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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: 15-74800861-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=74800861&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 74800861,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004383.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSK",
"gene_hgnc_id": 2444,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "NM_004383.3",
"protein_id": "NP_004374.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 450,
"cds_start": 661,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000220003.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004383.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSK",
"gene_hgnc_id": 2444,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "ENST00000220003.14",
"protein_id": "ENSP00000220003.9",
"transcript_support_level": 1,
"aa_start": 221,
"aa_end": null,
"aa_length": 450,
"cds_start": 661,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004383.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000220003.14"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSK",
"gene_hgnc_id": 2444,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "NM_001127190.2",
"protein_id": "NP_001120662.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 450,
"cds_start": 661,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127190.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSK",
"gene_hgnc_id": 2444,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "NM_001354988.2",
"protein_id": "NP_001341917.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 450,
"cds_start": 661,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354988.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSK",
"gene_hgnc_id": 2444,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "NM_001387089.1",
"protein_id": "NP_001374018.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 450,
"cds_start": 661,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387089.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSK",
"gene_hgnc_id": 2444,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "NM_001387090.1",
"protein_id": "NP_001374019.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 450,
"cds_start": 661,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387090.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSK",
"gene_hgnc_id": 2444,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "NM_001387091.1",
"protein_id": "NP_001374020.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 450,
"cds_start": 661,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387091.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSK",
"gene_hgnc_id": 2444,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "NM_001387092.1",
"protein_id": "NP_001374021.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 450,
"cds_start": 661,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387092.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSK",
"gene_hgnc_id": 2444,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "NM_001387093.1",
"protein_id": "NP_001374022.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 450,
"cds_start": 661,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387093.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSK",
"gene_hgnc_id": 2444,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "ENST00000439220.6",
"protein_id": "ENSP00000414764.2",
"transcript_support_level": 2,
"aa_start": 221,
"aa_end": null,
"aa_length": 450,
"cds_start": 661,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439220.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSK",
"gene_hgnc_id": 2444,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "ENST00000567571.5",
"protein_id": "ENSP00000454906.1",
"transcript_support_level": 2,
"aa_start": 221,
"aa_end": null,
"aa_length": 450,
"cds_start": 661,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567571.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSK",
"gene_hgnc_id": 2444,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "ENST00000858351.1",
"protein_id": "ENSP00000528410.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 450,
"cds_start": 661,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858351.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSK",
"gene_hgnc_id": 2444,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "ENST00000858352.1",
"protein_id": "ENSP00000528411.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 450,
"cds_start": 661,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858352.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSK",
"gene_hgnc_id": 2444,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "ENST00000858354.1",
"protein_id": "ENSP00000528413.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 450,
"cds_start": 661,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858354.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSK",
"gene_hgnc_id": 2444,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "ENST00000858355.1",
"protein_id": "ENSP00000528414.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 450,
"cds_start": 661,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858355.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSK",
"gene_hgnc_id": 2444,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "ENST00000858356.1",
"protein_id": "ENSP00000528415.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 450,
"cds_start": 661,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858356.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSK",
"gene_hgnc_id": 2444,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "ENST00000858357.1",
"protein_id": "ENSP00000528416.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 450,
"cds_start": 661,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858357.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSK",
"gene_hgnc_id": 2444,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "ENST00000931146.1",
"protein_id": "ENSP00000601205.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 450,
"cds_start": 661,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931146.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSK",
"gene_hgnc_id": 2444,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "ENST00000951979.1",
"protein_id": "ENSP00000622038.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 450,
"cds_start": 661,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951979.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSK",
"gene_hgnc_id": 2444,
"hgvs_c": "c.658G>A",
"hgvs_p": "p.Val220Ile",
"transcript": "NM_001387094.1",
"protein_id": "NP_001374023.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 449,
"cds_start": 658,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387094.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSK",
"gene_hgnc_id": 2444,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "NM_001387095.1",
"protein_id": "NP_001374024.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 449,
"cds_start": 661,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387095.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSK",
"gene_hgnc_id": 2444,
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile",
"transcript": "NM_001387096.1",
"protein_id": "NP_001374025.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 436,
"cds_start": 661,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387096.1"
},
{
"aa_ref": "V",
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{
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{
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{
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},
{
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"strand": true,
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"non_coding_transcript_exon_variant"
],
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"gene_symbol": "CSK",
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"transcript": "ENST00000568329.5",
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{
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],
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"gene_symbol": "CSK",
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"transcript": "ENST00000569321.1",
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},
{
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"protein_coding": false,
"strand": true,
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],
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"gene_symbol": "CSK",
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"hgvs_c": "n.1367G>A",
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"transcript": "NR_170550.1",
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"biotype": "pseudogene",
"feature": "NR_170550.1"
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],
"gene_symbol": "CSK",
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"dbsnp": "rs971393786",
"frequency_reference_population": 0.0000043389755,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000342217,
"gnomad_genomes_af": 0.0000131387,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6754791736602783,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.39,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1131,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.414,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_004383.3",
"gene_symbol": "CSK",
"hgnc_id": 2444,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.661G>A",
"hgvs_p": "p.Val221Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}