length": 7941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.3909G>C",
"hgvs_p": "p.Ala1303Ala",
"transcript": "ENST00000348911.11",
"protein_id": "ENSP00000252027.8",
"transcript_support_level": 5,
"aa_start": 1303,
"aa_end": null,
"aa_length": 1867,
"cds_start": 3909,
"cds_end": null,
"cds_length": 5604,
"cdna_start": 4094,
"cdna_end": null,
"cdna_length": 6125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.3906G>C",
"hgvs_p": "p.Ala1302Ala",
"transcript": "ENST00000691233.1",
"protein_id": "ENSP00000509215.1",
"transcript_support_level": null,
"aa_start": 1302,
"aa_end": null,
"aa_length": 1866,
"cds_start": 3906,
"cds_end": null,
"cds_length": 5601,
"cdna_start": 4099,
"cdna_end": null,
"cdna_length": 6130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.3900G>C",
"hgvs_p": "p.Ala1300Ala",
"transcript": "ENST00000685809.1",
"protein_id": "ENSP00000508863.1",
"transcript_support_level": null,
"aa_start": 1300,
"aa_end": null,
"aa_length": 1864,
"cds_start": 3900,
"cds_end": null,
"cds_length": 5595,
"cdna_start": 4101,
"cdna_end": null,
"cdna_length": 6132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.3888G>C",
"hgvs_p": "p.Ala1296Ala",
"transcript": "ENST00000687016.1",
"protein_id": "ENSP00000509074.1",
"transcript_support_level": null,
"aa_start": 1296,
"aa_end": null,
"aa_length": 1859,
"cds_start": 3888,
"cds_end": null,
"cds_length": 5580,
"cdna_start": 4064,
"cdna_end": null,
"cdna_length": 6091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.81G>C",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000691306.1",
"protein_id": "ENSP00000508964.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 409,
"cds_start": 81,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 83,
"cdna_end": null,
"cdna_length": 1232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "c.81G>C",
"hgvs_p": "p.Ala27Ala",
"transcript": "ENST00000686029.1",
"protein_id": "ENSP00000510100.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 295,
"cds_start": 81,
"cds_end": null,
"cds_length": 888,
"cdna_start": 83,
"cdna_end": null,
"cdna_length": 890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.309G>C",
"hgvs_p": null,
"transcript": "ENST00000470434.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.397G>C",
"hgvs_p": null,
"transcript": "ENST00000476293.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.1955G>C",
"hgvs_p": null,
"transcript": "ENST00000685390.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SBF1",
"gene_hgnc_id": 10542,
"hgvs_c": "n.219G>C",
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],
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"splice_prediction_selected": "Benign",
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{
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"BP7"
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}