← 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: 17-17847639-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17847639&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17847639,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001350332.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1520T>G",
"hgvs_p": "p.Leu507Arg",
"transcript": "NM_001082968.2",
"protein_id": "NP_001076437.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 507,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379504.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001082968.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1520T>G",
"hgvs_p": "p.Leu507Arg",
"transcript": "ENST00000379504.8",
"protein_id": "ENSP00000368818.3",
"transcript_support_level": 2,
"aa_start": 507,
"aa_end": null,
"aa_length": 507,
"cds_start": 1520,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001082968.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379504.8"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1370T>G",
"hgvs_p": "p.Leu457Arg",
"transcript": "ENST00000581396.6",
"protein_id": "ENSP00000464297.1",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 457,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581396.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1775T>G",
"hgvs_p": "p.Leu592Arg",
"transcript": "ENST00000890541.1",
"protein_id": "ENSP00000560600.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 592,
"cds_start": 1775,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890541.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1763T>G",
"hgvs_p": "p.Leu588Arg",
"transcript": "ENST00000890561.1",
"protein_id": "ENSP00000560620.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 588,
"cds_start": 1763,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890561.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1628T>G",
"hgvs_p": "p.Leu543Arg",
"transcript": "ENST00000890555.1",
"protein_id": "ENSP00000560614.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 543,
"cds_start": 1628,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890555.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1607T>G",
"hgvs_p": "p.Leu536Arg",
"transcript": "NM_001350332.2",
"protein_id": "NP_001337261.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 536,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350332.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1607T>G",
"hgvs_p": "p.Leu536Arg",
"transcript": "ENST00000890527.1",
"protein_id": "ENSP00000560585.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 536,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890527.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1604T>G",
"hgvs_p": "p.Leu535Arg",
"transcript": "ENST00000890553.1",
"protein_id": "ENSP00000560612.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 535,
"cds_start": 1604,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890553.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1589T>G",
"hgvs_p": "p.Leu530Arg",
"transcript": "ENST00000890559.1",
"protein_id": "ENSP00000560618.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 530,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890559.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1586T>G",
"hgvs_p": "p.Leu529Arg",
"transcript": "ENST00000890537.1",
"protein_id": "ENSP00000560595.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 529,
"cds_start": 1586,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890537.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1586T>G",
"hgvs_p": "p.Leu529Arg",
"transcript": "ENST00000950983.1",
"protein_id": "ENSP00000621042.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 529,
"cds_start": 1586,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950983.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1583T>G",
"hgvs_p": "p.Leu528Arg",
"transcript": "ENST00000890535.1",
"protein_id": "ENSP00000560594.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 528,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890535.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1568T>G",
"hgvs_p": "p.Leu523Arg",
"transcript": "ENST00000950984.1",
"protein_id": "ENSP00000621043.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 523,
"cds_start": 1568,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950984.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1517T>G",
"hgvs_p": "p.Leu506Arg",
"transcript": "ENST00000890538.1",
"protein_id": "ENSP00000560596.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 506,
"cds_start": 1517,
"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": "ENST00000890538.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1472T>G",
"hgvs_p": "p.Leu491Arg",
"transcript": "ENST00000890534.1",
"protein_id": "ENSP00000560592.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 491,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890534.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1460T>G",
"hgvs_p": "p.Leu487Arg",
"transcript": "NM_001350333.2",
"protein_id": "NP_001337262.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 487,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350333.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1460T>G",
"hgvs_p": "p.Leu487Arg",
"transcript": "ENST00000890524.1",
"protein_id": "ENSP00000560582.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 487,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890524.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1457T>G",
"hgvs_p": "p.Leu486Arg",
"transcript": "ENST00000890539.1",
"protein_id": "ENSP00000560598.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 486,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890539.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1451T>G",
"hgvs_p": "p.Leu484Arg",
"transcript": "ENST00000890549.1",
"protein_id": "ENSP00000560607.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 484,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890549.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1448T>G",
"hgvs_p": "p.Leu483Arg",
"transcript": "NM_001288786.2",
"protein_id": "NP_001275715.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 483,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288786.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1448T>G",
"hgvs_p": "p.Leu483Arg",
"transcript": "ENST00000535933.5",
"protein_id": "ENSP00000438621.1",
"transcript_support_level": 2,
"aa_start": 483,
"aa_end": null,
"aa_length": 483,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535933.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1442T>G",
"hgvs_p": "p.Leu481Arg",
"transcript": "ENST00000890545.1",
"protein_id": "ENSP00000560603.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 481,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890545.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1385T>G",
"hgvs_p": "p.Leu462Arg",
"transcript": "NM_001288787.2",
"protein_id": "NP_001275716.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 462,
"cds_start": 1385,
"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": "NM_001288787.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1385T>G",
"hgvs_p": "p.Leu462Arg",
"transcript": "ENST00000318094.14",
"protein_id": "ENSP00000312860.10",
"transcript_support_level": 2,
"aa_start": 462,
"aa_end": null,
"aa_length": 462,
"cds_start": 1385,
"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": "ENST00000318094.14"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1385T>G",
"hgvs_p": "p.Leu462Arg",
"transcript": "ENST00000395739.8",
"protein_id": "ENSP00000379088.4",
"transcript_support_level": 2,
"aa_start": 462,
"aa_end": null,
"aa_length": 462,
"cds_start": 1385,
"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": "ENST00000395739.8"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1370T>G",
"hgvs_p": "p.Leu457Arg",
"transcript": "NM_001033551.3",
"protein_id": "NP_001028723.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 457,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033551.3"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1325T>G",
"hgvs_p": "p.Leu442Arg",
"transcript": "NM_001350331.2",
"protein_id": "NP_001337260.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 442,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350331.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1325T>G",
"hgvs_p": "p.Leu442Arg",
"transcript": "ENST00000890550.1",
"protein_id": "ENSP00000560609.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 442,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890550.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1322T>G",
"hgvs_p": "p.Leu441Arg",
"transcript": "ENST00000890546.1",
"protein_id": "ENSP00000560604.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 441,
"cds_start": 1322,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890546.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1313T>G",
"hgvs_p": "p.Leu438Arg",
"transcript": "ENST00000890525.1",
"protein_id": "ENSP00000560584.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 438,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890525.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1301T>G",
"hgvs_p": "p.Leu434Arg",
"transcript": "ENST00000890547.1",
"protein_id": "ENSP00000560606.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 434,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890547.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1298T>G",
"hgvs_p": "p.Leu433Arg",
"transcript": "ENST00000890543.1",
"protein_id": "ENSP00000560602.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 433,
"cds_start": 1298,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890543.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1292T>G",
"hgvs_p": "p.Leu431Arg",
"transcript": "ENST00000890560.1",
"protein_id": "ENSP00000560619.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 431,
"cds_start": 1292,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890560.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1175T>G",
"hgvs_p": "p.Leu392Arg",
"transcript": "ENST00000890557.1",
"protein_id": "ENSP00000560617.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 392,
"cds_start": 1175,
"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": "ENST00000890557.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1166T>G",
"hgvs_p": "p.Leu389Arg",
"transcript": "NM_001288788.2",
"protein_id": "NP_001275717.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 389,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288788.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1166T>G",
"hgvs_p": "p.Leu389Arg",
"transcript": "ENST00000540946.5",
"protein_id": "ENSP00000437655.1",
"transcript_support_level": 2,
"aa_start": 389,
"aa_end": null,
"aa_length": 389,
"cds_start": 1166,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540946.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1163T>G",
"hgvs_p": "p.Leu388Arg",
"transcript": "NM_001288789.2",
"protein_id": "NP_001275718.1",
"transcript_support_level": null,
"aa_start": 388,
"aa_end": null,
"aa_length": 388,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288789.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1163T>G",
"hgvs_p": "p.Leu388Arg",
"transcript": "ENST00000542206.5",
"protein_id": "ENSP00000445188.1",
"transcript_support_level": 2,
"aa_start": 388,
"aa_end": null,
"aa_length": 388,
"cds_start": 1163,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542206.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1019T>G",
"hgvs_p": "p.Leu340Arg",
"transcript": "ENST00000890532.1",
"protein_id": "ENSP00000560591.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 340,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890532.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1016T>G",
"hgvs_p": "p.Leu339Arg",
"transcript": "ENST00000890528.1",
"protein_id": "ENSP00000560587.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 339,
"cds_start": 1016,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890528.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.719T>G",
"hgvs_p": "p.Leu240Arg",
"transcript": "ENST00000478943.5",
"protein_id": "ENSP00000463313.1",
"transcript_support_level": 2,
"aa_start": 240,
"aa_end": null,
"aa_length": 240,
"cds_start": 719,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478943.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1472T>G",
"hgvs_p": "p.Leu491Arg",
"transcript": "XM_005256462.2",
"protein_id": "XP_005256519.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 491,
"cds_start": 1472,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256462.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1457T>G",
"hgvs_p": "p.Leu486Arg",
"transcript": "XM_011523662.2",
"protein_id": "XP_011521964.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 486,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523662.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1361T>G",
"hgvs_p": "p.Leu454Arg",
"transcript": "XM_047435385.1",
"protein_id": "XP_047291341.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 454,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435385.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1313T>G",
"hgvs_p": "p.Leu438Arg",
"transcript": "XM_005256466.2",
"protein_id": "XP_005256523.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 438,
"cds_start": 1313,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005256466.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1310T>G",
"hgvs_p": "p.Leu437Arg",
"transcript": "XM_047435386.1",
"protein_id": "XP_047291342.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 437,
"cds_start": 1310,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435386.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1301T>G",
"hgvs_p": "p.Leu434Arg",
"transcript": "XM_024450589.2",
"protein_id": "XP_024306357.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 434,
"cds_start": 1301,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450589.2"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1226T>G",
"hgvs_p": "p.Leu409Arg",
"transcript": "XM_047435388.1",
"protein_id": "XP_047291344.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 409,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435388.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"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": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "c.1211T>G",
"hgvs_p": "p.Leu404Arg",
"transcript": "XM_047435389.1",
"protein_id": "XP_047291345.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 404,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435389.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "n.593T>G",
"hgvs_p": null,
"transcript": "ENST00000486413.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000486413.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"hgvs_c": "n.272T>G",
"hgvs_p": null,
"transcript": "ENST00000577794.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "retained_intron",
"feature": "ENST00000577794.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000301763",
"gene_hgnc_id": null,
"hgvs_c": "n.67+5030A>C",
"hgvs_p": null,
"transcript": "ENST00000781607.1",
"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": "ENST00000781607.1"
}
],
"gene_symbol": "TOM1L2",
"gene_hgnc_id": 11984,
"dbsnp": "rs886209868",
"frequency_reference_population": 0.000006217668,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000618078,
"gnomad_genomes_af": 0.00000657065,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7795978784561157,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.41999998688697815,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.656,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7994,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.571,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.42,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001350332.2",
"gene_symbol": "TOM1L2",
"hgnc_id": 11984,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1607T>G",
"hgvs_p": "p.Leu536Arg"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000781607.1",
"gene_symbol": "ENSG00000301763",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.67+5030A>C",
"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
}