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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: 10-43557148-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=43557148&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 43557148,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001324353.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "NM_001099282.2",
"protein_id": "NP_001092752.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 458,
"cds_start": 932,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374446.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099282.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "ENST00000374446.7",
"protein_id": "ENSP00000363569.1",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 458,
"cds_start": 932,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001099282.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374446.7"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "ENST00000306006.10",
"protein_id": "ENSP00000307774.6",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 458,
"cds_start": 932,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000306006.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424Gln",
"transcript": "NM_001324353.2",
"protein_id": "NP_001311282.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 571,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324353.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.1058G>A",
"hgvs_p": "p.Arg353Gln",
"transcript": "NM_001324352.2",
"protein_id": "NP_001311281.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 500,
"cds_start": 1058,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324352.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "NM_001099283.2",
"protein_id": "NP_001092753.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 458,
"cds_start": 932,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099283.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "NM_001099284.2",
"protein_id": "NP_001092754.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 458,
"cds_start": 932,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099284.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "NM_001324347.2",
"protein_id": "NP_001311276.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 458,
"cds_start": 932,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324347.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "NM_001324348.2",
"protein_id": "NP_001311277.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 458,
"cds_start": 932,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324348.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "NM_001324349.2",
"protein_id": "NP_001311278.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 458,
"cds_start": 932,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324349.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "NM_001324350.2",
"protein_id": "NP_001311279.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 458,
"cds_start": 932,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324350.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "NM_001324351.2",
"protein_id": "NP_001311280.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 458,
"cds_start": 932,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324351.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "NM_005674.3",
"protein_id": "NP_005665.2",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 458,
"cds_start": 932,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005674.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "ENST00000426961.1",
"protein_id": "ENSP00000398202.1",
"transcript_support_level": 2,
"aa_start": 311,
"aa_end": null,
"aa_length": 458,
"cds_start": 932,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426961.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "ENST00000535642.5",
"protein_id": "ENSP00000443907.1",
"transcript_support_level": 2,
"aa_start": 311,
"aa_end": null,
"aa_length": 458,
"cds_start": 932,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535642.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "ENST00000886909.1",
"protein_id": "ENSP00000556968.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 458,
"cds_start": 932,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886909.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "ENST00000886910.1",
"protein_id": "ENSP00000556969.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 458,
"cds_start": 932,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886910.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "ENST00000886911.1",
"protein_id": "ENSP00000556970.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 458,
"cds_start": 932,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886911.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "ENST00000886912.1",
"protein_id": "ENSP00000556971.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 458,
"cds_start": 932,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886912.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "ENST00000886913.1",
"protein_id": "ENSP00000556972.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 458,
"cds_start": 932,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886913.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "ENST00000886914.1",
"protein_id": "ENSP00000556973.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 458,
"cds_start": 932,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886914.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "ENST00000886915.1",
"protein_id": "ENSP00000556974.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 458,
"cds_start": 932,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"cds_start": 1058,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017016740.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "XM_006718003.4",
"protein_id": "XP_006718066.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 458,
"cds_start": 932,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006718003.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"hgvs_c": "c.932G>A",
"hgvs_p": "p.Arg311Gln",
"transcript": "XM_011540238.3",
"protein_id": "XP_011538540.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 458,
"cds_start": 932,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540238.3"
}
],
"gene_symbol": "ZNF239",
"gene_hgnc_id": 13031,
"dbsnp": "rs539660944",
"frequency_reference_population": 0.000013633823,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000129985,
"gnomad_genomes_af": 0.0000197459,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2587330937385559,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.201,
"revel_prediction": "Benign",
"alphamissense_score": 0.6194,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.404,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001324353.2",
"gene_symbol": "ZNF239",
"hgnc_id": 13031,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Arg424Gln"
}
],
"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
}