← Back to variant description
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: 9-128632704-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128632704&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128632704,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000372739.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7146G>A",
"hgvs_p": "p.Thr2382Thr",
"transcript": "NM_001130438.3",
"protein_id": "NP_001123910.1",
"transcript_support_level": null,
"aa_start": 2382,
"aa_end": null,
"aa_length": 2477,
"cds_start": 7146,
"cds_end": null,
"cds_length": 7434,
"cdna_start": 7259,
"cdna_end": null,
"cdna_length": 7875,
"mane_select": "ENST00000372739.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7146G>A",
"hgvs_p": "p.Thr2382Thr",
"transcript": "ENST00000372739.7",
"protein_id": "ENSP00000361824.4",
"transcript_support_level": 1,
"aa_start": 2382,
"aa_end": null,
"aa_length": 2477,
"cds_start": 7146,
"cds_end": null,
"cds_length": 7434,
"cdna_start": 7259,
"cdna_end": null,
"cdna_length": 7875,
"mane_select": "NM_001130438.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7131G>A",
"hgvs_p": "p.Thr2377Thr",
"transcript": "ENST00000372731.8",
"protein_id": "ENSP00000361816.4",
"transcript_support_level": 1,
"aa_start": 2377,
"aa_end": null,
"aa_length": 2472,
"cds_start": 7131,
"cds_end": null,
"cds_length": 7419,
"cdna_start": 7273,
"cdna_end": null,
"cdna_length": 7889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7071G>A",
"hgvs_p": "p.Thr2357Thr",
"transcript": "ENST00000358161.9",
"protein_id": "ENSP00000350882.6",
"transcript_support_level": 1,
"aa_start": 2357,
"aa_end": null,
"aa_length": 2452,
"cds_start": 7071,
"cds_end": null,
"cds_length": 7359,
"cdna_start": 7178,
"cdna_end": null,
"cdna_length": 7794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7245G>A",
"hgvs_p": "p.Thr2415Thr",
"transcript": "NM_001375318.1",
"protein_id": "NP_001362247.1",
"transcript_support_level": null,
"aa_start": 2415,
"aa_end": null,
"aa_length": 2510,
"cds_start": 7245,
"cds_end": null,
"cds_length": 7533,
"cdna_start": 7988,
"cdna_end": null,
"cdna_length": 8604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7233G>A",
"hgvs_p": "p.Thr2411Thr",
"transcript": "NM_001375310.1",
"protein_id": "NP_001362239.1",
"transcript_support_level": null,
"aa_start": 2411,
"aa_end": null,
"aa_length": 2506,
"cds_start": 7233,
"cds_end": null,
"cds_length": 7521,
"cdna_start": 7346,
"cdna_end": null,
"cdna_length": 7962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7233G>A",
"hgvs_p": "p.Thr2411Thr",
"transcript": "ENST00000704202.1",
"protein_id": "ENSP00000515764.1",
"transcript_support_level": null,
"aa_start": 2411,
"aa_end": null,
"aa_length": 2506,
"cds_start": 7233,
"cds_end": null,
"cds_length": 7521,
"cdna_start": 7343,
"cdna_end": null,
"cdna_length": 7907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7209G>A",
"hgvs_p": "p.Thr2403Thr",
"transcript": "NM_001363759.2",
"protein_id": "NP_001350688.1",
"transcript_support_level": null,
"aa_start": 2403,
"aa_end": null,
"aa_length": 2498,
"cds_start": 7209,
"cds_end": null,
"cds_length": 7497,
"cdna_start": 7322,
"cdna_end": null,
"cdna_length": 7938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7209G>A",
"hgvs_p": "p.Thr2403Thr",
"transcript": "ENST00000630866.2",
"protein_id": "ENSP00000487444.1",
"transcript_support_level": 5,
"aa_start": 2403,
"aa_end": null,
"aa_length": 2498,
"cds_start": 7209,
"cds_end": null,
"cds_length": 7497,
"cdna_start": 7319,
"cdna_end": null,
"cdna_length": 7672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7194G>A",
"hgvs_p": "p.Thr2398Thr",
"transcript": "NM_001438445.1",
"protein_id": "NP_001425374.1",
"transcript_support_level": null,
"aa_start": 2398,
"aa_end": null,
"aa_length": 2493,
"cds_start": 7194,
"cds_end": null,
"cds_length": 7482,
"cdna_start": 7307,
"cdna_end": null,
"cdna_length": 7923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7182G>A",
"hgvs_p": "p.Thr2394Thr",
"transcript": "NM_001375312.2",
"protein_id": "NP_001362241.2",
"transcript_support_level": null,
"aa_start": 2394,
"aa_end": null,
"aa_length": 2489,
"cds_start": 7182,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 7925,
"cdna_end": null,
"cdna_length": 8541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7182G>A",
"hgvs_p": "p.Thr2394Thr",
"transcript": "NM_001438440.1",
"protein_id": "NP_001425369.1",
"transcript_support_level": null,
"aa_start": 2394,
"aa_end": null,
"aa_length": 2489,
"cds_start": 7182,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 7310,
"cdna_end": null,
"cdna_length": 7926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7182G>A",
"hgvs_p": "p.Thr2394Thr",
"transcript": "ENST00000627441.3",
"protein_id": "ENSP00000486547.2",
"transcript_support_level": 2,
"aa_start": 2394,
"aa_end": null,
"aa_length": 2489,
"cds_start": 7182,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 7307,
"cdna_end": null,
"cdna_length": 7858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7182G>A",
"hgvs_p": "p.Thr2394Thr",
"transcript": "ENST00000704203.1",
"protein_id": "ENSP00000515765.1",
"transcript_support_level": null,
"aa_start": 2394,
"aa_end": null,
"aa_length": 2489,
"cds_start": 7182,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 7676,
"cdna_end": null,
"cdna_length": 8229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7146G>A",
"hgvs_p": "p.Thr2382Thr",
"transcript": "NM_001375311.2",
"protein_id": "NP_001362240.1",
"transcript_support_level": null,
"aa_start": 2382,
"aa_end": null,
"aa_length": 2477,
"cds_start": 7146,
"cds_end": null,
"cds_length": 7434,
"cdna_start": 7874,
"cdna_end": null,
"cdna_length": 8490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7146G>A",
"hgvs_p": "p.Thr2382Thr",
"transcript": "ENST00000706487.1",
"protein_id": "ENSP00000516412.1",
"transcript_support_level": null,
"aa_start": 2382,
"aa_end": null,
"aa_length": 2477,
"cds_start": 7146,
"cds_end": null,
"cds_length": 7434,
"cdna_start": 7322,
"cdna_end": null,
"cdna_length": 7920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7134G>A",
"hgvs_p": "p.Thr2378Thr",
"transcript": "NM_001438444.1",
"protein_id": "NP_001425373.1",
"transcript_support_level": null,
"aa_start": 2378,
"aa_end": null,
"aa_length": 2473,
"cds_start": 7134,
"cds_end": null,
"cds_length": 7422,
"cdna_start": 7247,
"cdna_end": null,
"cdna_length": 7863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7131G>A",
"hgvs_p": "p.Thr2377Thr",
"transcript": "NM_003127.4",
"protein_id": "NP_003118.2",
"transcript_support_level": null,
"aa_start": 2377,
"aa_end": null,
"aa_length": 2472,
"cds_start": 7131,
"cds_end": null,
"cds_length": 7419,
"cdna_start": 7244,
"cdna_end": null,
"cdna_length": 7860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7128G>A",
"hgvs_p": "p.Thr2376Thr",
"transcript": "NM_001375313.1",
"protein_id": "NP_001362242.1",
"transcript_support_level": null,
"aa_start": 2376,
"aa_end": null,
"aa_length": 2471,
"cds_start": 7128,
"cds_end": null,
"cds_length": 7416,
"cdna_start": 7241,
"cdna_end": null,
"cdna_length": 7857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7113G>A",
"hgvs_p": "p.Thr2371Thr",
"transcript": "NM_001438443.1",
"protein_id": "NP_001425372.1",
"transcript_support_level": null,
"aa_start": 2371,
"aa_end": null,
"aa_length": 2466,
"cds_start": 7113,
"cds_end": null,
"cds_length": 7401,
"cdna_start": 7226,
"cdna_end": null,
"cdna_length": 7842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7086G>A",
"hgvs_p": "p.Thr2362Thr",
"transcript": "NM_001363765.2",
"protein_id": "NP_001350694.1",
"transcript_support_level": null,
"aa_start": 2362,
"aa_end": null,
"aa_length": 2457,
"cds_start": 7086,
"cds_end": null,
"cds_length": 7374,
"cdna_start": 7199,
"cdna_end": null,
"cdna_length": 7815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7086G>A",
"hgvs_p": "p.Thr2362Thr",
"transcript": "NM_001375314.2",
"protein_id": "NP_001362243.1",
"transcript_support_level": null,
"aa_start": 2362,
"aa_end": null,
"aa_length": 2457,
"cds_start": 7086,
"cds_end": null,
"cds_length": 7374,
"cdna_start": 7814,
"cdna_end": null,
"cdna_length": 8430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7086G>A",
"hgvs_p": "p.Thr2362Thr",
"transcript": "ENST00000630804.2",
"protein_id": "ENSP00000486308.1",
"transcript_support_level": 5,
"aa_start": 2362,
"aa_end": null,
"aa_length": 2457,
"cds_start": 7086,
"cds_end": null,
"cds_length": 7374,
"cdna_start": 7199,
"cdna_end": null,
"cdna_length": 7812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7071G>A",
"hgvs_p": "p.Thr2357Thr",
"transcript": "NM_001195532.2",
"protein_id": "NP_001182461.1",
"transcript_support_level": null,
"aa_start": 2357,
"aa_end": null,
"aa_length": 2452,
"cds_start": 7071,
"cds_end": null,
"cds_length": 7359,
"cdna_start": 7184,
"cdna_end": null,
"cdna_length": 7800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7068G>A",
"hgvs_p": "p.Thr2356Thr",
"transcript": "NM_001438442.1",
"protein_id": "NP_001425371.1",
"transcript_support_level": null,
"aa_start": 2356,
"aa_end": null,
"aa_length": 2451,
"cds_start": 7068,
"cds_end": null,
"cds_length": 7356,
"cdna_start": 7181,
"cdna_end": null,
"cdna_length": 7797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7053G>A",
"hgvs_p": "p.Thr2351Thr",
"transcript": "NM_001438441.1",
"protein_id": "NP_001425370.1",
"transcript_support_level": null,
"aa_start": 2351,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7053,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 7166,
"cdna_end": null,
"cdna_length": 7782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6672G>A",
"hgvs_p": "p.Thr2224Thr",
"transcript": "ENST00000704204.1",
"protein_id": "ENSP00000515766.1",
"transcript_support_level": null,
"aa_start": 2224,
"aa_end": null,
"aa_length": 2319,
"cds_start": 6672,
"cds_end": null,
"cds_length": 6960,
"cdna_start": 6672,
"cdna_end": null,
"cdna_length": 7283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.4749G>A",
"hgvs_p": "p.Thr1583Thr",
"transcript": "ENST00000704206.1",
"protein_id": "ENSP00000515768.1",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1678,
"cds_start": 4749,
"cds_end": null,
"cds_length": 5037,
"cdna_start": 4751,
"cdna_end": null,
"cdna_length": 5350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Thr6Thr",
"transcript": "ENST00000630981.1",
"protein_id": "ENSP00000486605.1",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 67,
"cds_start": 18,
"cds_end": null,
"cds_length": 204,
"cdna_start": 19,
"cdna_end": null,
"cdna_length": 416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7245G>A",
"hgvs_p": "p.Thr2415Thr",
"transcript": "XM_047423783.1",
"protein_id": "XP_047279739.1",
"transcript_support_level": null,
"aa_start": 2415,
"aa_end": null,
"aa_length": 2510,
"cds_start": 7245,
"cds_end": null,
"cds_length": 7533,
"cdna_start": 7373,
"cdna_end": null,
"cdna_length": 7989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7230G>A",
"hgvs_p": "p.Thr2410Thr",
"transcript": "XM_047423784.1",
"protein_id": "XP_047279740.1",
"transcript_support_level": null,
"aa_start": 2410,
"aa_end": null,
"aa_length": 2505,
"cds_start": 7230,
"cds_end": null,
"cds_length": 7518,
"cdna_start": 7358,
"cdna_end": null,
"cdna_length": 7974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7185G>A",
"hgvs_p": "p.Thr2395Thr",
"transcript": "XM_047423786.1",
"protein_id": "XP_047279742.1",
"transcript_support_level": null,
"aa_start": 2395,
"aa_end": null,
"aa_length": 2490,
"cds_start": 7185,
"cds_end": null,
"cds_length": 7473,
"cdna_start": 7313,
"cdna_end": null,
"cdna_length": 7929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7170G>A",
"hgvs_p": "p.Thr2390Thr",
"transcript": "XM_047423788.1",
"protein_id": "XP_047279744.1",
"transcript_support_level": null,
"aa_start": 2390,
"aa_end": null,
"aa_length": 2485,
"cds_start": 7170,
"cds_end": null,
"cds_length": 7458,
"cdna_start": 7298,
"cdna_end": null,
"cdna_length": 7914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7167G>A",
"hgvs_p": "p.Thr2389Thr",
"transcript": "XM_047423789.1",
"protein_id": "XP_047279745.1",
"transcript_support_level": null,
"aa_start": 2389,
"aa_end": null,
"aa_length": 2484,
"cds_start": 7167,
"cds_end": null,
"cds_length": 7455,
"cdna_start": 7295,
"cdna_end": null,
"cdna_length": 7911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7164G>A",
"hgvs_p": "p.Thr2388Thr",
"transcript": "XM_047423790.1",
"protein_id": "XP_047279746.1",
"transcript_support_level": null,
"aa_start": 2388,
"aa_end": null,
"aa_length": 2483,
"cds_start": 7164,
"cds_end": null,
"cds_length": 7452,
"cdna_start": 7292,
"cdna_end": null,
"cdna_length": 7908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7149G>A",
"hgvs_p": "p.Thr2383Thr",
"transcript": "XM_006717251.3",
"protein_id": "XP_006717314.1",
"transcript_support_level": null,
"aa_start": 2383,
"aa_end": null,
"aa_length": 2478,
"cds_start": 7149,
"cds_end": null,
"cds_length": 7437,
"cdna_start": 7262,
"cdna_end": null,
"cdna_length": 7878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7149G>A",
"hgvs_p": "p.Thr2383Thr",
"transcript": "XM_047423791.1",
"protein_id": "XP_047279747.1",
"transcript_support_level": null,
"aa_start": 2383,
"aa_end": null,
"aa_length": 2478,
"cds_start": 7149,
"cds_end": null,
"cds_length": 7437,
"cdna_start": 7277,
"cdna_end": null,
"cdna_length": 7893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7122G>A",
"hgvs_p": "p.Thr2374Thr",
"transcript": "XM_047423794.1",
"protein_id": "XP_047279750.1",
"transcript_support_level": null,
"aa_start": 2374,
"aa_end": null,
"aa_length": 2469,
"cds_start": 7122,
"cds_end": null,
"cds_length": 7410,
"cdna_start": 7250,
"cdna_end": null,
"cdna_length": 7866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7107G>A",
"hgvs_p": "p.Thr2369Thr",
"transcript": "XM_047423796.1",
"protein_id": "XP_047279752.1",
"transcript_support_level": null,
"aa_start": 2369,
"aa_end": null,
"aa_length": 2464,
"cds_start": 7107,
"cds_end": null,
"cds_length": 7395,
"cdna_start": 7235,
"cdna_end": null,
"cdna_length": 7851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7104G>A",
"hgvs_p": "p.Thr2368Thr",
"transcript": "XM_017015060.2",
"protein_id": "XP_016870549.1",
"transcript_support_level": null,
"aa_start": 2368,
"aa_end": null,
"aa_length": 2463,
"cds_start": 7104,
"cds_end": null,
"cds_length": 7392,
"cdna_start": 7232,
"cdna_end": null,
"cdna_length": 7848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7089G>A",
"hgvs_p": "p.Thr2363Thr",
"transcript": "XM_047423797.1",
"protein_id": "XP_047279753.1",
"transcript_support_level": null,
"aa_start": 2363,
"aa_end": null,
"aa_length": 2458,
"cds_start": 7089,
"cds_end": null,
"cds_length": 7377,
"cdna_start": 7217,
"cdna_end": null,
"cdna_length": 7833,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "n.1100G>A",
"hgvs_p": null,
"transcript": "ENST00000625980.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 1713,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "n.80G>A",
"hgvs_p": null,
"transcript": "ENST00000630147.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 785,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "n.903G>A",
"hgvs_p": null,
"transcript": "ENST00000630763.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1503,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "n.870G>A",
"hgvs_p": null,
"transcript": "ENST00000636010.1",
"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": 1472,
"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": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "n.*1640G>A",
"hgvs_p": null,
"transcript": "ENST00000704207.1",
"protein_id": "ENSP00000515769.1",
"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": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "n.*1640G>A",
"hgvs_p": null,
"transcript": "ENST00000704207.1",
"protein_id": "ENSP00000515769.1",
"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": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"dbsnp": "rs75028792",
"frequency_reference_population": 0.00039094736,
"hom_count_reference_population": 5,
"allele_count_reference_population": 631,
"gnomad_exomes_af": 0.000368062,
"gnomad_genomes_af": 0.000610573,
"gnomad_exomes_ac": 538,
"gnomad_genomes_ac": 93,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7699999809265137,
"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": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.876,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000372739.7",
"gene_symbol": "SPTAN1",
"hgnc_id": 11273,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7146G>A",
"hgvs_p": "p.Thr2382Thr"
}
],
"clinvar_disease": " 5,Developmental and epileptic encephalopathy,Inborn genetic diseases,SPTAN1-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:3",
"phenotype_combined": "not specified|Developmental and epileptic encephalopathy|Developmental and epileptic encephalopathy, 5|SPTAN1-related disorder|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}