← 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: 9-128632260-GGGACCAGCT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128632260&ref=GGGACCAGCT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128632260,
"ref": "GGGACCAGCT",
"alt": "G",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000372739.7",
"consequences": [
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6908_6916delACCAGCTGG",
"hgvs_p": "p.Asp2303_Leu2305del",
"transcript": "NM_001130438.3",
"protein_id": "NP_001123910.1",
"transcript_support_level": null,
"aa_start": 2303,
"aa_end": null,
"aa_length": 2477,
"cds_start": 6908,
"cds_end": null,
"cds_length": 7434,
"cdna_start": 7021,
"cdna_end": null,
"cdna_length": 7875,
"mane_select": "ENST00000372739.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6908_6916delACCAGCTGG",
"hgvs_p": "p.Asp2303_Leu2305del",
"transcript": "ENST00000372739.7",
"protein_id": "ENSP00000361824.4",
"transcript_support_level": 1,
"aa_start": 2303,
"aa_end": null,
"aa_length": 2477,
"cds_start": 6908,
"cds_end": null,
"cds_length": 7434,
"cdna_start": 7021,
"cdna_end": null,
"cdna_length": 7875,
"mane_select": "NM_001130438.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6893_6901delACCAGCTGG",
"hgvs_p": "p.Asp2298_Leu2300del",
"transcript": "ENST00000372731.8",
"protein_id": "ENSP00000361816.4",
"transcript_support_level": 1,
"aa_start": 2298,
"aa_end": null,
"aa_length": 2472,
"cds_start": 6893,
"cds_end": null,
"cds_length": 7419,
"cdna_start": 7035,
"cdna_end": null,
"cdna_length": 7889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6833_6841delACCAGCTGG",
"hgvs_p": "p.Asp2278_Leu2280del",
"transcript": "ENST00000358161.9",
"protein_id": "ENSP00000350882.6",
"transcript_support_level": 1,
"aa_start": 2278,
"aa_end": null,
"aa_length": 2452,
"cds_start": 6833,
"cds_end": null,
"cds_length": 7359,
"cdna_start": 6940,
"cdna_end": null,
"cdna_length": 7794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7007_7015delACCAGCTGG",
"hgvs_p": "p.Asp2336_Leu2338del",
"transcript": "NM_001375318.1",
"protein_id": "NP_001362247.1",
"transcript_support_level": null,
"aa_start": 2336,
"aa_end": null,
"aa_length": 2510,
"cds_start": 7007,
"cds_end": null,
"cds_length": 7533,
"cdna_start": 7750,
"cdna_end": null,
"cdna_length": 8604,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6995_7003delACCAGCTGG",
"hgvs_p": "p.Asp2332_Leu2334del",
"transcript": "NM_001375310.1",
"protein_id": "NP_001362239.1",
"transcript_support_level": null,
"aa_start": 2332,
"aa_end": null,
"aa_length": 2506,
"cds_start": 6995,
"cds_end": null,
"cds_length": 7521,
"cdna_start": 7108,
"cdna_end": null,
"cdna_length": 7962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6995_7003delACCAGCTGG",
"hgvs_p": "p.Asp2332_Leu2334del",
"transcript": "ENST00000704202.1",
"protein_id": "ENSP00000515764.1",
"transcript_support_level": null,
"aa_start": 2332,
"aa_end": null,
"aa_length": 2506,
"cds_start": 6995,
"cds_end": null,
"cds_length": 7521,
"cdna_start": 7105,
"cdna_end": null,
"cdna_length": 7907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6971_6979delACCAGCTGG",
"hgvs_p": "p.Asp2324_Leu2326del",
"transcript": "NM_001363759.2",
"protein_id": "NP_001350688.1",
"transcript_support_level": null,
"aa_start": 2324,
"aa_end": null,
"aa_length": 2498,
"cds_start": 6971,
"cds_end": null,
"cds_length": 7497,
"cdna_start": 7084,
"cdna_end": null,
"cdna_length": 7938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6971_6979delACCAGCTGG",
"hgvs_p": "p.Asp2324_Leu2326del",
"transcript": "ENST00000630866.2",
"protein_id": "ENSP00000487444.1",
"transcript_support_level": 5,
"aa_start": 2324,
"aa_end": null,
"aa_length": 2498,
"cds_start": 6971,
"cds_end": null,
"cds_length": 7497,
"cdna_start": 7081,
"cdna_end": null,
"cdna_length": 7672,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6956_6964delACCAGCTGG",
"hgvs_p": "p.Asp2319_Leu2321del",
"transcript": "NM_001438445.1",
"protein_id": "NP_001425374.1",
"transcript_support_level": null,
"aa_start": 2319,
"aa_end": null,
"aa_length": 2493,
"cds_start": 6956,
"cds_end": null,
"cds_length": 7482,
"cdna_start": 7069,
"cdna_end": null,
"cdna_length": 7923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6944_6952delACCAGCTGG",
"hgvs_p": "p.Asp2315_Leu2317del",
"transcript": "NM_001375312.2",
"protein_id": "NP_001362241.2",
"transcript_support_level": null,
"aa_start": 2315,
"aa_end": null,
"aa_length": 2489,
"cds_start": 6944,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 7687,
"cdna_end": null,
"cdna_length": 8541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6944_6952delACCAGCTGG",
"hgvs_p": "p.Asp2315_Leu2317del",
"transcript": "NM_001438440.1",
"protein_id": "NP_001425369.1",
"transcript_support_level": null,
"aa_start": 2315,
"aa_end": null,
"aa_length": 2489,
"cds_start": 6944,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 7072,
"cdna_end": null,
"cdna_length": 7926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6944_6952delACCAGCTGG",
"hgvs_p": "p.Asp2315_Leu2317del",
"transcript": "ENST00000627441.3",
"protein_id": "ENSP00000486547.2",
"transcript_support_level": 2,
"aa_start": 2315,
"aa_end": null,
"aa_length": 2489,
"cds_start": 6944,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 7069,
"cdna_end": null,
"cdna_length": 7858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6944_6952delACCAGCTGG",
"hgvs_p": "p.Asp2315_Leu2317del",
"transcript": "ENST00000704203.1",
"protein_id": "ENSP00000515765.1",
"transcript_support_level": null,
"aa_start": 2315,
"aa_end": null,
"aa_length": 2489,
"cds_start": 6944,
"cds_end": null,
"cds_length": 7470,
"cdna_start": 7438,
"cdna_end": null,
"cdna_length": 8229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6908_6916delACCAGCTGG",
"hgvs_p": "p.Asp2303_Leu2305del",
"transcript": "NM_001375311.2",
"protein_id": "NP_001362240.1",
"transcript_support_level": null,
"aa_start": 2303,
"aa_end": null,
"aa_length": 2477,
"cds_start": 6908,
"cds_end": null,
"cds_length": 7434,
"cdna_start": 7636,
"cdna_end": null,
"cdna_length": 8490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6908_6916delACCAGCTGG",
"hgvs_p": "p.Asp2303_Leu2305del",
"transcript": "ENST00000706487.1",
"protein_id": "ENSP00000516412.1",
"transcript_support_level": null,
"aa_start": 2303,
"aa_end": null,
"aa_length": 2477,
"cds_start": 6908,
"cds_end": null,
"cds_length": 7434,
"cdna_start": 7084,
"cdna_end": null,
"cdna_length": 7920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6896_6904delACCAGCTGG",
"hgvs_p": "p.Asp2299_Leu2301del",
"transcript": "NM_001438444.1",
"protein_id": "NP_001425373.1",
"transcript_support_level": null,
"aa_start": 2299,
"aa_end": null,
"aa_length": 2473,
"cds_start": 6896,
"cds_end": null,
"cds_length": 7422,
"cdna_start": 7009,
"cdna_end": null,
"cdna_length": 7863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6893_6901delACCAGCTGG",
"hgvs_p": "p.Asp2298_Leu2300del",
"transcript": "NM_003127.4",
"protein_id": "NP_003118.2",
"transcript_support_level": null,
"aa_start": 2298,
"aa_end": null,
"aa_length": 2472,
"cds_start": 6893,
"cds_end": null,
"cds_length": 7419,
"cdna_start": 7006,
"cdna_end": null,
"cdna_length": 7860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6890_6898delACCAGCTGG",
"hgvs_p": "p.Asp2297_Leu2299del",
"transcript": "NM_001375313.1",
"protein_id": "NP_001362242.1",
"transcript_support_level": null,
"aa_start": 2297,
"aa_end": null,
"aa_length": 2471,
"cds_start": 6890,
"cds_end": null,
"cds_length": 7416,
"cdna_start": 7003,
"cdna_end": null,
"cdna_length": 7857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6875_6883delACCAGCTGG",
"hgvs_p": "p.Asp2292_Leu2294del",
"transcript": "NM_001438443.1",
"protein_id": "NP_001425372.1",
"transcript_support_level": null,
"aa_start": 2292,
"aa_end": null,
"aa_length": 2466,
"cds_start": 6875,
"cds_end": null,
"cds_length": 7401,
"cdna_start": 6988,
"cdna_end": null,
"cdna_length": 7842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6848_6856delACCAGCTGG",
"hgvs_p": "p.Asp2283_Leu2285del",
"transcript": "NM_001363765.2",
"protein_id": "NP_001350694.1",
"transcript_support_level": null,
"aa_start": 2283,
"aa_end": null,
"aa_length": 2457,
"cds_start": 6848,
"cds_end": null,
"cds_length": 7374,
"cdna_start": 6961,
"cdna_end": null,
"cdna_length": 7815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6848_6856delACCAGCTGG",
"hgvs_p": "p.Asp2283_Leu2285del",
"transcript": "NM_001375314.2",
"protein_id": "NP_001362243.1",
"transcript_support_level": null,
"aa_start": 2283,
"aa_end": null,
"aa_length": 2457,
"cds_start": 6848,
"cds_end": null,
"cds_length": 7374,
"cdna_start": 7576,
"cdna_end": null,
"cdna_length": 8430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6848_6856delACCAGCTGG",
"hgvs_p": "p.Asp2283_Leu2285del",
"transcript": "ENST00000630804.2",
"protein_id": "ENSP00000486308.1",
"transcript_support_level": 5,
"aa_start": 2283,
"aa_end": null,
"aa_length": 2457,
"cds_start": 6848,
"cds_end": null,
"cds_length": 7374,
"cdna_start": 6961,
"cdna_end": null,
"cdna_length": 7812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6833_6841delACCAGCTGG",
"hgvs_p": "p.Asp2278_Leu2280del",
"transcript": "NM_001195532.2",
"protein_id": "NP_001182461.1",
"transcript_support_level": null,
"aa_start": 2278,
"aa_end": null,
"aa_length": 2452,
"cds_start": 6833,
"cds_end": null,
"cds_length": 7359,
"cdna_start": 6946,
"cdna_end": null,
"cdna_length": 7800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6830_6838delACCAGCTGG",
"hgvs_p": "p.Asp2277_Leu2279del",
"transcript": "NM_001438442.1",
"protein_id": "NP_001425371.1",
"transcript_support_level": null,
"aa_start": 2277,
"aa_end": null,
"aa_length": 2451,
"cds_start": 6830,
"cds_end": null,
"cds_length": 7356,
"cdna_start": 6943,
"cdna_end": null,
"cdna_length": 7797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6815_6823delACCAGCTGG",
"hgvs_p": "p.Asp2272_Leu2274del",
"transcript": "NM_001438441.1",
"protein_id": "NP_001425370.1",
"transcript_support_level": null,
"aa_start": 2272,
"aa_end": null,
"aa_length": 2446,
"cds_start": 6815,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 6928,
"cdna_end": null,
"cdna_length": 7782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6434_6442delACCAGCTGG",
"hgvs_p": "p.Asp2145_Leu2147del",
"transcript": "ENST00000704204.1",
"protein_id": "ENSP00000515766.1",
"transcript_support_level": null,
"aa_start": 2145,
"aa_end": null,
"aa_length": 2319,
"cds_start": 6434,
"cds_end": null,
"cds_length": 6960,
"cdna_start": 6434,
"cdna_end": null,
"cdna_length": 7283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.4511_4519delACCAGCTGG",
"hgvs_p": "p.Asp1504_Leu1506del",
"transcript": "ENST00000704206.1",
"protein_id": "ENSP00000515768.1",
"transcript_support_level": null,
"aa_start": 1504,
"aa_end": null,
"aa_length": 1678,
"cds_start": 4511,
"cds_end": null,
"cds_length": 5037,
"cdna_start": 4513,
"cdna_end": null,
"cdna_length": 5350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 55,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.7007_7015delACCAGCTGG",
"hgvs_p": "p.Asp2336_Leu2338del",
"transcript": "XM_047423783.1",
"protein_id": "XP_047279739.1",
"transcript_support_level": null,
"aa_start": 2336,
"aa_end": null,
"aa_length": 2510,
"cds_start": 7007,
"cds_end": null,
"cds_length": 7533,
"cdna_start": 7135,
"cdna_end": null,
"cdna_length": 7989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6992_7000delACCAGCTGG",
"hgvs_p": "p.Asp2331_Leu2333del",
"transcript": "XM_047423784.1",
"protein_id": "XP_047279740.1",
"transcript_support_level": null,
"aa_start": 2331,
"aa_end": null,
"aa_length": 2505,
"cds_start": 6992,
"cds_end": null,
"cds_length": 7518,
"cdna_start": 7120,
"cdna_end": null,
"cdna_length": 7974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6947_6955delACCAGCTGG",
"hgvs_p": "p.Asp2316_Leu2318del",
"transcript": "XM_047423786.1",
"protein_id": "XP_047279742.1",
"transcript_support_level": null,
"aa_start": 2316,
"aa_end": null,
"aa_length": 2490,
"cds_start": 6947,
"cds_end": null,
"cds_length": 7473,
"cdna_start": 7075,
"cdna_end": null,
"cdna_length": 7929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6932_6940delACCAGCTGG",
"hgvs_p": "p.Asp2311_Leu2313del",
"transcript": "XM_047423788.1",
"protein_id": "XP_047279744.1",
"transcript_support_level": null,
"aa_start": 2311,
"aa_end": null,
"aa_length": 2485,
"cds_start": 6932,
"cds_end": null,
"cds_length": 7458,
"cdna_start": 7060,
"cdna_end": null,
"cdna_length": 7914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6929_6937delACCAGCTGG",
"hgvs_p": "p.Asp2310_Leu2312del",
"transcript": "XM_047423789.1",
"protein_id": "XP_047279745.1",
"transcript_support_level": null,
"aa_start": 2310,
"aa_end": null,
"aa_length": 2484,
"cds_start": 6929,
"cds_end": null,
"cds_length": 7455,
"cdna_start": 7057,
"cdna_end": null,
"cdna_length": 7911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6926_6934delACCAGCTGG",
"hgvs_p": "p.Asp2309_Leu2311del",
"transcript": "XM_047423790.1",
"protein_id": "XP_047279746.1",
"transcript_support_level": null,
"aa_start": 2309,
"aa_end": null,
"aa_length": 2483,
"cds_start": 6926,
"cds_end": null,
"cds_length": 7452,
"cdna_start": 7054,
"cdna_end": null,
"cdna_length": 7908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6911_6919delACCAGCTGG",
"hgvs_p": "p.Asp2304_Leu2306del",
"transcript": "XM_006717251.3",
"protein_id": "XP_006717314.1",
"transcript_support_level": null,
"aa_start": 2304,
"aa_end": null,
"aa_length": 2478,
"cds_start": 6911,
"cds_end": null,
"cds_length": 7437,
"cdna_start": 7024,
"cdna_end": null,
"cdna_length": 7878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6911_6919delACCAGCTGG",
"hgvs_p": "p.Asp2304_Leu2306del",
"transcript": "XM_047423791.1",
"protein_id": "XP_047279747.1",
"transcript_support_level": null,
"aa_start": 2304,
"aa_end": null,
"aa_length": 2478,
"cds_start": 6911,
"cds_end": null,
"cds_length": 7437,
"cdna_start": 7039,
"cdna_end": null,
"cdna_length": 7893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6884_6892delACCAGCTGG",
"hgvs_p": "p.Asp2295_Leu2297del",
"transcript": "XM_047423794.1",
"protein_id": "XP_047279750.1",
"transcript_support_level": null,
"aa_start": 2295,
"aa_end": null,
"aa_length": 2469,
"cds_start": 6884,
"cds_end": null,
"cds_length": 7410,
"cdna_start": 7012,
"cdna_end": null,
"cdna_length": 7866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6869_6877delACCAGCTGG",
"hgvs_p": "p.Asp2290_Leu2292del",
"transcript": "XM_047423796.1",
"protein_id": "XP_047279752.1",
"transcript_support_level": null,
"aa_start": 2290,
"aa_end": null,
"aa_length": 2464,
"cds_start": 6869,
"cds_end": null,
"cds_length": 7395,
"cdna_start": 6997,
"cdna_end": null,
"cdna_length": 7851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6866_6874delACCAGCTGG",
"hgvs_p": "p.Asp2289_Leu2291del",
"transcript": "XM_017015060.2",
"protein_id": "XP_016870549.1",
"transcript_support_level": null,
"aa_start": 2289,
"aa_end": null,
"aa_length": 2463,
"cds_start": 6866,
"cds_end": null,
"cds_length": 7392,
"cdna_start": 6994,
"cdna_end": null,
"cdna_length": 7848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "DQLG",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "c.6851_6859delACCAGCTGG",
"hgvs_p": "p.Asp2284_Leu2286del",
"transcript": "XM_047423797.1",
"protein_id": "XP_047279753.1",
"transcript_support_level": null,
"aa_start": 2284,
"aa_end": null,
"aa_length": 2458,
"cds_start": 6851,
"cds_end": null,
"cds_length": 7377,
"cdna_start": 6979,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "n.862_870delACCAGCTGG",
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "n.665_673delACCAGCTGG",
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "n.632_640delACCAGCTGG",
"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": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "n.*1402_*1410delACCAGCTGG",
"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": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "n.*1402_*1410delACCAGCTGG",
"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": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"hgvs_c": "n.*219_*227delGGACCAGCT",
"hgvs_p": null,
"transcript": "ENST00000636939.1",
"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": 100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPTAN1",
"gene_hgnc_id": 11273,
"dbsnp": "rs587784440",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.591,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 15,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM4,PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 15,
"benign_score": 0,
"pathogenic_score": 15,
"criteria": [
"PM1",
"PM2",
"PM4",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000372739.7",
"gene_symbol": "SPTAN1",
"hgnc_id": 11273,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6908_6916delACCAGCTGG",
"hgvs_p": "p.Asp2303_Leu2305del"
}
],
"clinvar_disease": " 5,Developmental and epileptic encephalopathy,Developmental delay with or without epilepsy,Focal epilepsy,SPTAN1-related disorder,See cases,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:3",
"phenotype_combined": "not provided|Focal epilepsy|See cases|Developmental and epileptic encephalopathy, 5|Developmental and epileptic encephalopathy|Developmental delay with or without epilepsy|SPTAN1-related disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}