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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: 14-93540715-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=93540715&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 93540715,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000695012.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1408C>T",
"hgvs_p": "p.Arg470Trp",
"transcript": "NM_001395159.1",
"protein_id": "NP_001382088.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 2707,
"cds_start": 1408,
"cds_end": null,
"cds_length": 8124,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 9187,
"mane_select": "ENST00000695012.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1408C>T",
"hgvs_p": "p.Arg470Trp",
"transcript": "ENST00000695012.1",
"protein_id": "ENSP00000511643.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 2707,
"cds_start": 1408,
"cds_end": null,
"cds_length": 8124,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 9187,
"mane_select": "NM_001395159.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1408C>T",
"hgvs_p": "p.Arg470Trp",
"transcript": "NM_001346218.2",
"protein_id": "NP_001333147.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 2685,
"cds_start": 1408,
"cds_end": null,
"cds_length": 8058,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 9121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1408C>T",
"hgvs_p": "p.Arg470Trp",
"transcript": "ENST00000695013.1",
"protein_id": "ENSP00000511644.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 2685,
"cds_start": 1408,
"cds_end": null,
"cds_length": 8058,
"cdna_start": 1464,
"cdna_end": null,
"cdna_length": 8459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1408C>T",
"hgvs_p": "p.Arg470Trp",
"transcript": "ENST00000553484.5",
"protein_id": "ENSP00000451360.1",
"transcript_support_level": 5,
"aa_start": 470,
"aa_end": null,
"aa_length": 2657,
"cds_start": 1408,
"cds_end": null,
"cds_length": 7974,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 9100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1408C>T",
"hgvs_p": "p.Arg470Trp",
"transcript": "ENST00000393151.6",
"protein_id": "ENSP00000376858.2",
"transcript_support_level": 5,
"aa_start": 470,
"aa_end": null,
"aa_length": 2635,
"cds_start": 1408,
"cds_end": null,
"cds_length": 7908,
"cdna_start": 1408,
"cdna_end": null,
"cdna_length": 7908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1408C>T",
"hgvs_p": "p.Arg470Trp",
"transcript": "ENST00000555664.5",
"protein_id": "ENSP00000450868.1",
"transcript_support_level": 5,
"aa_start": 470,
"aa_end": null,
"aa_length": 2596,
"cds_start": 1408,
"cds_end": null,
"cds_length": 7791,
"cdna_start": 2101,
"cdna_end": null,
"cdna_length": 8484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Arg293Trp",
"transcript": "NM_020818.5",
"protein_id": "NP_065869.3",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 2458,
"cds_start": 877,
"cds_end": null,
"cds_length": 7377,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 9041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Arg293Trp",
"transcript": "ENST00000256339.8",
"protein_id": "ENSP00000256339.4",
"transcript_support_level": 5,
"aa_start": 293,
"aa_end": null,
"aa_length": 2458,
"cds_start": 877,
"cds_end": null,
"cds_length": 7377,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 8400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.877C>T",
"hgvs_p": "p.Arg293Trp",
"transcript": "ENST00000621021.1",
"protein_id": "ENSP00000480937.1",
"transcript_support_level": 5,
"aa_start": 293,
"aa_end": null,
"aa_length": 2458,
"cds_start": 877,
"cds_end": null,
"cds_length": 7377,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 7377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1543C>T",
"hgvs_p": "p.Arg515Trp",
"transcript": "XM_011537018.3",
"protein_id": "XP_011535320.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 2752,
"cds_start": 1543,
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"cds_length": 8259,
"cdna_start": 5082,
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"cdna_length": 12770,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
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"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1543C>T",
"hgvs_p": "p.Arg515Trp",
"transcript": "XM_011537020.3",
"protein_id": "XP_011535322.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 2730,
"cds_start": 1543,
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"cdna_start": 5082,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1543C>T",
"hgvs_p": "p.Arg515Trp",
"transcript": "XM_017021506.2",
"protein_id": "XP_016876995.1",
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"aa_start": 515,
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"aa_length": 2718,
"cds_start": 1543,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 13,
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"exon_count": 51,
"intron_rank": null,
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"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1543C>T",
"hgvs_p": "p.Arg515Trp",
"transcript": "XM_017021507.2",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 13,
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"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1543C>T",
"hgvs_p": "p.Arg515Trp",
"transcript": "XM_017021508.2",
"protein_id": "XP_016876997.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
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"cds_start": 1543,
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"cdna_start": 5082,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
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"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1543C>T",
"hgvs_p": "p.Arg515Trp",
"transcript": "XM_011537022.3",
"protein_id": "XP_011535324.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
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"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Arg462Trp",
"transcript": "XM_011537023.3",
"protein_id": "XP_011535325.1",
"transcript_support_level": null,
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"cds_start": 1384,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Arg462Trp",
"transcript": "XM_017021509.2",
"protein_id": "XP_016876998.1",
"transcript_support_level": null,
"aa_start": 462,
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"cds_start": 1384,
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},
{
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"consequences": [
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],
"exon_rank": 13,
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"intron_rank": null,
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"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1543C>T",
"hgvs_p": "p.Arg515Trp",
"transcript": "XM_024449667.2",
"protein_id": "XP_024305435.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "UNC79",
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"hgvs_c": "c.1543C>T",
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"transcript": "XM_017021510.2",
"protein_id": "XP_016876999.1",
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},
{
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1357C>T",
"hgvs_p": "p.Arg453Trp",
"transcript": "XM_047431622.1",
"protein_id": "XP_047287578.1",
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"cdna_start": 4896,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
"hgvs_c": "c.1543C>T",
"hgvs_p": "p.Arg515Trp",
"transcript": "XM_017021513.2",
"protein_id": "XP_016877002.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 2680,
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"cdna_start": 5082,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UNC79",
"gene_hgnc_id": 19966,
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}