← 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: 7-140781625-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=140781625&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 140781625,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000646891.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1503A>G",
"hgvs_p": "p.Gln501Gln",
"transcript": "NM_001374258.1",
"protein_id": "NP_001361187.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 807,
"cds_start": 1503,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 9807,
"mane_select": null,
"mane_plus": "ENST00000644969.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1503A>G",
"hgvs_p": "p.Gln501Gln",
"transcript": "ENST00000644969.2",
"protein_id": "ENSP00000496776.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 807,
"cds_start": 1503,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 9807,
"mane_select": null,
"mane_plus": "NM_001374258.1",
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1383A>G",
"hgvs_p": "p.Gln461Gln",
"transcript": "NM_004333.6",
"protein_id": "NP_004324.2",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 766,
"cds_start": 1383,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1609,
"cdna_end": null,
"cdna_length": 6459,
"mane_select": "ENST00000646891.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1383A>G",
"hgvs_p": "p.Gln461Gln",
"transcript": "ENST00000646891.2",
"protein_id": "ENSP00000493543.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 766,
"cds_start": 1383,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1609,
"cdna_end": null,
"cdna_length": 6459,
"mane_select": "NM_004333.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1503A>G",
"hgvs_p": "p.Gln501Gln",
"transcript": "ENST00000288602.11",
"protein_id": "ENSP00000288602.7",
"transcript_support_level": 1,
"aa_start": 501,
"aa_end": null,
"aa_length": 806,
"cds_start": 1503,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1503A>G",
"hgvs_p": "p.Gln501Gln",
"transcript": "NM_001374244.1",
"protein_id": "NP_001361173.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 806,
"cds_start": 1503,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 6579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1392A>G",
"hgvs_p": "p.Gln464Gln",
"transcript": "NM_001378467.1",
"protein_id": "NP_001365396.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 770,
"cds_start": 1392,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1618,
"cdna_end": null,
"cdna_length": 9696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1383A>G",
"hgvs_p": "p.Gln461Gln",
"transcript": "NM_001354609.2",
"protein_id": "NP_001341538.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 767,
"cds_start": 1383,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 1609,
"cdna_end": null,
"cdna_length": 9687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1383A>G",
"hgvs_p": "p.Gln461Gln",
"transcript": "ENST00000496384.7",
"protein_id": "ENSP00000419060.2",
"transcript_support_level": 5,
"aa_start": 461,
"aa_end": null,
"aa_length": 767,
"cds_start": 1383,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 9578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1383A>G",
"hgvs_p": "p.Gln461Gln",
"transcript": "NM_001378468.1",
"protein_id": "NP_001365397.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 758,
"cds_start": 1383,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1609,
"cdna_end": null,
"cdna_length": 9533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1317A>G",
"hgvs_p": "p.Gln439Gln",
"transcript": "NM_001378469.1",
"protein_id": "NP_001365398.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 744,
"cds_start": 1317,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1543,
"cdna_end": null,
"cdna_length": 6393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1281A>G",
"hgvs_p": "p.Gln427Gln",
"transcript": "NM_001378470.1",
"protein_id": "NP_001365399.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 733,
"cds_start": 1281,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1507,
"cdna_end": null,
"cdna_length": 9585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1272A>G",
"hgvs_p": "p.Gln424Gln",
"transcript": "NM_001378471.1",
"protein_id": "NP_001365400.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 730,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 9576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1227A>G",
"hgvs_p": "p.Gln409Gln",
"transcript": "NM_001378472.1",
"protein_id": "NP_001365401.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 715,
"cds_start": 1227,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 9406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1227A>G",
"hgvs_p": "p.Gln409Gln",
"transcript": "NM_001378473.1",
"protein_id": "NP_001365402.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 714,
"cds_start": 1227,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 6178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1383A>G",
"hgvs_p": "p.Gln461Gln",
"transcript": "NM_001378474.1",
"protein_id": "NP_001365403.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 711,
"cds_start": 1383,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1609,
"cdna_end": null,
"cdna_length": 5062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1119A>G",
"hgvs_p": "p.Gln373Gln",
"transcript": "NM_001378475.1",
"protein_id": "NP_001365404.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 679,
"cds_start": 1119,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 9423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1503A>G",
"hgvs_p": "p.Gln501Gln",
"transcript": "XM_017012559.2",
"protein_id": "XP_016868048.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 798,
"cds_start": 1503,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 9653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1347A>G",
"hgvs_p": "p.Gln449Gln",
"transcript": "XM_047420766.1",
"protein_id": "XP_047276722.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 755,
"cds_start": 1347,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 9526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1503A>G",
"hgvs_p": "p.Gln501Gln",
"transcript": "XM_047420767.1",
"protein_id": "XP_047276723.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 714,
"cds_start": 1503,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 2555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1503A>G",
"hgvs_p": "p.Gln501Gln",
"transcript": "XM_047420768.1",
"protein_id": "XP_047276724.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 633,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1729,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1383A>G",
"hgvs_p": "p.Gln461Gln",
"transcript": "XM_047420769.1",
"protein_id": "XP_047276725.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 593,
"cds_start": 1383,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1609,
"cdna_end": null,
"cdna_length": 2120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.669A>G",
"hgvs_p": "p.Gln223Gln",
"transcript": "XM_047420770.1",
"protein_id": "XP_047276726.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 529,
"cds_start": 669,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 9145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "n.51A>G",
"hgvs_p": null,
"transcript": "ENST00000479537.6",
"protein_id": "ENSP00000418033.2",
"transcript_support_level": 5,
"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": 1129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "n.*833A>G",
"hgvs_p": null,
"transcript": "ENST00000497784.2",
"protein_id": "ENSP00000420119.2",
"transcript_support_level": 5,
"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": 2387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "n.*461A>G",
"hgvs_p": null,
"transcript": "ENST00000642228.1",
"protein_id": "ENSP00000493678.1",
"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": 2574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "n.825A>G",
"hgvs_p": null,
"transcript": "ENST00000642875.1",
"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": 2871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "n.1773A>G",
"hgvs_p": null,
"transcript": "ENST00000644120.1",
"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": 3889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "n.477A>G",
"hgvs_p": null,
"transcript": "ENST00000644650.1",
"protein_id": "ENSP00000493783.1",
"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": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "n.1472A>G",
"hgvs_p": null,
"transcript": "ENST00000644905.1",
"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": 5217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "n.513A>G",
"hgvs_p": null,
"transcript": "ENST00000646334.1",
"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": 1779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "n.1383A>G",
"hgvs_p": null,
"transcript": "ENST00000646730.1",
"protein_id": "ENSP00000494784.1",
"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": 2829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "n.426A>G",
"hgvs_p": null,
"transcript": "ENST00000647434.1",
"protein_id": "ENSP00000495132.1",
"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": 1217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "n.*833A>G",
"hgvs_p": null,
"transcript": "ENST00000497784.2",
"protein_id": "ENSP00000420119.2",
"transcript_support_level": 5,
"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": 2387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "n.*461A>G",
"hgvs_p": null,
"transcript": "ENST00000642228.1",
"protein_id": "ENSP00000493678.1",
"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": 2574,
"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": "ENSG00000289788",
"gene_hgnc_id": null,
"hgvs_c": "n.502+6757T>C",
"hgvs_p": null,
"transcript": "ENST00000700122.1",
"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": 1427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"dbsnp": "rs56216404",
"frequency_reference_population": 0.000747161,
"hom_count_reference_population": 12,
"allele_count_reference_population": 1206,
"gnomad_exomes_af": 0.000441231,
"gnomad_genomes_af": 0.00368371,
"gnomad_exomes_ac": 645,
"gnomad_genomes_ac": 561,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08399999886751175,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.084,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.109,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BA1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000646891.2",
"gene_symbol": "BRAF",
"hgnc_id": 1097,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1383A>G",
"hgvs_p": "p.Gln461Gln"
},
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000700122.1",
"gene_symbol": "ENSG00000289788",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.502+6757T>C",
"hgvs_p": null
}
],
"clinvar_disease": "Cardiovascular phenotype,LEOPARD syndrome 3,Noonan syndrome 7,Noonan syndrome and Noonan-related syndrome,RASopathy,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "LB:1 B:11",
"phenotype_combined": "RASopathy|not specified|Noonan syndrome 7|LEOPARD syndrome 3|Noonan syndrome and Noonan-related syndrome|not provided|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}