← 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: 3-105702188-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=105702188&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 105702188,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000394030.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"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.1865G>C",
"hgvs_p": "p.Ser622Thr",
"transcript": "NM_170662.5",
"protein_id": "NP_733762.2",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 982,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 6749,
"mane_select": "ENST00000394030.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1865G>C",
"hgvs_p": "p.Ser622Thr",
"transcript": "ENST00000394030.8",
"protein_id": "ENSP00000377598.4",
"transcript_support_level": 1,
"aa_start": 622,
"aa_end": null,
"aa_length": 982,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 6749,
"mane_select": "NM_170662.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1949G>C",
"hgvs_p": "p.Ser650Thr",
"transcript": "NM_001321786.1",
"protein_id": "NP_001308715.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 1010,
"cds_start": 1949,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 2092,
"cdna_end": null,
"cdna_length": 6685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1865G>C",
"hgvs_p": "p.Ser622Thr",
"transcript": "NM_001321788.2",
"protein_id": "NP_001308717.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 982,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 1980,
"cdna_end": null,
"cdna_length": 6573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1949G>C",
"hgvs_p": "p.Ser650Thr",
"transcript": "NM_001321789.1",
"protein_id": "NP_001308718.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 961,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 2030,
"cdna_end": null,
"cdna_length": 6476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1931G>C",
"hgvs_p": "p.Ser644Thr",
"transcript": "NM_001321790.2",
"protein_id": "NP_001308719.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 960,
"cds_start": 1931,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 1944,
"cdna_end": null,
"cdna_length": 6405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1865G>C",
"hgvs_p": "p.Ser622Thr",
"transcript": "NM_001321791.2",
"protein_id": "NP_001308720.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 938,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 1980,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1865G>C",
"hgvs_p": "p.Ser622Thr",
"transcript": "NM_001321793.2",
"protein_id": "NP_001308722.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 938,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 6617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1865G>C",
"hgvs_p": "p.Ser622Thr",
"transcript": "NM_001321794.2",
"protein_id": "NP_001308723.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 933,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1980,
"cdna_end": null,
"cdna_length": 6426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1865G>C",
"hgvs_p": "p.Ser622Thr",
"transcript": "NM_001321795.2",
"protein_id": "NP_001308724.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 933,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 6602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1718G>C",
"hgvs_p": "p.Ser573Thr",
"transcript": "NM_001321796.2",
"protein_id": "NP_001308725.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 933,
"cds_start": 1718,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1833,
"cdna_end": null,
"cdna_length": 6426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1865G>C",
"hgvs_p": "p.Ser622Thr",
"transcript": "NM_001321797.2",
"protein_id": "NP_001308726.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 889,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 1980,
"cdna_end": null,
"cdna_length": 6294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1865G>C",
"hgvs_p": "p.Ser622Thr",
"transcript": "NM_001321798.2",
"protein_id": "NP_001308727.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 889,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 6470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1718G>C",
"hgvs_p": "p.Ser573Thr",
"transcript": "NM_001321799.2",
"protein_id": "NP_001308728.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 889,
"cds_start": 1718,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 2009,
"cdna_end": null,
"cdna_length": 6470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1865G>C",
"hgvs_p": "p.Ser622Thr",
"transcript": "ENST00000405772.5",
"protein_id": "ENSP00000384938.1",
"transcript_support_level": 2,
"aa_start": 622,
"aa_end": null,
"aa_length": 810,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1865G>C",
"hgvs_p": "p.Ser622Thr",
"transcript": "ENST00000403724.5",
"protein_id": "ENSP00000384816.1",
"transcript_support_level": 2,
"aa_start": 622,
"aa_end": null,
"aa_length": 770,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 3350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1085G>C",
"hgvs_p": "p.Ser362Thr",
"transcript": "NM_001321806.2",
"protein_id": "NP_001308735.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 722,
"cds_start": 1085,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 1823,
"cdna_end": null,
"cdna_length": 6416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1085G>C",
"hgvs_p": "p.Ser362Thr",
"transcript": "NM_001321807.2",
"protein_id": "NP_001308736.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 722,
"cds_start": 1085,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 2300,
"cdna_end": null,
"cdna_length": 6893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1085G>C",
"hgvs_p": "p.Ser362Thr",
"transcript": "NM_001321808.2",
"protein_id": "NP_001308737.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 678,
"cds_start": 1085,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 2124,
"cdna_end": null,
"cdna_length": 6585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1085G>C",
"hgvs_p": "p.Ser362Thr",
"transcript": "NM_001321811.2",
"protein_id": "NP_001308740.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 673,
"cds_start": 1085,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1999,
"cdna_end": null,
"cdna_length": 6445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1085G>C",
"hgvs_p": "p.Ser362Thr",
"transcript": "NM_001321813.1",
"protein_id": "NP_001308742.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 673,
"cds_start": 1085,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2068,
"cdna_end": null,
"cdna_length": 6514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1085G>C",
"hgvs_p": "p.Ser362Thr",
"transcript": "NM_001321816.2",
"protein_id": "NP_001308745.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 629,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1999,
"cdna_end": null,
"cdna_length": 6313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.677G>C",
"hgvs_p": "p.Ser226Thr",
"transcript": "NM_001321820.2",
"protein_id": "NP_001308749.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 542,
"cds_start": 677,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 2288,
"cdna_end": null,
"cdna_length": 6749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.536G>C",
"hgvs_p": "p.Ser179Thr",
"transcript": "NM_001321822.2",
"protein_id": "NP_001308751.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 539,
"cds_start": 536,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 2206,
"cdna_end": null,
"cdna_length": 6799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1931G>C",
"hgvs_p": "p.Ser644Thr",
"transcript": "XM_017007395.2",
"protein_id": "XP_016862884.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 1004,
"cds_start": 1931,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 1944,
"cdna_end": null,
"cdna_length": 6537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1865G>C",
"hgvs_p": "p.Ser622Thr",
"transcript": "XM_011513257.2",
"protein_id": "XP_011511559.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 982,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 1904,
"cdna_end": null,
"cdna_length": 6497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1865G>C",
"hgvs_p": "p.Ser622Thr",
"transcript": "XM_047449112.1",
"protein_id": "XP_047305068.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 982,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 1901,
"cdna_end": null,
"cdna_length": 6494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1949G>C",
"hgvs_p": "p.Ser650Thr",
"transcript": "XM_017007396.2",
"protein_id": "XP_016862885.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 966,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2901,
"cdna_start": 2092,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1802G>C",
"hgvs_p": "p.Ser601Thr",
"transcript": "XM_017007397.2",
"protein_id": "XP_016862886.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 961,
"cds_start": 1802,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 6538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1784G>C",
"hgvs_p": "p.Ser595Thr",
"transcript": "XM_017007398.2",
"protein_id": "XP_016862887.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 955,
"cds_start": 1784,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 1797,
"cdna_end": null,
"cdna_length": 6390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1802G>C",
"hgvs_p": "p.Ser601Thr",
"transcript": "XM_017007400.2",
"protein_id": "XP_016862889.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 917,
"cds_start": 1802,
"cds_end": null,
"cds_length": 2754,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 6406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1949G>C",
"hgvs_p": "p.Ser650Thr",
"transcript": "XM_047449113.1",
"protein_id": "XP_047305069.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 898,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 2092,
"cdna_end": null,
"cdna_length": 2891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1949G>C",
"hgvs_p": "p.Ser650Thr",
"transcript": "XM_047449114.1",
"protein_id": "XP_047305070.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 897,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2694,
"cdna_start": 2092,
"cdna_end": null,
"cdna_length": 2888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1949G>C",
"hgvs_p": "p.Ser650Thr",
"transcript": "XM_011513259.4",
"protein_id": "XP_011511561.2",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 894,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2685,
"cdna_start": 2092,
"cdna_end": null,
"cdna_length": 4179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1409G>C",
"hgvs_p": "p.Ser470Thr",
"transcript": "XM_047449115.1",
"protein_id": "XP_047305071.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 830,
"cds_start": 1409,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1470,
"cdna_end": null,
"cdna_length": 6063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1409G>C",
"hgvs_p": "p.Ser470Thr",
"transcript": "XM_047449116.1",
"protein_id": "XP_047305072.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 830,
"cds_start": 1409,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 1583,
"cdna_end": null,
"cdna_length": 6176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1865G>C",
"hgvs_p": "p.Ser622Thr",
"transcript": "XM_047449117.1",
"protein_id": "XP_047305073.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 826,
"cds_start": 1865,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 1980,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"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.1085G>C",
"hgvs_p": "p.Ser362Thr",
"transcript": "XM_047449118.1",
"protein_id": "XP_047305074.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 722,
"cds_start": 1085,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 1320,
"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.1931G>C",
"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.1865G>C",
"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.*1408G>C",
"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.*1481G>C",
"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.1865G>C",
"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.2288G>C",
"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.2204G>C",
"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.2156G>C",
"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.2270G>C",
"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.1944G>C",
"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.1980G>C",
"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.1907G>C",
"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.2092G>C",
"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.2092G>C",
"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.*1408G>C",
"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.*1481G>C",
"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.-14G>C",
"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": "rs41302192",
"frequency_reference_population": 0.0065267114,
"hom_count_reference_population": 68,
"allele_count_reference_population": 10535,
"gnomad_exomes_af": 0.00672969,
"gnomad_genomes_af": 0.00457782,
"gnomad_exomes_ac": 9838,
"gnomad_genomes_ac": 697,
"gnomad_exomes_homalt": 64,
"gnomad_genomes_homalt": 4,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0064592063426971436,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.177,
"revel_prediction": "Benign",
"alphamissense_score": 0.0619,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.588,
"phylop100way_prediction": "Benign",
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000394030.8",
"gene_symbol": "CBLB",
"hgnc_id": 1542,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1865G>C",
"hgvs_p": "p.Ser622Thr"
}
],
"clinvar_disease": "CBLB-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:2 O:1",
"phenotype_combined": "not specified|not provided|CBLB-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}