← 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: X-124090634-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=124090634&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 124090634,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000371145.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001042750.2",
"protein_id": "NP_001036215.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3650,
"cdna_end": null,
"cdna_length": 6179,
"mane_select": "ENST00000371145.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "ENST00000371145.8",
"protein_id": "ENSP00000360187.4",
"transcript_support_level": 1,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3650,
"cdna_end": null,
"cdna_length": 6179,
"mane_select": "NM_001042750.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "ENST00000218089.13",
"protein_id": "ENSP00000218089.9",
"transcript_support_level": 1,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3847,
"cdna_end": null,
"cdna_length": 5218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "ENST00000371144.7",
"protein_id": "ENSP00000360186.3",
"transcript_support_level": 1,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3617,
"cdna_end": null,
"cdna_length": 4281,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "ENST00000371157.7",
"protein_id": "ENSP00000360199.3",
"transcript_support_level": 1,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3573,
"cdna_end": null,
"cdna_length": 5991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "ENST00000371160.5",
"protein_id": "ENSP00000360202.1",
"transcript_support_level": 1,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3627,
"cdna_end": null,
"cdna_length": 6045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001042749.2",
"protein_id": "NP_001036214.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3806,
"cdna_end": null,
"cdna_length": 6335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001375366.1",
"protein_id": "NP_001362295.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3628,
"cdna_end": null,
"cdna_length": 6157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001375367.1",
"protein_id": "NP_001362296.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3578,
"cdna_end": null,
"cdna_length": 6107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001375368.1",
"protein_id": "NP_001362297.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3513,
"cdna_end": null,
"cdna_length": 6042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001375369.1",
"protein_id": "NP_001362298.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3558,
"cdna_end": null,
"cdna_length": 6087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001375370.1",
"protein_id": "NP_001362299.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3623,
"cdna_end": null,
"cdna_length": 6152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001375371.1",
"protein_id": "NP_001362300.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3585,
"cdna_end": null,
"cdna_length": 6114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001375372.1",
"protein_id": "NP_001362301.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3483,
"cdna_end": null,
"cdna_length": 6012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001441081.1",
"protein_id": "NP_001428010.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 4004,
"cdna_end": null,
"cdna_length": 6533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001441082.1",
"protein_id": "NP_001428011.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3689,
"cdna_end": null,
"cdna_length": 6218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001441085.1",
"protein_id": "NP_001428014.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3688,
"cdna_end": null,
"cdna_length": 6217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "ENST00000687852.1",
"protein_id": "ENSP00000509048.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3773,
"cdna_end": null,
"cdna_length": 6143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001042751.2",
"protein_id": "NP_001036216.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3650,
"cdna_end": null,
"cdna_length": 6068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001282418.2",
"protein_id": "NP_001269347.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3629,
"cdna_end": null,
"cdna_length": 6047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001375373.1",
"protein_id": "NP_001362302.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3628,
"cdna_end": null,
"cdna_length": 6046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001375374.1",
"protein_id": "NP_001362303.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3513,
"cdna_end": null,
"cdna_length": 5931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001375375.1",
"protein_id": "NP_001362304.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3558,
"cdna_end": null,
"cdna_length": 5976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001375376.1",
"protein_id": "NP_001362305.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3623,
"cdna_end": null,
"cdna_length": 6041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001375377.1",
"protein_id": "NP_001362306.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3483,
"cdna_end": null,
"cdna_length": 5901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001441077.1",
"protein_id": "NP_001428006.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3909,
"cdna_end": null,
"cdna_length": 6327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001441078.1",
"protein_id": "NP_001428007.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3578,
"cdna_end": null,
"cdna_length": 5996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001441079.1",
"protein_id": "NP_001428008.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 4004,
"cdna_end": null,
"cdna_length": 6422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001441080.1",
"protein_id": "NP_001428009.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3754,
"cdna_end": null,
"cdna_length": 6172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001441083.1",
"protein_id": "NP_001428012.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3866,
"cdna_end": null,
"cdna_length": 6284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001441084.1",
"protein_id": "NP_001428013.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3688,
"cdna_end": null,
"cdna_length": 6106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_001441086.1",
"protein_id": "NP_001428015.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3764,
"cdna_end": null,
"cdna_length": 6182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "NM_006603.5",
"protein_id": "NP_006594.3",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3585,
"cdna_end": null,
"cdna_length": 6003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "ENST00000455404.6",
"protein_id": "ENSP00000397265.2",
"transcript_support_level": 5,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3782,
"cdna_end": null,
"cdna_length": 4344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "ENST00000692982.1",
"protein_id": "ENSP00000509476.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1228,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3687,
"cdna_start": 3575,
"cdna_end": null,
"cdna_length": 5624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "XM_006724727.2",
"protein_id": "XP_006724790.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3754,
"cdna_end": null,
"cdna_length": 6283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "XM_047441776.1",
"protein_id": "XP_047297732.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3939,
"cdna_end": null,
"cdna_length": 6468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "XM_047441779.1",
"protein_id": "XP_047297735.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1268,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3807,
"cdna_start": 3780,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "XM_047441780.1",
"protein_id": "XP_047297736.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3689,
"cdna_end": null,
"cdna_length": 6107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "XM_047441781.1",
"protein_id": "XP_047297737.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3939,
"cdna_end": null,
"cdna_length": 6357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "XM_047441783.1",
"protein_id": "XP_047297739.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3806,
"cdna_end": null,
"cdna_length": 6224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser",
"transcript": "XM_047441786.1",
"protein_id": "XP_047297742.1",
"transcript_support_level": null,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1231,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 3780,
"cdna_end": null,
"cdna_length": 6198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "c.3130C>T",
"hgvs_p": "p.Pro1044Ser",
"transcript": "XM_047441787.1",
"protein_id": "XP_047297743.1",
"transcript_support_level": null,
"aa_start": 1044,
"aa_end": null,
"aa_length": 1199,
"cds_start": 3130,
"cds_end": null,
"cds_length": 3600,
"cdna_start": 3416,
"cdna_end": null,
"cdna_length": 5945,
"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": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "n.*2135C>T",
"hgvs_p": null,
"transcript": "ENST00000686127.1",
"protein_id": "ENSP00000510375.1",
"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": 5745,
"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": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "n.3573C>T",
"hgvs_p": null,
"transcript": "ENST00000691035.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6031,
"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": 25,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "n.4626C>T",
"hgvs_p": null,
"transcript": "ENST00000693144.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6885,
"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": 29,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "n.*2135C>T",
"hgvs_p": null,
"transcript": "ENST00000686127.1",
"protein_id": "ENSP00000510375.1",
"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": 5745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "n.453+86887C>T",
"hgvs_p": null,
"transcript": "ENST00000469481.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 989,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"dbsnp": "rs1556571924",
"frequency_reference_population": 9.1124474e-7,
"hom_count_reference_population": 1,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 9.11245e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.48445844650268555,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.259,
"revel_prediction": "Benign",
"alphamissense_score": 0.2086,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.376,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000371145.8",
"gene_symbol": "STAG2",
"hgnc_id": 11355,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Pro1113Ser"
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}