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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: 12-64480122-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=64480122&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 64480122,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000331710.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "NM_013254.4",
"protein_id": "NP_037386.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 729,
"cds_start": 812,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": "ENST00000331710.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "ENST00000331710.10",
"protein_id": "ENSP00000329967.5",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 729,
"cds_start": 812,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": "NM_013254.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "ENST00000650790.1",
"protein_id": "ENSP00000498995.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 729,
"cds_start": 812,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "ENST00000677641.1",
"protein_id": "ENSP00000504637.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 728,
"cds_start": 812,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "ENST00000677632.1",
"protein_id": "ENSP00000504586.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 724,
"cds_start": 812,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 911,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "ENST00000652657.1",
"protein_id": "ENSP00000498887.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 705,
"cds_start": 812,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 2944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "ENST00000678180.1",
"protein_id": "ENSP00000504132.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 695,
"cds_start": 812,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219Gln",
"transcript": "ENST00000651014.1",
"protein_id": "ENSP00000498885.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 677,
"cds_start": 656,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 3046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219Gln",
"transcript": "ENST00000676912.1",
"protein_id": "ENSP00000503567.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 677,
"cds_start": 656,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.656G>A",
"hgvs_p": "p.Arg219Gln",
"transcript": "ENST00000650762.1",
"protein_id": "ENSP00000498758.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 643,
"cds_start": 656,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 2459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "ENST00000676930.1",
"protein_id": "ENSP00000502899.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 613,
"cds_start": 812,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.110G>A",
"hgvs_p": "p.Arg37His",
"transcript": "ENST00000676983.1",
"protein_id": "ENSP00000503561.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 101,
"cds_start": 110,
"cds_end": null,
"cds_length": 307,
"cdna_start": 111,
"cdna_end": null,
"cdna_length": 308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "XM_005268809.2",
"protein_id": "XP_005268866.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 729,
"cds_start": 812,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "XM_005268810.2",
"protein_id": "XP_005268867.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 729,
"cds_start": 812,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 1362,
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.686G>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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.*957G>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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.812G>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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.812G>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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.*296G>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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.563G>A",
"hgvs_p": null,
"transcript": "ENST00000651889.1",
"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": 1573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.900G>A",
"hgvs_p": null,
"transcript": "ENST00000651947.1",
"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": 1786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.812G>A",
"hgvs_p": null,
"transcript": "ENST00000652389.1",
"protein_id": "ENSP00000498414.1",
"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": 2285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
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"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 4|TBK1-related disorder|Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8;Autoinflammation with arthritis and vasculitis;Frontotemporal dementia and/or amyotrophic lateral sclerosis 4",
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"custom_annotations": null
}
],
"message": null
}