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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: 12-64497987-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=64497987&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 64497987,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000331710.10",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.2086G>A",
"hgvs_p": "p.Glu696Lys",
"transcript": "NM_013254.4",
"protein_id": "NP_037386.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 729,
"cds_start": 2086,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2185,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": "ENST00000331710.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.2086G>A",
"hgvs_p": "p.Glu696Lys",
"transcript": "ENST00000331710.10",
"protein_id": "ENSP00000329967.5",
"transcript_support_level": 1,
"aa_start": 696,
"aa_end": null,
"aa_length": 729,
"cds_start": 2086,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2185,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": "NM_013254.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.2086G>A",
"hgvs_p": "p.Glu696Lys",
"transcript": "ENST00000650790.1",
"protein_id": "ENSP00000498995.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 729,
"cds_start": 2086,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2228,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.2083G>A",
"hgvs_p": "p.Glu695Lys",
"transcript": "ENST00000677641.1",
"protein_id": "ENSP00000504637.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 728,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 2212,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Glu691Lys",
"transcript": "ENST00000677632.1",
"protein_id": "ENSP00000504586.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 724,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2170,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1984G>A",
"hgvs_p": "p.Glu662Lys",
"transcript": "ENST00000678180.1",
"protein_id": "ENSP00000504132.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 695,
"cds_start": 1984,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1930G>A",
"hgvs_p": "p.Glu644Lys",
"transcript": "ENST00000651014.1",
"protein_id": "ENSP00000498885.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 677,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 2274,
"cdna_end": null,
"cdna_length": 3046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1930G>A",
"hgvs_p": "p.Glu644Lys",
"transcript": "ENST00000676912.1",
"protein_id": "ENSP00000503567.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 677,
"cds_start": 1930,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1828G>A",
"hgvs_p": "p.Glu610Lys",
"transcript": "ENST00000650762.1",
"protein_id": "ENSP00000498758.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 643,
"cds_start": 1828,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1995,
"cdna_end": null,
"cdna_length": 2459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.1738G>A",
"hgvs_p": "p.Glu580Lys",
"transcript": "ENST00000676930.1",
"protein_id": "ENSP00000502899.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 613,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.19G>A",
"hgvs_p": "p.Glu7Lys",
"transcript": "ENST00000676593.1",
"protein_id": "ENSP00000503458.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 42,
"cds_start": 19,
"cds_end": null,
"cds_length": 129,
"cdna_start": 20,
"cdna_end": null,
"cdna_length": 877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.2086G>A",
"hgvs_p": "p.Glu696Lys",
"transcript": "XM_005268809.2",
"protein_id": "XP_005268866.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 729,
"cds_start": 2086,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2393,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.2086G>A",
"hgvs_p": "p.Glu696Lys",
"transcript": "XM_005268810.2",
"protein_id": "XP_005268867.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 729,
"cds_start": 2086,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2636,
"cdna_end": null,
"cdna_length": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.992G>A",
"hgvs_p": null,
"transcript": "ENST00000545392.2",
"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": 1781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.*495G>A",
"hgvs_p": null,
"transcript": "ENST00000650708.1",
"protein_id": "ENSP00000498667.1",
"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": 2751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.*2231G>A",
"hgvs_p": null,
"transcript": "ENST00000650786.1",
"protein_id": "ENSP00000498280.1",
"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": 3244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.2086G>A",
"hgvs_p": null,
"transcript": "ENST00000650997.1",
"protein_id": "ENSP00000498341.1",
"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": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.*353G>A",
"hgvs_p": null,
"transcript": "ENST00000651262.1",
"protein_id": "ENSP00000498461.1",
"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": 2902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.*1570G>A",
"hgvs_p": null,
"transcript": "ENST00000651878.1",
"protein_id": "ENSP00000499077.1",
"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": 3151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.*466G>A",
"hgvs_p": null,
"transcript": "ENST00000652537.1",
"protein_id": "ENSP00000499102.1",
"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": 3092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.2428G>A",
"hgvs_p": null,
"transcript": "ENST00000676654.1",
"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": 3204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.2806G>A",
"hgvs_p": null,
"transcript": "ENST00000676684.1",
"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": 3629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.*775G>A",
"hgvs_p": null,
"transcript": "ENST00000676809.1",
"protein_id": "ENSP00000504298.1",
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}
],
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}