← 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: 3-105702383-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=105702383&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 105702383,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000394030.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1670C>T",
"hgvs_p": "p.Pro557Leu",
"transcript": "NM_170662.5",
"protein_id": "NP_733762.2",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 982,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 1961,
"cdna_end": null,
"cdna_length": 6749,
"mane_select": "ENST00000394030.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1670C>T",
"hgvs_p": "p.Pro557Leu",
"transcript": "ENST00000394030.8",
"protein_id": "ENSP00000377598.4",
"transcript_support_level": 1,
"aa_start": 557,
"aa_end": null,
"aa_length": 982,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 1961,
"cdna_end": null,
"cdna_length": 6749,
"mane_select": "NM_170662.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1754C>T",
"hgvs_p": "p.Pro585Leu",
"transcript": "NM_001321786.1",
"protein_id": "NP_001308715.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 1010,
"cds_start": 1754,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 6685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1670C>T",
"hgvs_p": "p.Pro557Leu",
"transcript": "NM_001321788.2",
"protein_id": "NP_001308717.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 982,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 6573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1754C>T",
"hgvs_p": "p.Pro585Leu",
"transcript": "NM_001321789.1",
"protein_id": "NP_001308718.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 961,
"cds_start": 1754,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 6476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Pro579Leu",
"transcript": "NM_001321790.2",
"protein_id": "NP_001308719.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 960,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 6405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1670C>T",
"hgvs_p": "p.Pro557Leu",
"transcript": "NM_001321791.2",
"protein_id": "NP_001308720.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 938,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1670C>T",
"hgvs_p": "p.Pro557Leu",
"transcript": "NM_001321793.2",
"protein_id": "NP_001308722.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 938,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 1961,
"cdna_end": null,
"cdna_length": 6617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1670C>T",
"hgvs_p": "p.Pro557Leu",
"transcript": "NM_001321794.2",
"protein_id": "NP_001308723.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 933,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 6426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1670C>T",
"hgvs_p": "p.Pro557Leu",
"transcript": "NM_001321795.2",
"protein_id": "NP_001308724.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 933,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1961,
"cdna_end": null,
"cdna_length": 6602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1523C>T",
"hgvs_p": "p.Pro508Leu",
"transcript": "NM_001321796.2",
"protein_id": "NP_001308725.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 933,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 6426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1670C>T",
"hgvs_p": "p.Pro557Leu",
"transcript": "NM_001321797.2",
"protein_id": "NP_001308726.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 889,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 6294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1670C>T",
"hgvs_p": "p.Pro557Leu",
"transcript": "NM_001321798.2",
"protein_id": "NP_001308727.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 889,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 1961,
"cdna_end": null,
"cdna_length": 6470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1523C>T",
"hgvs_p": "p.Pro508Leu",
"transcript": "NM_001321799.2",
"protein_id": "NP_001308728.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 889,
"cds_start": 1523,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 1814,
"cdna_end": null,
"cdna_length": 6470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1670C>T",
"hgvs_p": "p.Pro557Leu",
"transcript": "ENST00000405772.5",
"protein_id": "ENSP00000384938.1",
"transcript_support_level": 2,
"aa_start": 557,
"aa_end": null,
"aa_length": 810,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1670C>T",
"hgvs_p": "p.Pro557Leu",
"transcript": "ENST00000403724.5",
"protein_id": "ENSP00000384816.1",
"transcript_support_level": 2,
"aa_start": 557,
"aa_end": null,
"aa_length": 770,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 3350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.890C>T",
"hgvs_p": "p.Pro297Leu",
"transcript": "NM_001321806.2",
"protein_id": "NP_001308735.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 722,
"cds_start": 890,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 6416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.890C>T",
"hgvs_p": "p.Pro297Leu",
"transcript": "NM_001321807.2",
"protein_id": "NP_001308736.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 722,
"cds_start": 890,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2105,
"cdna_end": null,
"cdna_length": 6893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.890C>T",
"hgvs_p": "p.Pro297Leu",
"transcript": "NM_001321808.2",
"protein_id": "NP_001308737.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 678,
"cds_start": 890,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1929,
"cdna_end": null,
"cdna_length": 6585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.890C>T",
"hgvs_p": "p.Pro297Leu",
"transcript": "NM_001321811.2",
"protein_id": "NP_001308740.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 673,
"cds_start": 890,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 6445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.890C>T",
"hgvs_p": "p.Pro297Leu",
"transcript": "NM_001321813.1",
"protein_id": "NP_001308742.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 673,
"cds_start": 890,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1873,
"cdna_end": null,
"cdna_length": 6514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.890C>T",
"hgvs_p": "p.Pro297Leu",
"transcript": "NM_001321816.2",
"protein_id": "NP_001308745.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 629,
"cds_start": 890,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 6313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.482C>T",
"hgvs_p": "p.Pro161Leu",
"transcript": "NM_001321820.2",
"protein_id": "NP_001308749.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 542,
"cds_start": 482,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 6749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Pro114Leu",
"transcript": "NM_001321822.2",
"protein_id": "NP_001308751.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 539,
"cds_start": 341,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 2011,
"cdna_end": null,
"cdna_length": 6799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Pro579Leu",
"transcript": "XM_017007395.2",
"protein_id": "XP_016862884.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 1004,
"cds_start": 1736,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 6537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1670C>T",
"hgvs_p": "p.Pro557Leu",
"transcript": "XM_011513257.2",
"protein_id": "XP_011511559.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 982,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 1709,
"cdna_end": null,
"cdna_length": 6497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1670C>T",
"hgvs_p": "p.Pro557Leu",
"transcript": "XM_047449112.1",
"protein_id": "XP_047305068.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 982,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 1706,
"cdna_end": null,
"cdna_length": 6494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1754C>T",
"hgvs_p": "p.Pro585Leu",
"transcript": "XM_017007396.2",
"protein_id": "XP_016862885.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 966,
"cds_start": 1754,
"cds_end": null,
"cds_length": 2901,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1607C>T",
"hgvs_p": "p.Pro536Leu",
"transcript": "XM_017007397.2",
"protein_id": "XP_016862886.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 961,
"cds_start": 1607,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 1750,
"cdna_end": null,
"cdna_length": 6538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1589C>T",
"hgvs_p": "p.Pro530Leu",
"transcript": "XM_017007398.2",
"protein_id": "XP_016862887.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 955,
"cds_start": 1589,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 1602,
"cdna_end": null,
"cdna_length": 6390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1607C>T",
"hgvs_p": "p.Pro536Leu",
"transcript": "XM_017007400.2",
"protein_id": "XP_016862889.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 917,
"cds_start": 1607,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 1750,
"cdna_end": null,
"cdna_length": 6406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1754C>T",
"hgvs_p": "p.Pro585Leu",
"transcript": "XM_047449113.1",
"protein_id": "XP_047305069.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 898,
"cds_start": 1754,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 2891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1754C>T",
"hgvs_p": "p.Pro585Leu",
"transcript": "XM_047449114.1",
"protein_id": "XP_047305070.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 897,
"cds_start": 1754,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 2888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1754C>T",
"hgvs_p": "p.Pro585Leu",
"transcript": "XM_011513259.4",
"protein_id": "XP_011511561.2",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 894,
"cds_start": 1754,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 4179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1214C>T",
"hgvs_p": "p.Pro405Leu",
"transcript": "XM_047449115.1",
"protein_id": "XP_047305071.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 830,
"cds_start": 1214,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 6063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1214C>T",
"hgvs_p": "p.Pro405Leu",
"transcript": "XM_047449116.1",
"protein_id": "XP_047305072.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 830,
"cds_start": 1214,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 6176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1670C>T",
"hgvs_p": "p.Pro557Leu",
"transcript": "XM_047449117.1",
"protein_id": "XP_047305073.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 826,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1785,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.890C>T",
"hgvs_p": "p.Pro297Leu",
"transcript": "XM_047449118.1",
"protein_id": "XP_047305074.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 722,
"cds_start": 890,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 5913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "n.1736C>T",
"hgvs_p": null,
"transcript": "ENST00000643322.1",
"protein_id": "ENSP00000496352.1",
"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": 3706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "n.1670C>T",
"hgvs_p": null,
"transcript": "ENST00000645425.1",
"protein_id": "ENSP00000494383.1",
"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": 3861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "n.*1213C>T",
"hgvs_p": null,
"transcript": "ENST00000645759.1",
"protein_id": "ENSP00000496297.1",
"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": 6755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "n.*1286C>T",
"hgvs_p": null,
"transcript": "ENST00000646499.1",
"protein_id": "ENSP00000496708.1",
"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": 3964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "n.1670C>T",
"hgvs_p": null,
"transcript": "ENST00000646825.1",
"protein_id": "ENSP00000496761.1",
"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": 3669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "n.2093C>T",
"hgvs_p": null,
"transcript": "NR_135806.2",
"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": 6974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "n.2009C>T",
"hgvs_p": null,
"transcript": "NR_135807.2",
"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": 6820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "n.1961C>T",
"hgvs_p": null,
"transcript": "NR_135808.2",
"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": 6775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "n.2075C>T",
"hgvs_p": null,
"transcript": "NR_135809.2",
"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": 6731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "n.1749C>T",
"hgvs_p": null,
"transcript": "NR_135810.2",
"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": 6686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "n.1785C>T",
"hgvs_p": null,
"transcript": "NR_135811.2",
"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": 6596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "n.1712C>T",
"hgvs_p": null,
"transcript": "NR_135812.1",
"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": 6486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "n.1897C>T",
"hgvs_p": null,
"transcript": "XR_007095761.1",
"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": 2981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "n.1897C>T",
"hgvs_p": null,
"transcript": "XR_007095762.1",
"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": 2984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "n.*1213C>T",
"hgvs_p": null,
"transcript": "ENST00000645759.1",
"protein_id": "ENSP00000496297.1",
"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": 6755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "n.*1286C>T",
"hgvs_p": null,
"transcript": "ENST00000646499.1",
"protein_id": "ENSP00000496708.1",
"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": 3964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "n.-209C>T",
"hgvs_p": null,
"transcript": "ENST00000642241.1",
"protein_id": "ENSP00000494262.1",
"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": 1924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"dbsnp": "rs148064625",
"frequency_reference_population": 0.00012844952,
"hom_count_reference_population": 0,
"allele_count_reference_population": 207,
"gnomad_exomes_af": 0.00012046,
"gnomad_genomes_af": 0.000206038,
"gnomad_exomes_ac": 176,
"gnomad_genomes_ac": 31,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4575769901275635,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.467,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1575,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.244,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000394030.8",
"gene_symbol": "CBLB",
"hgnc_id": 1542,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1670C>T",
"hgvs_p": "p.Pro557Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}