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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: 6-43019324-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43019324&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43019324,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_057161.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC3",
"gene_hgnc_id": 20704,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "NM_057161.4",
"protein_id": "NP_476502.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 382,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326974.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_057161.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC3",
"gene_hgnc_id": 20704,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "ENST00000326974.9",
"protein_id": "ENSP00000313995.4",
"transcript_support_level": 1,
"aa_start": 347,
"aa_end": null,
"aa_length": 382,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_057161.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326974.9"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC3",
"gene_hgnc_id": 20704,
"hgvs_c": "c.638T>C",
"hgvs_p": "p.Ile213Thr",
"transcript": "ENST00000244670.12",
"protein_id": "ENSP00000244670.8",
"transcript_support_level": 1,
"aa_start": 213,
"aa_end": null,
"aa_length": 248,
"cds_start": 638,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000244670.12"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC3",
"gene_hgnc_id": 20704,
"hgvs_c": "c.1064T>C",
"hgvs_p": "p.Ile355Thr",
"transcript": "ENST00000892795.1",
"protein_id": "ENSP00000562854.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 390,
"cds_start": 1064,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892795.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC3",
"gene_hgnc_id": 20704,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "ENST00000892793.1",
"protein_id": "ENSP00000562852.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 382,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892793.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC3",
"gene_hgnc_id": 20704,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "ENST00000892794.1",
"protein_id": "ENSP00000562853.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 382,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892794.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC3",
"gene_hgnc_id": 20704,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "ENST00000892796.1",
"protein_id": "ENSP00000562855.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 382,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892796.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC3",
"gene_hgnc_id": 20704,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "ENST00000892797.1",
"protein_id": "ENSP00000562856.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 382,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892797.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC3",
"gene_hgnc_id": 20704,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "ENST00000892799.1",
"protein_id": "ENSP00000562858.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 382,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892799.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC3",
"gene_hgnc_id": 20704,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "ENST00000892800.1",
"protein_id": "ENSP00000562859.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 382,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892800.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC3",
"gene_hgnc_id": 20704,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "ENST00000892802.1",
"protein_id": "ENSP00000562861.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 382,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892802.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC3",
"gene_hgnc_id": 20704,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "ENST00000892803.1",
"protein_id": "ENSP00000562862.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 382,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892803.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC3",
"gene_hgnc_id": 20704,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "ENST00000892804.1",
"protein_id": "ENSP00000562863.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 382,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892804.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC3",
"gene_hgnc_id": 20704,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "ENST00000892805.1",
"protein_id": "ENSP00000562864.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 382,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892805.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC3",
"gene_hgnc_id": 20704,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "ENST00000931056.1",
"protein_id": "ENSP00000601115.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 382,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931056.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC3",
"gene_hgnc_id": 20704,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "ENST00000931057.1",
"protein_id": "ENSP00000601116.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 382,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931057.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC3",
"gene_hgnc_id": 20704,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "ENST00000931058.1",
"protein_id": "ENSP00000601117.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 382,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931058.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC3",
"gene_hgnc_id": 20704,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "ENST00000931059.1",
"protein_id": "ENSP00000601118.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 382,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931059.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC3",
"gene_hgnc_id": 20704,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "ENST00000931060.1",
"protein_id": "ENSP00000601119.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 382,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931060.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC3",
"gene_hgnc_id": 20704,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "ENST00000931061.1",
"protein_id": "ENSP00000601120.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 382,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931061.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC3",
"gene_hgnc_id": 20704,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "ENST00000931063.1",
"protein_id": "ENSP00000601122.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 382,
"cds_start": 1040,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931063.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHDC3",
"gene_hgnc_id": 20704,
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr",
"transcript": "ENST00000931064.1",
"protein_id": "ENSP00000601123.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 382,
"cds_start": 1040,
"cds_end": null,
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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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"gene_symbol": "KLHDC3",
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"feature": "XM_047418164.1"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
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"gene_symbol": "KLHDC3",
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"hgvs_c": "n.1083T>C",
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"transcript": "NR_040101.2",
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"aa_length": null,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_040101.2"
}
],
"gene_symbol": "KLHDC3",
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"dbsnp": "rs1354378448",
"frequency_reference_population": 6.841237e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84124e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5137059092521667,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.314,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8549,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.081,
"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": 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_057161.4",
"gene_symbol": "KLHDC3",
"hgnc_id": 20704,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1040T>C",
"hgvs_p": "p.Ile347Thr"
}
],
"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
}