← 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: 14-105211165-GTCC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=105211165&ref=GTCC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 105211165,
"ref": "GTCC",
"alt": "G",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_001519.4",
"consequences": [
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1950_1952delGGA",
"hgvs_p": "p.Glu650del",
"transcript": "NM_001519.4",
"protein_id": "NP_001510.2",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 677,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000547530.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001519.4"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1950_1952delGGA",
"hgvs_p": "p.Glu650del",
"transcript": "ENST00000547530.7",
"protein_id": "ENSP00000448387.2",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 677,
"cds_start": 1950,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001519.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547530.7"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1869_1871delGGA",
"hgvs_p": "p.Glu623del",
"transcript": "ENST00000379937.6",
"protein_id": "ENSP00000369269.2",
"transcript_support_level": 1,
"aa_start": 623,
"aa_end": null,
"aa_length": 650,
"cds_start": 1869,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379937.6"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1338_1340delGGA",
"hgvs_p": "p.Glu446del",
"transcript": "ENST00000392557.8",
"protein_id": "ENSP00000376340.4",
"transcript_support_level": 1,
"aa_start": 446,
"aa_end": null,
"aa_length": 473,
"cds_start": 1338,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392557.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.403-1509_403-1507delGGA",
"hgvs_p": null,
"transcript": "ENST00000551787.5",
"protein_id": "ENSP00000446901.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": null,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551787.5"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.2070_2072delGGA",
"hgvs_p": "p.Glu690del",
"transcript": "ENST00000910241.1",
"protein_id": "ENSP00000580300.1",
"transcript_support_level": null,
"aa_start": 690,
"aa_end": null,
"aa_length": 717,
"cds_start": 2070,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910241.1"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.2058_2060delGGA",
"hgvs_p": "p.Glu686del",
"transcript": "ENST00000910245.1",
"protein_id": "ENSP00000580304.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 713,
"cds_start": 2058,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910245.1"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.2013_2015delGGA",
"hgvs_p": "p.Glu671del",
"transcript": "ENST00000910239.1",
"protein_id": "ENSP00000580298.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 698,
"cds_start": 2013,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910239.1"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1947_1949delGGA",
"hgvs_p": "p.Glu649del",
"transcript": "NM_001440449.1",
"protein_id": "NP_001427378.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 676,
"cds_start": 1947,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440449.1"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1947_1949delGGA",
"hgvs_p": "p.Glu649del",
"transcript": "ENST00000910238.1",
"protein_id": "ENSP00000580297.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 676,
"cds_start": 1947,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910238.1"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1944_1946delGGA",
"hgvs_p": "p.Glu648del",
"transcript": "ENST00000910242.1",
"protein_id": "ENSP00000580301.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 675,
"cds_start": 1944,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910242.1"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1869_1871delGGA",
"hgvs_p": "p.Glu623del",
"transcript": "NM_001242788.2",
"protein_id": "NP_001229717.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 650,
"cds_start": 1869,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242788.2"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1866_1868delGGA",
"hgvs_p": "p.Glu622del",
"transcript": "ENST00000910240.1",
"protein_id": "ENSP00000580299.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 649,
"cds_start": 1866,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910240.1"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1800_1802delGGA",
"hgvs_p": "p.Glu600del",
"transcript": "NM_001440450.1",
"protein_id": "NP_001427379.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 627,
"cds_start": 1800,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440450.1"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1797_1799delGGA",
"hgvs_p": "p.Glu599del",
"transcript": "ENST00000957204.1",
"protein_id": "ENSP00000627263.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 626,
"cds_start": 1797,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957204.1"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1671_1673delGGA",
"hgvs_p": "p.Glu557del",
"transcript": "NM_001242786.2",
"protein_id": "NP_001229715.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 584,
"cds_start": 1671,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242786.2"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1671_1673delGGA",
"hgvs_p": "p.Glu557del",
"transcript": "ENST00000440513.7",
"protein_id": "ENSP00000388877.3",
"transcript_support_level": 2,
"aa_start": 557,
"aa_end": null,
"aa_length": 584,
"cds_start": 1671,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440513.7"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1605_1607delGGA",
"hgvs_p": "p.Glu535del",
"transcript": "NM_001242787.2",
"protein_id": "NP_001229716.1",
"transcript_support_level": null,
"aa_start": 535,
"aa_end": null,
"aa_length": 562,
"cds_start": 1605,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242787.2"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1605_1607delGGA",
"hgvs_p": "p.Glu535del",
"transcript": "ENST00000327359.7",
"protein_id": "ENSP00000329029.3",
"transcript_support_level": 2,
"aa_start": 535,
"aa_end": null,
"aa_length": 562,
"cds_start": 1605,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327359.7"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1596_1598delGGA",
"hgvs_p": "p.Glu532del",
"transcript": "ENST00000910244.1",
"protein_id": "ENSP00000580303.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 559,
"cds_start": 1596,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910244.1"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1518_1520delGGA",
"hgvs_p": "p.Glu506del",
"transcript": "ENST00000910247.1",
"protein_id": "ENSP00000580306.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 533,
"cds_start": 1518,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910247.1"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1455_1457delGGA",
"hgvs_p": "p.Glu485del",
"transcript": "NM_001440451.1",
"protein_id": "NP_001427380.1",
"transcript_support_level": null,
"aa_start": 485,
"aa_end": null,
"aa_length": 512,
"cds_start": 1455,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440451.1"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1446_1448delGGA",
"hgvs_p": "p.Glu482del",
"transcript": "ENST00000910243.1",
"protein_id": "ENSP00000580302.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 509,
"cds_start": 1446,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910243.1"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1437_1439delGGA",
"hgvs_p": "p.Glu479del",
"transcript": "NM_001440452.1",
"protein_id": "NP_001427381.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 506,
"cds_start": 1437,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440452.1"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1434_1436delGGA",
"hgvs_p": "p.Glu478del",
"transcript": "NM_001440453.1",
"protein_id": "NP_001427382.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 505,
"cds_start": 1434,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440453.1"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1338_1340delGGA",
"hgvs_p": "p.Glu446del",
"transcript": "NM_145685.3",
"protein_id": "NP_663718.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 473,
"cds_start": 1338,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145685.3"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1284_1286delGGA",
"hgvs_p": "p.Glu428del",
"transcript": "NM_001440454.1",
"protein_id": "NP_001427383.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 455,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440454.1"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1236_1238delGGA",
"hgvs_p": "p.Glu412del",
"transcript": "NM_001242789.2",
"protein_id": "NP_001229718.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 439,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242789.2"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1236_1238delGGA",
"hgvs_p": "p.Glu412del",
"transcript": "ENST00000446501.6",
"protein_id": "ENSP00000389859.2",
"transcript_support_level": 2,
"aa_start": 412,
"aa_end": null,
"aa_length": 439,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446501.6"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1167_1169delGGA",
"hgvs_p": "p.Glu389del",
"transcript": "ENST00000910246.1",
"protein_id": "ENSP00000580305.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 416,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910246.1"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1797_1799delGGA",
"hgvs_p": "p.Glu599del",
"transcript": "XM_047431302.1",
"protein_id": "XP_047287258.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 626,
"cds_start": 1797,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431302.1"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1458_1460delGGA",
"hgvs_p": "p.Glu486del",
"transcript": "XM_047431303.1",
"protein_id": "XP_047287259.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 513,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431303.1"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1452_1454delGGA",
"hgvs_p": "p.Glu484del",
"transcript": "XM_047431305.1",
"protein_id": "XP_047287261.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 511,
"cds_start": 1452,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431305.1"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1338_1340delGGA",
"hgvs_p": "p.Glu446del",
"transcript": "XM_005267563.5",
"protein_id": "XP_005267620.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 473,
"cds_start": 1338,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267563.5"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1287_1289delGGA",
"hgvs_p": "p.Glu429del",
"transcript": "XM_047431308.1",
"protein_id": "XP_047287264.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 456,
"cds_start": 1287,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431308.1"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1236_1238delGGA",
"hgvs_p": "p.Glu412del",
"transcript": "XM_024449553.2",
"protein_id": "XP_024305321.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 439,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449553.2"
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "c.1110_1112delGGA",
"hgvs_p": "p.Glu370del",
"transcript": "XM_047431311.1",
"protein_id": "XP_047287267.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 397,
"cds_start": 1110,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431311.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "n.1442_1444delGGA",
"hgvs_p": null,
"transcript": "ENST00000546997.1",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000546997.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "n.2463_2465delGGA",
"hgvs_p": null,
"transcript": "ENST00000547374.5",
"protein_id": null,
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000547374.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"hgvs_c": "n.1530_1532delGGA",
"hgvs_p": null,
"transcript": "ENST00000635152.1",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000635152.1"
}
],
"gene_symbol": "BRF1",
"gene_hgnc_id": 11551,
"dbsnp": "rs769048173",
"frequency_reference_population": 0.000030815754,
"hom_count_reference_population": 0,
"allele_count_reference_population": 45,
"gnomad_exomes_af": 0.0000308158,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 45,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.718,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP3"
],
"verdict": "Likely_benign",
"transcript": "NM_001519.4",
"gene_symbol": "BRF1",
"hgnc_id": 11551,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1950_1952delGGA",
"hgvs_p": "p.Glu650del"
}
],
"clinvar_disease": "Cerebellar-facial-dental syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Cerebellar-facial-dental syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}