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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: 12-70329477-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=70329477&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 70329477,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014515.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98His",
"transcript": "NM_014515.7",
"protein_id": "NP_055330.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 540,
"cds_start": 293,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000229195.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014515.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98His",
"transcript": "ENST00000229195.8",
"protein_id": "ENSP00000229195.3",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 540,
"cds_start": 293,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014515.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229195.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98His",
"transcript": "ENST00000418359.7",
"protein_id": "ENSP00000412091.3",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 540,
"cds_start": 293,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418359.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89His",
"transcript": "ENST00000548159.5",
"protein_id": "ENSP00000449659.1",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 530,
"cds_start": 266,
"cds_end": null,
"cds_length": 1594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548159.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98His",
"transcript": "NM_001199302.2",
"protein_id": "NP_001186231.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 540,
"cds_start": 293,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199302.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98His",
"transcript": "NM_001199303.2",
"protein_id": "NP_001186232.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 540,
"cds_start": 293,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199303.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98His",
"transcript": "NM_001414651.1",
"protein_id": "NP_001401580.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 540,
"cds_start": 293,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414651.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98His",
"transcript": "ENST00000868453.1",
"protein_id": "ENSP00000538512.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 540,
"cds_start": 293,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868453.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98His",
"transcript": "ENST00000868454.1",
"protein_id": "ENSP00000538513.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 540,
"cds_start": 293,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868454.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98His",
"transcript": "ENST00000868455.1",
"protein_id": "ENSP00000538514.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 540,
"cds_start": 293,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868455.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98His",
"transcript": "ENST00000932301.1",
"protein_id": "ENSP00000602360.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 540,
"cds_start": 293,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932301.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98His",
"transcript": "ENST00000953274.1",
"protein_id": "ENSP00000623333.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 540,
"cds_start": 293,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953274.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98His",
"transcript": "ENST00000551043.5",
"protein_id": "ENSP00000449260.1",
"transcript_support_level": 2,
"aa_start": 98,
"aa_end": null,
"aa_length": 539,
"cds_start": 293,
"cds_end": null,
"cds_length": 1621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551043.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98His",
"transcript": "ENST00000932303.1",
"protein_id": "ENSP00000602362.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 539,
"cds_start": 293,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932303.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98His",
"transcript": "NM_001414652.1",
"protein_id": "NP_001401581.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 537,
"cds_start": 293,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414652.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89His",
"transcript": "NM_001414653.1",
"protein_id": "NP_001401582.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 531,
"cds_start": 266,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414653.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89His",
"transcript": "NM_001414654.1",
"protein_id": "NP_001401583.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 531,
"cds_start": 266,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414654.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89His",
"transcript": "NM_001414655.1",
"protein_id": "NP_001401584.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 531,
"cds_start": 266,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414655.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84His",
"transcript": "NM_001414656.1",
"protein_id": "NP_001401585.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 526,
"cds_start": 251,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414656.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78His",
"transcript": "NM_001414657.1",
"protein_id": "NP_001401586.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 520,
"cds_start": 233,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414657.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78His",
"transcript": "NM_001414658.1",
"protein_id": "NP_001401587.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 520,
"cds_start": 233,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414658.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "c.233G>A",
"hgvs_p": "p.Arg78His",
"transcript": "NM_001414659.1",
"protein_id": "NP_001401588.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 520,
"cds_start": 233,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414659.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
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"biotype": "pseudogene",
"feature": "ENST00000548230.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 6,
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"transcript": "ENST00000552319.5",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000552319.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 6,
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"exon_count": 17,
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"gene_symbol": "CNOT2",
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"hgvs_c": "n.1194G>A",
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"transcript": "NR_037615.2",
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"biotype": "pseudogene",
"feature": "NR_037615.2"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "CNOT2",
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"hgvs_c": "n.*186G>A",
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"transcript": "ENST00000552319.5",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000552319.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
"intron_rank": 4,
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"gene_symbol": "CNOT2",
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"biotype": "retained_intron",
"feature": "ENST00000548021.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 5,
"intron_rank": 2,
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"gene_symbol": "CNOT2",
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"transcript": "ENST00000548599.5",
"protein_id": "ENSP00000449917.1",
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"feature": "ENST00000548599.5"
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{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "CNOT2",
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"transcript": "ENST00000548863.1",
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"biotype": "retained_intron",
"feature": "ENST00000548863.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"hgvs_c": "n.312-3290G>A",
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"transcript": "ENST00000549443.5",
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"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000549443.5"
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],
"gene_symbol": "CNOT2",
"gene_hgnc_id": 7878,
"dbsnp": "rs149160972",
"frequency_reference_population": 0.0000065930876,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000659309,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3643946349620819,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.34,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1875,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.602,
"phylop100way_prediction": "Pathogenic",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014515.7",
"gene_symbol": "CNOT2",
"hgnc_id": 7878,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98His"
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}