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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-136016647-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=136016647&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 136016647,
"ref": "G",
"alt": "A",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000370695.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Leu361Leu",
"transcript": "NM_001379110.1",
"protein_id": "NP_001366039.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 679,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 4684,
"mane_select": "ENST00000630721.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Leu361Leu",
"transcript": "ENST00000630721.3",
"protein_id": "ENSP00000487486.2",
"transcript_support_level": 4,
"aa_start": 361,
"aa_end": null,
"aa_length": 679,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 4684,
"mane_select": "NM_001379110.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.1239G>A",
"hgvs_p": "p.Leu413Leu",
"transcript": "ENST00000370695.8",
"protein_id": "ENSP00000359729.4",
"transcript_support_level": 1,
"aa_start": 413,
"aa_end": null,
"aa_length": 701,
"cds_start": 1239,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 4711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.1143G>A",
"hgvs_p": "p.Leu381Leu",
"transcript": "ENST00000370698.7",
"protein_id": "ENSP00000359732.3",
"transcript_support_level": 1,
"aa_start": 381,
"aa_end": null,
"aa_length": 669,
"cds_start": 1143,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1219,
"cdna_end": null,
"cdna_length": 4631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Leu361Leu",
"transcript": "ENST00000370701.6",
"protein_id": "ENSP00000359735.1",
"transcript_support_level": 1,
"aa_start": 361,
"aa_end": null,
"aa_length": 649,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1482,
"cdna_end": null,
"cdna_length": 4755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.1239G>A",
"hgvs_p": "p.Leu413Leu",
"transcript": "NM_001438742.1",
"protein_id": "NP_001425671.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 731,
"cds_start": 1239,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 4809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.1239G>A",
"hgvs_p": "p.Leu413Leu",
"transcript": "ENST00000678163.1",
"protein_id": "ENSP00000502845.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 731,
"cds_start": 1239,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 4809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.1239G>A",
"hgvs_p": "p.Leu413Leu",
"transcript": "NM_001042537.2",
"protein_id": "NP_001036002.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 701,
"cds_start": 1239,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 4719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.1143G>A",
"hgvs_p": "p.Leu381Leu",
"transcript": "NM_006359.3",
"protein_id": "NP_006350.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 669,
"cds_start": 1143,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 4623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Leu361Leu",
"transcript": "NM_001177651.2",
"protein_id": "NP_001171122.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 649,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1182,
"cdna_end": null,
"cdna_length": 4594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Leu361Leu",
"transcript": "NM_001400909.1",
"protein_id": "NP_001387838.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 649,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 4873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Leu361Leu",
"transcript": "NM_001400910.1",
"protein_id": "NP_001387839.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 649,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 4739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Leu361Leu",
"transcript": "NM_001400911.1",
"protein_id": "NP_001387840.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 649,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 4621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Leu361Leu",
"transcript": "NM_001400912.1",
"protein_id": "NP_001387841.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 649,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 4589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Leu361Leu",
"transcript": "ENST00000636092.1",
"protein_id": "ENSP00000490406.1",
"transcript_support_level": 5,
"aa_start": 361,
"aa_end": null,
"aa_length": 649,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 4697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Leu361Leu",
"transcript": "ENST00000636347.1",
"protein_id": "ENSP00000490648.1",
"transcript_support_level": 5,
"aa_start": 361,
"aa_end": null,
"aa_length": 649,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1457,
"cdna_end": null,
"cdna_length": 4867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Leu361Leu",
"transcript": "ENST00000637234.1",
"protein_id": "ENSP00000490527.1",
"transcript_support_level": 5,
"aa_start": 361,
"aa_end": null,
"aa_length": 649,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 4691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.1083G>A",
"hgvs_p": "p.Leu361Leu",
"transcript": "ENST00000637581.1",
"protein_id": "ENSP00000490731.1",
"transcript_support_level": 5,
"aa_start": 361,
"aa_end": null,
"aa_length": 649,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1462,
"cdna_end": null,
"cdna_length": 4872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.987G>A",
"hgvs_p": "p.Leu329Leu",
"transcript": "NM_001330652.2",
"protein_id": "NP_001317581.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 617,
"cds_start": 987,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 4493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.987G>A",
"hgvs_p": "p.Leu329Leu",
"transcript": "NM_001400913.1",
"protein_id": "NP_001387842.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 617,
"cds_start": 987,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 4498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.987G>A",
"hgvs_p": "p.Leu329Leu",
"transcript": "ENST00000637195.1",
"protein_id": "ENSP00000490330.1",
"transcript_support_level": 5,
"aa_start": 329,
"aa_end": null,
"aa_length": 617,
"cds_start": 987,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 4858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "n.518G>A",
"hgvs_p": null,
"transcript": "ENST00000636798.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "n.1026G>A",
"hgvs_p": null,
"transcript": "ENST00000643775.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "n.1026G>A",
"hgvs_p": null,
"transcript": "ENST00000675856.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"dbsnp": "rs151178361",
"frequency_reference_population": 0.00019877566,
"hom_count_reference_population": 67,
"allele_count_reference_population": 222,
"gnomad_exomes_af": 0.000198041,
"gnomad_genomes_af": 0.00020537,
"gnomad_exomes_ac": 199,
"gnomad_genomes_ac": 23,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.33000001311302185,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.154,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.1,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP7,BP5_Strong,BS1,BS2,BP4",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP7",
"BP5_Strong",
"BS1",
"BS2",
"BP4"
],
"verdict": "Benign",
"transcript": "ENST00000370695.8",
"gene_symbol": "SLC9A6",
"hgnc_id": 11079,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.1239G>A",
"hgvs_p": "p.Leu413Leu"
}
],
"clinvar_disease": "Christianson syndrome,History of neurodevelopmental disorder,SLC9A6-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "US:1 LB:2 B:3",
"phenotype_combined": "History of neurodevelopmental disorder|not provided|SLC9A6-related disorder|Christianson syndrome",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}