← 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: 11-66713635-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66713635&ref=G&alt=T&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "11",
"pos": 66713635,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000533211.6",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "NM_006946.4",
"protein_id": "NP_008877.2",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 2390,
"cds_start": 768,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 11136,
"mane_select": "ENST00000533211.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "ENST00000533211.6",
"protein_id": "ENSP00000432568.1",
"transcript_support_level": 5,
"aa_start": 256,
"aa_end": null,
"aa_length": 2390,
"cds_start": 768,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 11136,
"mane_select": "NM_006946.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "ENST00000309996.7",
"protein_id": "ENSP00000311489.2",
"transcript_support_level": 1,
"aa_start": 256,
"aa_end": null,
"aa_length": 2390,
"cds_start": 768,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 7681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.789C>A",
"hgvs_p": "p.Pro263Pro",
"transcript": "NM_001411025.1",
"protein_id": "NP_001397954.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 2397,
"cds_start": 789,
"cds_end": null,
"cds_length": 7194,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 10811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.789C>A",
"hgvs_p": "p.Pro263Pro",
"transcript": "ENST00000617502.5",
"protein_id": "ENSP00000482000.2",
"transcript_support_level": 5,
"aa_start": 263,
"aa_end": null,
"aa_length": 2397,
"cds_start": 789,
"cds_end": null,
"cds_length": 7194,
"cdna_start": 1041,
"cdna_end": null,
"cdna_length": 7446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "NM_001437541.1",
"protein_id": "NP_001424470.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 2390,
"cds_start": 768,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 11045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "ENST00000611817.5",
"protein_id": "ENSP00000480692.2",
"transcript_support_level": 2,
"aa_start": 256,
"aa_end": null,
"aa_length": 2390,
"cds_start": 768,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 1371,
"cdna_end": null,
"cdna_length": 7776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "ENST00000713738.1",
"protein_id": "ENSP00000519042.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 2390,
"cds_start": 768,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 11051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "ENST00000529997.5",
"protein_id": "ENSP00000433593.1",
"transcript_support_level": 5,
"aa_start": 256,
"aa_end": null,
"aa_length": 2365,
"cds_start": 768,
"cds_end": null,
"cds_length": 7098,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 8085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "ENST00000713741.1",
"protein_id": "ENSP00000519045.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 2361,
"cds_start": 768,
"cds_end": null,
"cds_length": 7086,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 8153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "ENST00000713739.1",
"protein_id": "ENSP00000519043.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 2265,
"cds_start": 768,
"cds_end": null,
"cds_length": 6798,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 7417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "ENST00000713742.1",
"protein_id": "ENSP00000519046.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 2241,
"cds_start": 768,
"cds_end": null,
"cds_length": 6726,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 7395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "ENST00000713740.1",
"protein_id": "ENSP00000519044.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 1848,
"cds_start": 768,
"cds_end": null,
"cds_length": 5547,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 6164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "XM_006718671.5",
"protein_id": "XP_006718734.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 2390,
"cds_start": 768,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 10775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "XM_017018174.2",
"protein_id": "XP_016873663.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 2390,
"cds_start": 768,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 11228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "XM_017018175.3",
"protein_id": "XP_016873664.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 2390,
"cds_start": 768,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 1010,
"cdna_end": null,
"cdna_length": 10789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "XM_017018176.2",
"protein_id": "XP_016873665.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 2390,
"cds_start": 768,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 1039,
"cdna_end": null,
"cdna_length": 10818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "XM_017018177.3",
"protein_id": "XP_016873666.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 2390,
"cds_start": 768,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 919,
"cdna_end": null,
"cdna_length": 10698,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "XM_017018178.2",
"protein_id": "XP_016873667.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 2390,
"cds_start": 768,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 905,
"cdna_end": null,
"cdna_length": 10684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "XM_047427488.1",
"protein_id": "XP_047283444.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 2390,
"cds_start": 768,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 10910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "XM_047427489.1",
"protein_id": "XP_047283445.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 2390,
"cds_start": 768,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 10867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "XM_047427490.1",
"protein_id": "XP_047283446.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 2390,
"cds_start": 768,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 2780,
"cdna_end": null,
"cdna_length": 12559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "XM_047427491.1",
"protein_id": "XP_047283447.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 2390,
"cds_start": 768,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 10881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "XM_047427492.1",
"protein_id": "XP_047283448.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 2390,
"cds_start": 768,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 6294,
"cdna_end": null,
"cdna_length": 16073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "XM_047427493.1",
"protein_id": "XP_047283449.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 2390,
"cds_start": 768,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 6441,
"cdna_end": null,
"cdna_length": 16220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "XM_047427494.1",
"protein_id": "XP_047283450.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 2390,
"cds_start": 768,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 6323,
"cdna_end": null,
"cdna_length": 16102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro",
"transcript": "XM_047427495.1",
"protein_id": "XP_047283451.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 2390,
"cds_start": 768,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 1114,
"cdna_end": null,
"cdna_length": 10893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.789C>A",
"hgvs_p": "p.Pro263Pro",
"transcript": "XM_047427496.1",
"protein_id": "XP_047283452.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 2372,
"cds_start": 789,
"cds_end": null,
"cds_length": 7119,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 8357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.789C>A",
"hgvs_p": "p.Pro263Pro",
"transcript": "XM_011545216.4",
"protein_id": "XP_011543518.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 1452,
"cds_start": 789,
"cds_end": null,
"cds_length": 4359,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 5865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "c.789C>A",
"hgvs_p": "p.Pro263Pro",
"transcript": "XM_011545217.3",
"protein_id": "XP_011543519.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 1432,
"cds_start": 789,
"cds_end": null,
"cds_length": 4299,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 4851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "n.768C>A",
"hgvs_p": null,
"transcript": "ENST00000647510.2",
"protein_id": "ENSP00000508362.1",
"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": 8732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"hgvs_c": "n.768C>A",
"hgvs_p": null,
"transcript": "ENST00000713737.1",
"protein_id": "ENSP00000519041.1",
"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": 10561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SPTBN2",
"gene_hgnc_id": 11276,
"dbsnp": "rs201821131",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.448,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000533211.6",
"gene_symbol": "SPTBN2",
"hgnc_id": 11276,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.768C>A",
"hgvs_p": "p.Pro256Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}