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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: 17-32175354-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=32175354&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 32175354,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001033568.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.214A>G",
"hgvs_p": "p.Ile72Val",
"transcript": "NM_001033566.3",
"protein_id": "NP_001028738.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 659,
"cds_start": 214,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000545287.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033566.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.214A>G",
"hgvs_p": "p.Ile72Val",
"transcript": "ENST00000545287.7",
"protein_id": "ENSP00000439737.2",
"transcript_support_level": 5,
"aa_start": 72,
"aa_end": null,
"aa_length": 659,
"cds_start": 214,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001033566.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545287.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.214A>G",
"hgvs_p": "p.Ile72Val",
"transcript": "ENST00000358365.7",
"protein_id": "ENSP00000351132.3",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 691,
"cds_start": 214,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358365.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.214A>G",
"hgvs_p": "p.Ile72Val",
"transcript": "ENST00000333942.10",
"protein_id": "ENSP00000334724.6",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 618,
"cds_start": 214,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333942.10"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.151A>G",
"hgvs_p": "p.Ile51Val",
"transcript": "ENST00000354266.7",
"protein_id": "ENSP00000346215.3",
"transcript_support_level": 1,
"aa_start": 51,
"aa_end": null,
"aa_length": 597,
"cds_start": 151,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354266.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "n.*182A>G",
"hgvs_p": null,
"transcript": "ENST00000578205.5",
"protein_id": "ENSP00000462612.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000578205.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "n.214A>G",
"hgvs_p": null,
"transcript": "ENST00000581031.5",
"protein_id": "ENSP00000464094.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000581031.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "n.*182A>G",
"hgvs_p": null,
"transcript": "ENST00000578205.5",
"protein_id": "ENSP00000462612.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000578205.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.214A>G",
"hgvs_p": "p.Ile72Val",
"transcript": "ENST00000959387.1",
"protein_id": "ENSP00000629446.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 707,
"cds_start": 214,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959387.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.214A>G",
"hgvs_p": "p.Ile72Val",
"transcript": "ENST00000903817.1",
"protein_id": "ENSP00000573876.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 700,
"cds_start": 214,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903817.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.214A>G",
"hgvs_p": "p.Ile72Val",
"transcript": "NM_001033568.3",
"protein_id": "NP_001028740.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 691,
"cds_start": 214,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033568.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.214A>G",
"hgvs_p": "p.Ile72Val",
"transcript": "ENST00000959386.1",
"protein_id": "ENSP00000629445.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 691,
"cds_start": 214,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959386.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.214A>G",
"hgvs_p": "p.Ile72Val",
"transcript": "ENST00000959390.1",
"protein_id": "ENSP00000629449.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 679,
"cds_start": 214,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959390.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.214A>G",
"hgvs_p": "p.Ile72Val",
"transcript": "ENST00000959391.1",
"protein_id": "ENSP00000629450.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 663,
"cds_start": 214,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959391.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.214A>G",
"hgvs_p": "p.Ile72Val",
"transcript": "ENST00000903812.1",
"protein_id": "ENSP00000573871.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 659,
"cds_start": 214,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903812.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.214A>G",
"hgvs_p": "p.Ile72Val",
"transcript": "ENST00000903818.1",
"protein_id": "ENSP00000573877.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 658,
"cds_start": 214,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903818.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "ENST00000903814.1",
"protein_id": "ENSP00000573873.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 657,
"cds_start": 208,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903814.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.214A>G",
"hgvs_p": "p.Ile72Val",
"transcript": "ENST00000959388.1",
"protein_id": "ENSP00000629447.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 657,
"cds_start": 214,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959388.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.214A>G",
"hgvs_p": "p.Ile72Val",
"transcript": "NM_001288754.2",
"protein_id": "NP_001275683.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 650,
"cds_start": 214,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288754.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.214A>G",
"hgvs_p": "p.Ile72Val",
"transcript": "ENST00000394692.6",
"protein_id": "ENSP00000378184.2",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 650,
"cds_start": 214,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394692.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.208A>G",
"hgvs_p": "p.Ile70Val",
"transcript": "ENST00000928287.1",
"protein_id": "ENSP00000598346.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 648,
"cds_start": 208,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928287.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.214A>G",
"hgvs_p": "p.Ile72Val",
"transcript": "ENST00000581148.2",
"protein_id": "ENSP00000467272.2",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 633,
"cds_start": 214,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581148.2"
},
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{
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{
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{
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{
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{
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],
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{
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"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
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"transcript": "NR_110083.2",
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"biotype": "pseudogene",
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{
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"consequences": [
"3_prime_UTR_variant"
],
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"feature": "ENST00000583994.5"
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{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "RHOT1",
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"hgvs_c": "n.54-16847A>G",
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"transcript": "ENST00000580976.1",
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"biotype": "pseudogene",
"feature": "ENST00000580976.1"
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],
"gene_symbol": "RHOT1",
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"dbsnp": null,
"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": 0.42468711733818054,
"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": 0.422,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2236,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.987,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001033568.3",
"gene_symbol": "RHOT1",
"hgnc_id": 21168,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.214A>G",
"hgvs_p": "p.Ile72Val"
}
],
"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
}