← 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: 2-199272292-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=199272292&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 199272292,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_015265.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "NM_001172509.2",
"protein_id": "NP_001165980.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2781,
"cdna_end": null,
"cdna_length": 5568,
"mane_select": "ENST00000417098.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172509.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "ENST00000417098.6",
"protein_id": "ENSP00000401112.1",
"transcript_support_level": 2,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2781,
"cdna_end": null,
"cdna_length": 5568,
"mane_select": "NM_001172509.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417098.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "ENST00000260926.9",
"protein_id": "ENSP00000260926.5",
"transcript_support_level": 1,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2534,
"cdna_end": null,
"cdna_length": 5318,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260926.9"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.1767C>G",
"hgvs_p": "p.Ser589Ser",
"transcript": "ENST00000428695.6",
"protein_id": "ENSP00000388581.1",
"transcript_support_level": 1,
"aa_start": 589,
"aa_end": null,
"aa_length": 615,
"cds_start": 1767,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 2313,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428695.6"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "NM_001172517.1",
"protein_id": "NP_001165988.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2534,
"cdna_end": null,
"cdna_length": 5326,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172517.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "NM_015265.4",
"protein_id": "NP_056080.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 5301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015265.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "ENST00000457245.5",
"protein_id": "ENSP00000405420.1",
"transcript_support_level": 2,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2514,
"cdna_end": null,
"cdna_length": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457245.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "ENST00000700193.1",
"protein_id": "ENSP00000514854.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2382,
"cdna_end": null,
"cdna_length": 3175,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700193.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "ENST00000908772.1",
"protein_id": "ENSP00000578831.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2362,
"cdna_end": null,
"cdna_length": 5149,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908772.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "ENST00000908773.1",
"protein_id": "ENSP00000578832.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2637,
"cdna_end": null,
"cdna_length": 5424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908773.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "ENST00000908774.1",
"protein_id": "ENSP00000578833.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2391,
"cdna_end": null,
"cdna_length": 5178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908774.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "ENST00000908775.1",
"protein_id": "ENSP00000578834.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2313,
"cdna_end": null,
"cdna_length": 5100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908775.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "ENST00000908777.1",
"protein_id": "ENSP00000578836.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2638,
"cdna_end": null,
"cdna_length": 5425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908777.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "ENST00000908778.1",
"protein_id": "ENSP00000578837.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 5215,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908778.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "ENST00000908779.1",
"protein_id": "ENSP00000578838.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2467,
"cdna_end": null,
"cdna_length": 5254,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908779.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "ENST00000908780.1",
"protein_id": "ENSP00000578839.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2453,
"cdna_end": null,
"cdna_length": 5240,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908780.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "ENST00000908781.1",
"protein_id": "ENSP00000578840.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2464,
"cdna_end": null,
"cdna_length": 5256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908781.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "ENST00000908782.1",
"protein_id": "ENSP00000578841.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2378,
"cdna_end": null,
"cdna_length": 5165,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908782.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "ENST00000930191.1",
"protein_id": "ENSP00000600250.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2747,
"cdna_end": null,
"cdna_length": 5536,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930191.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "ENST00000930192.1",
"protein_id": "ENSP00000600251.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2806,
"cdna_end": null,
"cdna_length": 5593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930192.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "ENST00000962920.1",
"protein_id": "ENSP00000632979.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2321,
"cdna_end": null,
"cdna_length": 5102,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962920.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "ENST00000962921.1",
"protein_id": "ENSP00000632980.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2494,
"cdna_end": null,
"cdna_length": 5302,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962921.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "ENST00000962922.1",
"protein_id": "ENSP00000632981.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2275,
"cdna_end": null,
"cdna_length": 3547,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962922.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "ENST00000962923.1",
"protein_id": "ENSP00000632982.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2340,
"cdna_end": null,
"cdna_length": 5121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962923.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.1944C>G",
"hgvs_p": "p.Ser648Ser",
"transcript": "ENST00000443023.5",
"protein_id": "ENSP00000388764.1",
"transcript_support_level": 5,
"aa_start": 648,
"aa_end": null,
"aa_length": 674,
"cds_start": 1944,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 3410,
"cdna_end": null,
"cdna_length": 6194,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443023.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.1944C>G",
"hgvs_p": "p.Ser648Ser",
"transcript": "ENST00000908776.1",
"protein_id": "ENSP00000578835.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 674,
"cds_start": 1944,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 2170,
"cdna_end": null,
"cdna_length": 4957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908776.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.1767C>G",
"hgvs_p": "p.Ser589Ser",
"transcript": "ENST00000700191.1",
"protein_id": "ENSP00000514853.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 615,
"cds_start": 1767,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 1970,
"cdna_end": null,
"cdna_length": 4749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700191.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.1767C>G",
"hgvs_p": "p.Ser589Ser",
"transcript": "ENST00000962919.1",
"protein_id": "ENSP00000632978.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 615,
"cds_start": 1767,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 4822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962919.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser",
"transcript": "XM_047443775.1",
"protein_id": "XP_047299731.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 733,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2265,
"cdna_end": null,
"cdna_length": 5057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443775.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.1947C>G",
"hgvs_p": "p.Ser649Ser",
"transcript": "XM_005246396.4",
"protein_id": "XP_005246453.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 675,
"cds_start": 1947,
"cds_end": null,
"cds_length": 2028,
"cdna_start": 2037,
"cdna_end": null,
"cdna_length": 4829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246396.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "c.*370C>G",
"hgvs_p": null,
"transcript": "ENST00000700208.1",
"protein_id": "ENSP00000514860.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": null,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700208.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "n.1210C>G",
"hgvs_p": null,
"transcript": "ENST00000700192.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3781,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000700192.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "n.1029C>G",
"hgvs_p": null,
"transcript": "ENST00000700207.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3770,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000700207.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"hgvs_c": "n.1066C>G",
"hgvs_p": null,
"transcript": "ENST00000700209.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2286,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000700209.1"
}
],
"gene_symbol": "SATB2",
"gene_hgnc_id": 21637,
"dbsnp": "rs141424911",
"frequency_reference_population": 0.0000065690074,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656901,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"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,
"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": -5.164,
"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": -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": "NM_015265.4",
"gene_symbol": "SATB2",
"hgnc_id": 21637,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2121C>G",
"hgvs_p": "p.Ser707Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}