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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: 8-22408352-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=22408352&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 22408352,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001351657.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Glu105*",
"transcript": "NM_001128431.4",
"protein_id": "NP_001121903.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 492,
"cds_start": 313,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381237.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128431.4"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Glu105*",
"transcript": "NM_015359.6",
"protein_id": "NP_056174.2",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 492,
"cds_start": 313,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000359741.10",
"biotype": "protein_coding",
"feature": "NM_015359.6"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Glu105*",
"transcript": "ENST00000359741.10",
"protein_id": "ENSP00000352779.5",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 492,
"cds_start": 313,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_015359.6",
"biotype": "protein_coding",
"feature": "ENST00000359741.10"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Glu105*",
"transcript": "ENST00000381237.6",
"protein_id": "ENSP00000370635.1",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 492,
"cds_start": 313,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001128431.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381237.6"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Glu105*",
"transcript": "ENST00000240095.10",
"protein_id": "ENSP00000240095.6",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 481,
"cds_start": 313,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000240095.10"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Glu105*",
"transcript": "ENST00000851588.1",
"protein_id": "ENSP00000521647.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 522,
"cds_start": 313,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851588.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Glu105*",
"transcript": "ENST00000851596.1",
"protein_id": "ENSP00000521655.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 515,
"cds_start": 313,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851596.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Glu115*",
"transcript": "NM_001351657.2",
"protein_id": "NP_001338586.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 502,
"cds_start": 343,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351657.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Glu115*",
"transcript": "NM_001351658.2",
"protein_id": "NP_001338587.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 502,
"cds_start": 343,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351658.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Glu115*",
"transcript": "NM_001351659.2",
"protein_id": "NP_001338588.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 502,
"cds_start": 343,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351659.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.340G>T",
"hgvs_p": "p.Glu114*",
"transcript": "ENST00000851578.1",
"protein_id": "ENSP00000521637.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 501,
"cds_start": 340,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851578.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Glu105*",
"transcript": "ENST00000851587.1",
"protein_id": "ENSP00000521646.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 501,
"cds_start": 313,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851587.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Glu105*",
"transcript": "ENST00000851590.1",
"protein_id": "ENSP00000521649.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 501,
"cds_start": 313,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851590.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Glu105*",
"transcript": "ENST00000851617.1",
"protein_id": "ENSP00000521676.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 501,
"cds_start": 313,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851617.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Glu105*",
"transcript": "ENST00000941289.1",
"protein_id": "ENSP00000611348.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 501,
"cds_start": 313,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941289.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Glu105*",
"transcript": "NM_001135153.3",
"protein_id": "NP_001128625.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 492,
"cds_start": 313,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135153.3"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Glu105*",
"transcript": "NM_001351655.2",
"protein_id": "NP_001338584.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 492,
"cds_start": 313,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351655.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Glu105*",
"transcript": "NM_001351656.2",
"protein_id": "NP_001338585.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 492,
"cds_start": 313,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351656.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Glu105*",
"transcript": "NM_001351660.2",
"protein_id": "NP_001338589.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 492,
"cds_start": 313,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351660.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Glu105*",
"transcript": "ENST00000289952.9",
"protein_id": "ENSP00000289952.5",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 492,
"cds_start": 313,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000289952.9"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Glu105*",
"transcript": "ENST00000851569.1",
"protein_id": "ENSP00000521628.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 492,
"cds_start": 313,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851569.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.313G>T",
"hgvs_p": "p.Glu105*",
"transcript": "ENST00000851570.1",
"protein_id": "ENSP00000521629.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 492,
"cds_start": 313,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851571.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.270+3372G>T",
"hgvs_p": null,
"transcript": "ENST00000930822.1",
"protein_id": "ENSP00000600881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": null,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930822.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"hgvs_c": "c.270+3372G>T",
"hgvs_p": null,
"transcript": "ENST00000851583.1",
"protein_id": "ENSP00000521642.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 332,
"cds_start": null,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851583.1"
}
],
"gene_symbol": "SLC39A14",
"gene_hgnc_id": 20858,
"dbsnp": "rs879253764",
"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": 0.05000000074505806,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.25,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.453,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.25,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_001351657.2",
"gene_symbol": "SLC39A14",
"hgnc_id": 20858,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Glu115*"
}
],
"clinvar_disease": "Hypermanganesemia with dystonia 2",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Hypermanganesemia with dystonia 2",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}