← 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: 4-186284147-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=186284147&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 186284147,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_000128.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1191T>C",
"hgvs_p": "p.Gly397Gly",
"transcript": "NM_000128.4",
"protein_id": "NP_000119.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 625,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": "ENST00000403665.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000128.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1191T>C",
"hgvs_p": "p.Gly397Gly",
"transcript": "ENST00000403665.7",
"protein_id": "ENSP00000384957.2",
"transcript_support_level": 1,
"aa_start": 397,
"aa_end": null,
"aa_length": 625,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 3053,
"mane_select": "NM_000128.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403665.7"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1191T>C",
"hgvs_p": "p.Gly397Gly",
"transcript": "ENST00000886358.1",
"protein_id": "ENSP00000556417.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 687,
"cds_start": 1191,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 2317,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886358.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1191T>C",
"hgvs_p": "p.Gly397Gly",
"transcript": "ENST00000886339.1",
"protein_id": "ENSP00000556398.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 625,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 4679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886339.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1191T>C",
"hgvs_p": "p.Gly397Gly",
"transcript": "ENST00000886343.1",
"protein_id": "ENSP00000556402.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 625,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 4282,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886343.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1191T>C",
"hgvs_p": "p.Gly397Gly",
"transcript": "ENST00000886347.1",
"protein_id": "ENSP00000556406.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 625,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1317,
"cdna_end": null,
"cdna_length": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886347.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1191T>C",
"hgvs_p": "p.Gly397Gly",
"transcript": "ENST00000886351.1",
"protein_id": "ENSP00000556410.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 625,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1301,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886351.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1191T>C",
"hgvs_p": "p.Gly397Gly",
"transcript": "ENST00000886352.1",
"protein_id": "ENSP00000556411.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 625,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1396,
"cdna_end": null,
"cdna_length": 2248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886352.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1191T>C",
"hgvs_p": "p.Gly397Gly",
"transcript": "ENST00000886355.1",
"protein_id": "ENSP00000556414.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 625,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886355.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1191T>C",
"hgvs_p": "p.Gly397Gly",
"transcript": "ENST00000886360.1",
"protein_id": "ENSP00000556419.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 625,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 2178,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886360.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1152T>C",
"hgvs_p": "p.Gly384Gly",
"transcript": "ENST00000886359.1",
"protein_id": "ENSP00000556418.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 612,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 2070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886359.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1143T>C",
"hgvs_p": "p.Gly381Gly",
"transcript": "NM_001440590.1",
"protein_id": "NP_001427519.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 609,
"cds_start": 1143,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 4034,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440590.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1143T>C",
"hgvs_p": "p.Gly381Gly",
"transcript": "ENST00000886342.1",
"protein_id": "ENSP00000556401.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 609,
"cds_start": 1143,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 4299,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886342.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1191T>C",
"hgvs_p": "p.Gly397Gly",
"transcript": "NM_001440593.1",
"protein_id": "NP_001427522.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 593,
"cds_start": 1191,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1299,
"cdna_end": null,
"cdna_length": 3986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440593.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1143T>C",
"hgvs_p": "p.Gly381Gly",
"transcript": "NM_001440596.1",
"protein_id": "NP_001427525.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 577,
"cds_start": 1143,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 3938,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440596.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.921T>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "ENST00000886357.1",
"protein_id": "ENSP00000556416.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 575,
"cds_start": 921,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 1998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886357.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.921T>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "NM_001440605.1",
"protein_id": "NP_001427534.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 535,
"cds_start": 921,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440605.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.921T>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "ENST00000886340.1",
"protein_id": "ENSP00000556399.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 535,
"cds_start": 921,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886340.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.921T>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "ENST00000886341.1",
"protein_id": "ENSP00000556400.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 535,
"cds_start": 921,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1316,
"cdna_end": null,
"cdna_length": 4114,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886341.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.921T>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "ENST00000886348.1",
"protein_id": "ENSP00000556407.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 535,
"cds_start": 921,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886348.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.921T>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "ENST00000886350.1",
"protein_id": "ENSP00000556409.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 535,
"cds_start": 921,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1223,
"cdna_end": null,
"cdna_length": 2596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886350.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.921T>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "ENST00000886353.1",
"protein_id": "ENSP00000556412.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 535,
"cds_start": 921,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886353.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.921T>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "ENST00000886356.1",
"protein_id": "ENSP00000556415.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 535,
"cds_start": 921,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 2059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886356.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.918T>C",
"hgvs_p": "p.Gly306Gly",
"transcript": "ENST00000886349.1",
"protein_id": "ENSP00000556408.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 534,
"cds_start": 918,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 2618,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886349.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.873T>C",
"hgvs_p": "p.Gly291Gly",
"transcript": "NM_001440606.1",
"protein_id": "NP_001427535.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 519,
"cds_start": 873,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440606.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.873T>C",
"hgvs_p": "p.Gly291Gly",
"transcript": "ENST00000886344.1",
"protein_id": "ENSP00000556403.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 519,
"cds_start": 873,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 3980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886344.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.921T>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "NM_001440607.1",
"protein_id": "NP_001427536.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 503,
"cds_start": 921,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440607.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.873T>C",
"hgvs_p": "p.Gly291Gly",
"transcript": "NM_001440608.1",
"protein_id": "NP_001427537.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 487,
"cds_start": 873,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 981,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440608.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.648T>C",
"hgvs_p": "p.Gly216Gly",
"transcript": "ENST00000886345.1",
"protein_id": "ENSP00000556404.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 444,
"cds_start": 648,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886345.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.648T>C",
"hgvs_p": "p.Gly216Gly",
"transcript": "ENST00000886354.1",
"protein_id": "ENSP00000556413.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 444,
"cds_start": 648,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 758,
"cdna_end": null,
"cdna_length": 1649,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886354.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1194T>C",
"hgvs_p": "p.Gly398Gly",
"transcript": "XM_005262821.5",
"protein_id": "XP_005262878.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 626,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262821.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1146T>C",
"hgvs_p": "p.Gly382Gly",
"transcript": "XM_006714137.4",
"protein_id": "XP_006714200.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 610,
"cds_start": 1146,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 3008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714137.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.1194T>C",
"hgvs_p": "p.Gly398Gly",
"transcript": "XM_005262822.5",
"protein_id": "XP_005262879.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 594,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1302,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262822.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.924T>C",
"hgvs_p": "p.Gly308Gly",
"transcript": "XM_005262823.5",
"protein_id": "XP_005262880.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 536,
"cds_start": 924,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262823.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.*59T>C",
"hgvs_p": null,
"transcript": "XM_017007885.3",
"protein_id": "XP_016863374.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": null,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1373,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007885.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"hgvs_c": "c.919+2T>C",
"hgvs_p": null,
"transcript": "ENST00000886346.1",
"protein_id": "ENSP00000556405.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 495,
"cds_start": null,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3223,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886346.1"
}
],
"gene_symbol": "F11",
"gene_hgnc_id": 3529,
"dbsnp": "rs5970",
"frequency_reference_population": 0.14664452,
"hom_count_reference_population": 18427,
"allele_count_reference_population": 236686,
"gnomad_exomes_af": 0.145042,
"gnomad_genomes_af": 0.162039,
"gnomad_exomes_ac": 212034,
"gnomad_genomes_ac": 24652,
"gnomad_exomes_homalt": 16275,
"gnomad_genomes_homalt": 2152,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.757,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000128.4",
"gene_symbol": "F11",
"hgnc_id": 3529,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD,SD",
"hgvs_c": "c.1191T>C",
"hgvs_p": "p.Gly397Gly"
}
],
"clinvar_disease": "Hereditary factor XI deficiency disease,Plasma factor XI deficiency,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "Hereditary factor XI deficiency disease|not specified|not provided|Plasma factor XI deficiency",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}