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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-105745941-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=105745941&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 105745941,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000394030.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.821A>C",
"hgvs_p": "p.Gln274Pro",
"transcript": "NM_170662.5",
"protein_id": "NP_733762.2",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 982,
"cds_start": 821,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 6749,
"mane_select": "ENST00000394030.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.821A>C",
"hgvs_p": "p.Gln274Pro",
"transcript": "ENST00000394030.8",
"protein_id": "ENSP00000377598.4",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 982,
"cds_start": 821,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 6749,
"mane_select": "NM_170662.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.905A>C",
"hgvs_p": "p.Gln302Pro",
"transcript": "NM_001321786.1",
"protein_id": "NP_001308715.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 1010,
"cds_start": 905,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 6685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.821A>C",
"hgvs_p": "p.Gln274Pro",
"transcript": "NM_001321788.2",
"protein_id": "NP_001308717.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 982,
"cds_start": 821,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 6573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.905A>C",
"hgvs_p": "p.Gln302Pro",
"transcript": "NM_001321789.1",
"protein_id": "NP_001308718.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 961,
"cds_start": 905,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 6476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.887A>C",
"hgvs_p": "p.Gln296Pro",
"transcript": "NM_001321790.2",
"protein_id": "NP_001308719.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 960,
"cds_start": 887,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 6405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.821A>C",
"hgvs_p": "p.Gln274Pro",
"transcript": "NM_001321791.2",
"protein_id": "NP_001308720.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 938,
"cds_start": 821,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.821A>C",
"hgvs_p": "p.Gln274Pro",
"transcript": "NM_001321793.2",
"protein_id": "NP_001308722.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 938,
"cds_start": 821,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 6617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.821A>C",
"hgvs_p": "p.Gln274Pro",
"transcript": "NM_001321794.2",
"protein_id": "NP_001308723.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 933,
"cds_start": 821,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 6426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.821A>C",
"hgvs_p": "p.Gln274Pro",
"transcript": "NM_001321795.2",
"protein_id": "NP_001308724.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 933,
"cds_start": 821,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 6602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.674A>C",
"hgvs_p": "p.Gln225Pro",
"transcript": "NM_001321796.2",
"protein_id": "NP_001308725.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 933,
"cds_start": 674,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 6426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.821A>C",
"hgvs_p": "p.Gln274Pro",
"transcript": "NM_001321797.2",
"protein_id": "NP_001308726.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 889,
"cds_start": 821,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 6294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.821A>C",
"hgvs_p": "p.Gln274Pro",
"transcript": "NM_001321798.2",
"protein_id": "NP_001308727.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 889,
"cds_start": 821,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 6470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.674A>C",
"hgvs_p": "p.Gln225Pro",
"transcript": "NM_001321799.2",
"protein_id": "NP_001308728.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 889,
"cds_start": 674,
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"cds_length": 2670,
"cdna_start": 965,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.821A>C",
"hgvs_p": "p.Gln274Pro",
"transcript": "ENST00000405772.5",
"protein_id": "ENSP00000384938.1",
"transcript_support_level": 2,
"aa_start": 274,
"aa_end": null,
"aa_length": 810,
"cds_start": 821,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.821A>C",
"hgvs_p": "p.Gln274Pro",
"transcript": "ENST00000403724.5",
"protein_id": "ENSP00000384816.1",
"transcript_support_level": 2,
"aa_start": 274,
"aa_end": null,
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"cds_start": 821,
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"cdna_start": 1143,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "NM_001321806.2",
"protein_id": "NP_001308735.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 722,
"cds_start": 41,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 6416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "NM_001321807.2",
"protein_id": "NP_001308736.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 722,
"cds_start": 41,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 1256,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "NM_001321808.2",
"protein_id": "NP_001308737.1",
"transcript_support_level": null,
"aa_start": 14,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "NM_001321811.2",
"protein_id": "NP_001308740.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 673,
"cds_start": 41,
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"cdna_start": 955,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "NM_001321813.1",
"protein_id": "NP_001308742.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 673,
"cds_start": 41,
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"cds_length": 2022,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 6514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "NM_001321816.2",
"protein_id": "NP_001308745.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 629,
"cds_start": 41,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 955,
"cdna_end": null,
"cdna_length": 6313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
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},
{
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},
{
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
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"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 7,
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"gene_symbol": "CBLB",
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"transcript": "NM_001321820.2",
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},
{
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"protein_coding": true,
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"5_prime_UTR_variant"
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"gene_symbol": "CBLB",
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"transcript": "NM_001321822.2",
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},
{
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "CBLB",
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"hgvs_c": "n.*200A>C",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
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"gene_symbol": "CBLB",
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"hgvs_c": "n.*437A>C",
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"transcript": "ENST00000646499.1",
"protein_id": "ENSP00000496708.1",
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}
],
"gene_symbol": "CBLB",
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"dbsnp": "rs587778165",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8608664274215698,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.783,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9777,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.184,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000394030.8",
"gene_symbol": "CBLB",
"hgnc_id": 1542,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.821A>C",
"hgvs_p": "p.Gln274Pro"
}
],
"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
}