← 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: 14-105211189-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=105211189&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 105211189,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001519.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1929C>T",
"hgvs_p": "p.Asp643Asp",
"transcript": "NM_001519.4",
"protein_id": "NP_001510.2",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 677,
"cds_start": 1929,
"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": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1929C>T",
"hgvs_p": "p.Asp643Asp",
"transcript": "ENST00000547530.7",
"protein_id": "ENSP00000448387.2",
"transcript_support_level": 1,
"aa_start": 643,
"aa_end": null,
"aa_length": 677,
"cds_start": 1929,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1848C>T",
"hgvs_p": "p.Asp616Asp",
"transcript": "ENST00000379937.6",
"protein_id": "ENSP00000369269.2",
"transcript_support_level": 1,
"aa_start": 616,
"aa_end": null,
"aa_length": 650,
"cds_start": 1848,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1317C>T",
"hgvs_p": "p.Asp439Asp",
"transcript": "ENST00000392557.8",
"protein_id": "ENSP00000376340.4",
"transcript_support_level": 1,
"aa_start": 439,
"aa_end": null,
"aa_length": 473,
"cds_start": 1317,
"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.403-1530C>T",
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.2049C>T",
"hgvs_p": "p.Asp683Asp",
"transcript": "ENST00000910241.1",
"protein_id": "ENSP00000580300.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 717,
"cds_start": 2049,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.2037C>T",
"hgvs_p": "p.Asp679Asp",
"transcript": "ENST00000910245.1",
"protein_id": "ENSP00000580304.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 713,
"cds_start": 2037,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1992C>T",
"hgvs_p": "p.Asp664Asp",
"transcript": "ENST00000910239.1",
"protein_id": "ENSP00000580298.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 698,
"cds_start": 1992,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1926C>T",
"hgvs_p": "p.Asp642Asp",
"transcript": "NM_001440449.1",
"protein_id": "NP_001427378.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 676,
"cds_start": 1926,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1926C>T",
"hgvs_p": "p.Asp642Asp",
"transcript": "ENST00000910238.1",
"protein_id": "ENSP00000580297.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 676,
"cds_start": 1926,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1923C>T",
"hgvs_p": "p.Asp641Asp",
"transcript": "ENST00000910242.1",
"protein_id": "ENSP00000580301.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 675,
"cds_start": 1923,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1848C>T",
"hgvs_p": "p.Asp616Asp",
"transcript": "NM_001242788.2",
"protein_id": "NP_001229717.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 650,
"cds_start": 1848,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1845C>T",
"hgvs_p": "p.Asp615Asp",
"transcript": "ENST00000910240.1",
"protein_id": "ENSP00000580299.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 649,
"cds_start": 1845,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1779C>T",
"hgvs_p": "p.Asp593Asp",
"transcript": "NM_001440450.1",
"protein_id": "NP_001427379.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 627,
"cds_start": 1779,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1776C>T",
"hgvs_p": "p.Asp592Asp",
"transcript": "ENST00000957204.1",
"protein_id": "ENSP00000627263.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 626,
"cds_start": 1776,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1650C>T",
"hgvs_p": "p.Asp550Asp",
"transcript": "NM_001242786.2",
"protein_id": "NP_001229715.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 584,
"cds_start": 1650,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1650C>T",
"hgvs_p": "p.Asp550Asp",
"transcript": "ENST00000440513.7",
"protein_id": "ENSP00000388877.3",
"transcript_support_level": 2,
"aa_start": 550,
"aa_end": null,
"aa_length": 584,
"cds_start": 1650,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1584C>T",
"hgvs_p": "p.Asp528Asp",
"transcript": "NM_001242787.2",
"protein_id": "NP_001229716.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 562,
"cds_start": 1584,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1584C>T",
"hgvs_p": "p.Asp528Asp",
"transcript": "ENST00000327359.7",
"protein_id": "ENSP00000329029.3",
"transcript_support_level": 2,
"aa_start": 528,
"aa_end": null,
"aa_length": 562,
"cds_start": 1584,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1575C>T",
"hgvs_p": "p.Asp525Asp",
"transcript": "ENST00000910244.1",
"protein_id": "ENSP00000580303.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 559,
"cds_start": 1575,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1497C>T",
"hgvs_p": "p.Asp499Asp",
"transcript": "ENST00000910247.1",
"protein_id": "ENSP00000580306.1",
"transcript_support_level": null,
"aa_start": 499,
"aa_end": null,
"aa_length": 533,
"cds_start": 1497,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1434C>T",
"hgvs_p": "p.Asp478Asp",
"transcript": "NM_001440451.1",
"protein_id": "NP_001427380.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 512,
"cds_start": 1434,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1425C>T",
"hgvs_p": "p.Asp475Asp",
"transcript": "ENST00000910243.1",
"protein_id": "ENSP00000580302.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 509,
"cds_start": 1425,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1416C>T",
"hgvs_p": "p.Asp472Asp",
"transcript": "NM_001440452.1",
"protein_id": "NP_001427381.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 506,
"cds_start": 1416,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1413C>T",
"hgvs_p": "p.Asp471Asp",
"transcript": "NM_001440453.1",
"protein_id": "NP_001427382.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 505,
"cds_start": 1413,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1317C>T",
"hgvs_p": "p.Asp439Asp",
"transcript": "NM_145685.3",
"protein_id": "NP_663718.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 473,
"cds_start": 1317,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1263C>T",
"hgvs_p": "p.Asp421Asp",
"transcript": "NM_001440454.1",
"protein_id": "NP_001427383.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 455,
"cds_start": 1263,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1215C>T",
"hgvs_p": "p.Asp405Asp",
"transcript": "NM_001242789.2",
"protein_id": "NP_001229718.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 439,
"cds_start": 1215,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1215C>T",
"hgvs_p": "p.Asp405Asp",
"transcript": "ENST00000446501.6",
"protein_id": "ENSP00000389859.2",
"transcript_support_level": 2,
"aa_start": 405,
"aa_end": null,
"aa_length": 439,
"cds_start": 1215,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1146C>T",
"hgvs_p": "p.Asp382Asp",
"transcript": "ENST00000910246.1",
"protein_id": "ENSP00000580305.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 416,
"cds_start": 1146,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1776C>T",
"hgvs_p": "p.Asp592Asp",
"transcript": "XM_047431302.1",
"protein_id": "XP_047287258.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 626,
"cds_start": 1776,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1437C>T",
"hgvs_p": "p.Asp479Asp",
"transcript": "XM_047431303.1",
"protein_id": "XP_047287259.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 513,
"cds_start": 1437,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1431C>T",
"hgvs_p": "p.Asp477Asp",
"transcript": "XM_047431305.1",
"protein_id": "XP_047287261.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 511,
"cds_start": 1431,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1317C>T",
"hgvs_p": "p.Asp439Asp",
"transcript": "XM_005267563.5",
"protein_id": "XP_005267620.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 473,
"cds_start": 1317,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1266C>T",
"hgvs_p": "p.Asp422Asp",
"transcript": "XM_047431308.1",
"protein_id": "XP_047287264.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 456,
"cds_start": 1266,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1215C>T",
"hgvs_p": "p.Asp405Asp",
"transcript": "XM_024449553.2",
"protein_id": "XP_024305321.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 439,
"cds_start": 1215,
"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": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"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.1089C>T",
"hgvs_p": "p.Asp363Asp",
"transcript": "XM_047431311.1",
"protein_id": "XP_047287267.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 397,
"cds_start": 1089,
"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.1421C>T",
"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.2442C>T",
"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.1509C>T",
"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": "rs961802130",
"frequency_reference_population": 0.000017990722,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000191789,
"gnomad_genomes_af": 0.0000065786,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9599999785423279,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.96,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.631,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_001519.4",
"gene_symbol": "BRF1",
"hgnc_id": 11551,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1929C>T",
"hgvs_p": "p.Asp643Asp"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}