← Back to variant description
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: 12-64498014-GCTGAAAATAACCA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=64498014&ref=GCTGAAAATAACCA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 64498014,
"ref": "GCTGAAAATAACCA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000331710.10",
"consequences": [
{
"aa_ref": "AENNH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.2115_2127delTGAAAATAACCAC",
"hgvs_p": "p.Glu706fs",
"transcript": "NM_013254.4",
"protein_id": "NP_037386.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 729,
"cds_start": 2115,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2214,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": "ENST00000331710.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AENNH",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.2115_2127delTGAAAATAACCAC",
"hgvs_p": "p.Glu706fs",
"transcript": "ENST00000331710.10",
"protein_id": "ENSP00000329967.5",
"transcript_support_level": 1,
"aa_start": 705,
"aa_end": null,
"aa_length": 729,
"cds_start": 2115,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2214,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": "NM_013254.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AENNH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.2115_2127delTGAAAATAACCAC",
"hgvs_p": "p.Glu706fs",
"transcript": "ENST00000650790.1",
"protein_id": "ENSP00000498995.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 729,
"cds_start": 2115,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2257,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AENNH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.2112_2124delTGAAAATAACCAC",
"hgvs_p": "p.Glu705fs",
"transcript": "ENST00000677641.1",
"protein_id": "ENSP00000504637.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 728,
"cds_start": 2112,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 2241,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AENNH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.2100_2112delTGAAAATAACCAC",
"hgvs_p": "p.Glu701fs",
"transcript": "ENST00000677632.1",
"protein_id": "ENSP00000504586.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 724,
"cds_start": 2100,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2199,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AENNH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.2013_2025delTGAAAATAACCAC",
"hgvs_p": "p.Glu672fs",
"transcript": "ENST00000678180.1",
"protein_id": "ENSP00000504132.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 695,
"cds_start": 2013,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 2109,
"cdna_end": null,
"cdna_length": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AENNH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1959_1971delTGAAAATAACCAC",
"hgvs_p": "p.Glu654fs",
"transcript": "ENST00000651014.1",
"protein_id": "ENSP00000498885.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 677,
"cds_start": 1959,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 2303,
"cdna_end": null,
"cdna_length": 3046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AENNH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1959_1971delTGAAAATAACCAC",
"hgvs_p": "p.Glu654fs",
"transcript": "ENST00000676912.1",
"protein_id": "ENSP00000503567.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 677,
"cds_start": 1959,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AENNH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1857_1869delTGAAAATAACCAC",
"hgvs_p": "p.Glu620fs",
"transcript": "ENST00000650762.1",
"protein_id": "ENSP00000498758.1",
"transcript_support_level": null,
"aa_start": 619,
"aa_end": null,
"aa_length": 643,
"cds_start": 1857,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 2024,
"cdna_end": null,
"cdna_length": 2459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AENNH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.1767_1779delTGAAAATAACCAC",
"hgvs_p": "p.Glu590fs",
"transcript": "ENST00000676930.1",
"protein_id": "ENSP00000502899.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 613,
"cds_start": 1767,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1855,
"cdna_end": null,
"cdna_length": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AENNH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.48_60delTGAAAATAACCAC",
"hgvs_p": "p.Glu17fs",
"transcript": "ENST00000676593.1",
"protein_id": "ENSP00000503458.1",
"transcript_support_level": null,
"aa_start": 16,
"aa_end": null,
"aa_length": 42,
"cds_start": 48,
"cds_end": null,
"cds_length": 129,
"cdna_start": 49,
"cdna_end": null,
"cdna_length": 877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AENNH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.2115_2127delTGAAAATAACCAC",
"hgvs_p": "p.Glu706fs",
"transcript": "XM_005268809.2",
"protein_id": "XP_005268866.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 729,
"cds_start": 2115,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2422,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "AENNH",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_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.2115_2127delTGAAAATAACCAC",
"hgvs_p": "p.Glu706fs",
"transcript": "XM_005268810.2",
"protein_id": "XP_005268867.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 729,
"cds_start": 2115,
"cds_end": null,
"cds_length": 2190,
"cdna_start": 2665,
"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.1021_1033delTGAAAATAACCAC",
"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.*524_*536delTGAAAATAACCAC",
"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.*2260_*2272delTGAAAATAACCAC",
"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.2115_2127delTGAAAATAACCAC",
"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.*382_*394delTGAAAATAACCAC",
"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.*1599_*1611delTGAAAATAACCAC",
"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.*495_*507delTGAAAATAACCAC",
"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.2457_2469delTGAAAATAACCAC",
"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.2835_2847delTGAAAATAACCAC",
"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.*804_*816delTGAAAATAACCAC",
"hgvs_p": null,
"transcript": "ENST00000676809.1",
"protein_id": "ENSP00000504298.1",
"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": 3273,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288665",
"gene_hgnc_id": null,
"hgvs_c": "n.49_61delTGAAAATAACCAC",
"hgvs_p": null,
"transcript": "ENST00000677093.1",
"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": 228,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.48_60delTGAAAATAACCAC",
"hgvs_p": null,
"transcript": "ENST00000677313.1",
"protein_id": "ENSP00000503363.1",
"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": 1008,
"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.*491_*503delTGAAAATAACCAC",
"hgvs_p": null,
"transcript": "ENST00000677499.1",
"protein_id": "ENSP00000502875.1",
"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": 3108,
"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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.5184_5196delTGAAAATAACCAC",
"hgvs_p": null,
"transcript": "ENST00000677686.1",
"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": 5944,
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "n.*495_*507delTGAAAATAACCAC",
"hgvs_p": null,
"transcript": "ENST00000677831.1",
"protein_id": "ENSP00000503760.1",
"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": 2960,
"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.2098_2110delTGAAAATAACCAC",
"hgvs_p": null,
"transcript": "ENST00000678197.1",
"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": 2906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_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.*524_*536delTGAAAATAACCAC",
"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": [
"3_prime_UTR_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.*2260_*2272delTGAAAATAACCAC",
"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": [
"3_prime_UTR_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.*382_*394delTGAAAATAACCAC",
"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": [
"3_prime_UTR_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.*1599_*1611delTGAAAATAACCAC",
"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": [
"3_prime_UTR_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.*495_*507delTGAAAATAACCAC",
"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": [
"3_prime_UTR_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.*804_*816delTGAAAATAACCAC",
"hgvs_p": null,
"transcript": "ENST00000676809.1",
"protein_id": "ENSP00000504298.1",
"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": 3273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_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.*491_*503delTGAAAATAACCAC",
"hgvs_p": null,
"transcript": "ENST00000677499.1",
"protein_id": "ENSP00000502875.1",
"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": 3108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_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": "n.*495_*507delTGAAAATAACCAC",
"hgvs_p": null,
"transcript": "ENST00000677831.1",
"protein_id": "ENSP00000503760.1",
"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": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.2066+262_2066+274delTGAAAATAACCAC",
"hgvs_p": null,
"transcript": "ENST00000652657.1",
"protein_id": "ENSP00000498887.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 705,
"cds_start": -4,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"hgvs_c": "c.79-3314_79-3302delTGAAAATAACCAC",
"hgvs_p": null,
"transcript": "ENST00000676587.1",
"protein_id": "ENSP00000504858.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 39,
"cds_start": -4,
"cds_end": null,
"cds_length": 120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TBK1",
"gene_hgnc_id": 11584,
"dbsnp": "rs1131690784",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.756,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PVS1_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000331710.10",
"gene_symbol": "TBK1",
"hgnc_id": 11584,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2115_2127delTGAAAATAACCAC",
"hgvs_p": "p.Glu706fs"
},
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000677093.1",
"gene_symbol": "ENSG00000288665",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.49_61delTGAAAATAACCAC",
"hgvs_p": null
}
],
"clinvar_disease": "Motor neuron disease",
"clinvar_classification": "other",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Motor neuron disease",
"pathogenicity_classification_combined": "other",
"custom_annotations": null
}
],
"message": null
}