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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: 17-79940998-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=79940998&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 79940998,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_019020.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2165C>A",
"hgvs_p": "p.Ala722Glu",
"transcript": "NM_019020.4",
"protein_id": "NP_061893.2",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 767,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000310924.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019020.4"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2165C>A",
"hgvs_p": "p.Ala722Glu",
"transcript": "ENST00000310924.7",
"protein_id": "ENSP00000309794.2",
"transcript_support_level": 1,
"aa_start": 722,
"aa_end": null,
"aa_length": 767,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_019020.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310924.7"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1079C>A",
"hgvs_p": "p.Ala360Glu",
"transcript": "ENST00000340848.11",
"protein_id": "ENSP00000341517.7",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 405,
"cds_start": 1079,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340848.11"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1040C>A",
"hgvs_p": "p.Ala347Glu",
"transcript": "ENST00000576768.5",
"protein_id": "ENSP00000461522.1",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 392,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576768.5"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2375C>A",
"hgvs_p": "p.Ala792Glu",
"transcript": "ENST00000926258.1",
"protein_id": "ENSP00000596317.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 837,
"cds_start": 2375,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926258.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2372C>A",
"hgvs_p": "p.Ala791Glu",
"transcript": "ENST00000926255.1",
"protein_id": "ENSP00000596314.1",
"transcript_support_level": null,
"aa_start": 791,
"aa_end": null,
"aa_length": 836,
"cds_start": 2372,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926255.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2336C>A",
"hgvs_p": "p.Ala779Glu",
"transcript": "ENST00000926253.1",
"protein_id": "ENSP00000596312.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 824,
"cds_start": 2336,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926253.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2333C>A",
"hgvs_p": "p.Ala778Glu",
"transcript": "ENST00000968563.1",
"protein_id": "ENSP00000638622.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 823,
"cds_start": 2333,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968563.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2291C>A",
"hgvs_p": "p.Ala764Glu",
"transcript": "ENST00000926262.1",
"protein_id": "ENSP00000596321.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 809,
"cds_start": 2291,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926262.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2165C>A",
"hgvs_p": "p.Ala722Glu",
"transcript": "ENST00000910406.1",
"protein_id": "ENSP00000580465.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 767,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910406.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2165C>A",
"hgvs_p": "p.Ala722Glu",
"transcript": "ENST00000926254.1",
"protein_id": "ENSP00000596313.1",
"transcript_support_level": null,
"aa_start": 722,
"aa_end": null,
"aa_length": 767,
"cds_start": 2165,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926254.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2162C>A",
"hgvs_p": "p.Ala721Glu",
"transcript": "ENST00000910405.1",
"protein_id": "ENSP00000580464.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 766,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910405.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2162C>A",
"hgvs_p": "p.Ala721Glu",
"transcript": "ENST00000910407.1",
"protein_id": "ENSP00000580466.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 766,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910407.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2162C>A",
"hgvs_p": "p.Ala721Glu",
"transcript": "ENST00000926257.1",
"protein_id": "ENSP00000596316.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 766,
"cds_start": 2162,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926257.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2123C>A",
"hgvs_p": "p.Ala708Glu",
"transcript": "ENST00000926252.1",
"protein_id": "ENSP00000596311.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 753,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926252.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2123C>A",
"hgvs_p": "p.Ala708Glu",
"transcript": "ENST00000926260.1",
"protein_id": "ENSP00000596319.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 753,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926260.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2123C>A",
"hgvs_p": "p.Ala708Glu",
"transcript": "ENST00000926261.1",
"protein_id": "ENSP00000596320.1",
"transcript_support_level": null,
"aa_start": 708,
"aa_end": null,
"aa_length": 753,
"cds_start": 2123,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926261.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2120C>A",
"hgvs_p": "p.Ala707Glu",
"transcript": "ENST00000910404.1",
"protein_id": "ENSP00000580463.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 752,
"cds_start": 2120,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910404.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.2117C>A",
"hgvs_p": "p.Ala706Glu",
"transcript": "ENST00000926256.1",
"protein_id": "ENSP00000596315.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 751,
"cds_start": 2117,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926256.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1985C>A",
"hgvs_p": "p.Ala662Glu",
"transcript": "ENST00000926259.1",
"protein_id": "ENSP00000596318.1",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 707,
"cds_start": 1985,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926259.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1982C>A",
"hgvs_p": "p.Ala661Glu",
"transcript": "ENST00000926263.1",
"protein_id": "ENSP00000596322.1",
"transcript_support_level": null,
"aa_start": 661,
"aa_end": null,
"aa_length": 706,
"cds_start": 1982,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926263.1"
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1982C>A",
"hgvs_p": "p.Ala661Glu",
"transcript": "ENST00000926264.1",
"protein_id": "ENSP00000596323.1",
"transcript_support_level": null,
"aa_start": 661,
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"hgvs_c": "c.1382C>A",
"hgvs_p": "p.Ala461Glu",
"transcript": "XM_047435357.1",
"protein_id": "XP_047291313.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 506,
"cds_start": 1382,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435357.1"
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
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"hgvs_c": "c.1250C>A",
"hgvs_p": "p.Ala417Glu",
"transcript": "XM_047435358.1",
"protein_id": "XP_047291314.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 462,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435358.1"
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1247C>A",
"hgvs_p": "p.Ala416Glu",
"transcript": "XM_047435359.1",
"protein_id": "XP_047291315.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 461,
"cds_start": 1247,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435359.1"
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
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"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"hgvs_c": "c.1223C>A",
"hgvs_p": "p.Ala408Glu",
"transcript": "XM_024450582.2",
"protein_id": "XP_024306350.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 453,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450582.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LINC01978",
"gene_hgnc_id": 52806,
"hgvs_c": "n.369+537G>T",
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"transcript": "ENST00000771062.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000771062.1"
}
],
"gene_symbol": "TBC1D16",
"gene_hgnc_id": 28356,
"dbsnp": "rs759693304",
"frequency_reference_population": 0.000006181565,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000618156,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18537044525146484,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.245,
"revel_prediction": "Benign",
"alphamissense_score": 0.2089,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.195,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"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": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_019020.4",
"gene_symbol": "TBC1D16",
"hgnc_id": 28356,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2165C>A",
"hgvs_p": "p.Ala722Glu"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000771062.1",
"gene_symbol": "LINC01978",
"hgnc_id": 52806,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.369+537G>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}