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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: X-129814764-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=129814764&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 129814764,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_016032.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Gly173Gly",
"transcript": "NM_016032.4",
"protein_id": "NP_057116.2",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 364,
"cds_start": 519,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357166.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016032.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Gly173Gly",
"transcript": "ENST00000357166.11",
"protein_id": "ENSP00000349689.6",
"transcript_support_level": 1,
"aa_start": 173,
"aa_end": null,
"aa_length": 364,
"cds_start": 519,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016032.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357166.11"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Gly173Gly",
"transcript": "ENST00000371064.7",
"protein_id": "ENSP00000360103.3",
"transcript_support_level": 1,
"aa_start": 173,
"aa_end": null,
"aa_length": 364,
"cds_start": 519,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371064.7"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.609G>A",
"hgvs_p": "p.Gly203Gly",
"transcript": "ENST00000860167.1",
"protein_id": "ENSP00000530226.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 394,
"cds_start": 609,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860167.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.609G>A",
"hgvs_p": "p.Gly203Gly",
"transcript": "ENST00000939989.1",
"protein_id": "ENSP00000610048.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 394,
"cds_start": 609,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939989.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Gly173Gly",
"transcript": "NM_001008222.3",
"protein_id": "NP_001008223.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 364,
"cds_start": 519,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008222.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Gly173Gly",
"transcript": "ENST00000860168.1",
"protein_id": "ENSP00000530227.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 364,
"cds_start": 519,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860168.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Gly173Gly",
"transcript": "ENST00000860169.1",
"protein_id": "ENSP00000530228.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 364,
"cds_start": 519,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860169.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Gly173Gly",
"transcript": "ENST00000860172.1",
"protein_id": "ENSP00000530231.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 364,
"cds_start": 519,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860172.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Gly173Gly",
"transcript": "ENST00000860173.1",
"protein_id": "ENSP00000530232.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 364,
"cds_start": 519,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860173.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Gly173Gly",
"transcript": "ENST00000939982.1",
"protein_id": "ENSP00000610041.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 364,
"cds_start": 519,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939982.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Gly173Gly",
"transcript": "ENST00000939984.1",
"protein_id": "ENSP00000610043.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 364,
"cds_start": 519,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939984.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Gly173Gly",
"transcript": "ENST00000939985.1",
"protein_id": "ENSP00000610044.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 364,
"cds_start": 519,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939985.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Gly173Gly",
"transcript": "ENST00000939986.1",
"protein_id": "ENSP00000610045.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 364,
"cds_start": 519,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939986.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.516G>A",
"hgvs_p": "p.Gly172Gly",
"transcript": "ENST00000860170.1",
"protein_id": "ENSP00000530229.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 363,
"cds_start": 516,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860170.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.516G>A",
"hgvs_p": "p.Gly172Gly",
"transcript": "ENST00000939988.1",
"protein_id": "ENSP00000610047.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 363,
"cds_start": 516,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939988.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.516G>A",
"hgvs_p": "p.Gly172Gly",
"transcript": "ENST00000966618.1",
"protein_id": "ENSP00000636677.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 363,
"cds_start": 516,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966618.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Gly173Gly",
"transcript": "ENST00000966617.1",
"protein_id": "ENSP00000636676.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 359,
"cds_start": 519,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966617.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Gly173Gly",
"transcript": "ENST00000860166.1",
"protein_id": "ENSP00000530225.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 335,
"cds_start": 519,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860166.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Gly173Gly",
"transcript": "ENST00000860171.1",
"protein_id": "ENSP00000530230.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 335,
"cds_start": 519,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860171.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Gly173Gly",
"transcript": "ENST00000939983.1",
"protein_id": "ENSP00000610042.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 335,
"cds_start": 519,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939983.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Gly173Gly",
"transcript": "ENST00000939987.1",
"protein_id": "ENSP00000610046.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 335,
"cds_start": 519,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939987.1"
},
{
"aa_ref": "G",
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"protein_coding": true,
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],
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"protein_id": "XP_047298107.1",
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"aa_start": 173,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442151.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.365-1039G>A",
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"transcript": "ENST00000433917.5",
"protein_id": "ENSP00000406165.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 192,
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"cds_end": null,
"cds_length": 579,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000433917.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"hgvs_c": "c.*7G>A",
"hgvs_p": null,
"transcript": "ENST00000406492.2",
"protein_id": "ENSP00000383991.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": null,
"cds_end": null,
"cds_length": 512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406492.2"
}
],
"gene_symbol": "ZDHHC9",
"gene_hgnc_id": 18475,
"dbsnp": "rs766780497",
"frequency_reference_population": 0.000018214389,
"hom_count_reference_population": 8,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000182144,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5600000023841858,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.172,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_016032.4",
"gene_symbol": "ZDHHC9",
"hgnc_id": 18475,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.519G>A",
"hgvs_p": "p.Gly173Gly"
}
],
"clinvar_disease": "Syndromic X-linked intellectual disability Raymond type",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Syndromic X-linked intellectual disability Raymond type",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}