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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-135994872-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=135994872&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 135994872,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000370695.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ser86Gly",
"transcript": "NM_001379110.1",
"protein_id": "NP_001366039.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 679,
"cds_start": 256,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 4684,
"mane_select": "ENST00000630721.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ser86Gly",
"transcript": "ENST00000630721.3",
"protein_id": "ENSP00000487486.2",
"transcript_support_level": 4,
"aa_start": 86,
"aa_end": null,
"aa_length": 679,
"cds_start": 256,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 4684,
"mane_select": "NM_001379110.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.412A>G",
"hgvs_p": "p.Ser138Gly",
"transcript": "ENST00000370695.8",
"protein_id": "ENSP00000359729.4",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 701,
"cds_start": 412,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 4711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.412A>G",
"hgvs_p": "p.Ser138Gly",
"transcript": "ENST00000370698.7",
"protein_id": "ENSP00000359732.3",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 669,
"cds_start": 412,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 4631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ser86Gly",
"transcript": "ENST00000370701.6",
"protein_id": "ENSP00000359735.1",
"transcript_support_level": 1,
"aa_start": 86,
"aa_end": null,
"aa_length": 649,
"cds_start": 256,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 655,
"cdna_end": null,
"cdna_length": 4755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.412A>G",
"hgvs_p": "p.Ser138Gly",
"transcript": "NM_001438742.1",
"protein_id": "NP_001425671.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 731,
"cds_start": 412,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 4809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.412A>G",
"hgvs_p": "p.Ser138Gly",
"transcript": "ENST00000678163.1",
"protein_id": "ENSP00000502845.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 731,
"cds_start": 412,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 4809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.412A>G",
"hgvs_p": "p.Ser138Gly",
"transcript": "NM_001042537.2",
"protein_id": "NP_001036002.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 701,
"cds_start": 412,
"cds_end": null,
"cds_length": 2106,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 4719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.412A>G",
"hgvs_p": "p.Ser138Gly",
"transcript": "NM_006359.3",
"protein_id": "NP_006350.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 669,
"cds_start": 412,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 4623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ser86Gly",
"transcript": "NM_001177651.2",
"protein_id": "NP_001171122.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 649,
"cds_start": 256,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 4594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ser86Gly",
"transcript": "NM_001400909.1",
"protein_id": "NP_001387838.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 649,
"cds_start": 256,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 4873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ser86Gly",
"transcript": "NM_001400910.1",
"protein_id": "NP_001387839.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 649,
"cds_start": 256,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 4739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ser86Gly",
"transcript": "NM_001400911.1",
"protein_id": "NP_001387840.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 649,
"cds_start": 256,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 4621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ser86Gly",
"transcript": "NM_001400912.1",
"protein_id": "NP_001387841.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 649,
"cds_start": 256,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 4589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ser86Gly",
"transcript": "ENST00000636092.1",
"protein_id": "ENSP00000490406.1",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 649,
"cds_start": 256,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 4697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ser86Gly",
"transcript": "ENST00000636347.1",
"protein_id": "ENSP00000490648.1",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 649,
"cds_start": 256,
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"cds_length": 1950,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 4867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ser86Gly",
"transcript": "ENST00000637234.1",
"protein_id": "ENSP00000490527.1",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 649,
"cds_start": 256,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 4691,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ser86Gly",
"transcript": "ENST00000637581.1",
"protein_id": "ENSP00000490731.1",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 649,
"cds_start": 256,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 4872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ser86Gly",
"transcript": "NM_001330652.2",
"protein_id": "NP_001317581.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 617,
"cds_start": 256,
"cds_end": null,
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"cdna_start": 350,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ser86Gly",
"transcript": "NM_001400913.1",
"protein_id": "NP_001387842.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 617,
"cds_start": 256,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 4498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ser86Gly",
"transcript": "ENST00000637195.1",
"protein_id": "ENSP00000490330.1",
"transcript_support_level": 5,
"aa_start": 86,
"aa_end": null,
"aa_length": 617,
"cds_start": 256,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 4858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.199A>G",
"hgvs_p": "p.Ser67Gly",
"transcript": "ENST00000674809.1",
"protein_id": "ENSP00000502455.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 288,
"cds_start": 199,
"cds_end": null,
"cds_length": 867,
"cdna_start": 199,
"cdna_end": null,
"cdna_length": 1039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Ser86Gly",
"transcript": "ENST00000627534.2",
"protein_id": "ENSP00000486743.1",
"transcript_support_level": 4,
"aa_start": 86,
"aa_end": null,
"aa_length": 183,
"cds_start": 256,
"cds_end": null,
"cds_length": 552,
"cdna_start": 352,
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"cdna_length": 648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "n.199A>G",
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"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "n.197A>G",
"hgvs_p": null,
"transcript": "ENST00000675550.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 1888,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "n.199A>G",
"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
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"hgvs_c": "n.199A>G",
"hgvs_p": null,
"transcript": "ENST00000676043.1",
"protein_id": "ENSP00000501920.1",
"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": 897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC9A6",
"gene_hgnc_id": 11079,
"dbsnp": "rs587784401",
"frequency_reference_population": 0.0000041423546,
"hom_count_reference_population": 2,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000365271,
"gnomad_genomes_af": 0.00000893128,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21406033635139465,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.24,
"revel_prediction": "Benign",
"alphamissense_score": 0.0998,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.895,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1_Supporting",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000370695.8",
"gene_symbol": "SLC9A6",
"hgnc_id": 11079,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.412A>G",
"hgvs_p": "p.Ser138Gly"
}
],
"clinvar_disease": "Christianson syndrome,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Christianson syndrome|not provided|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}