← 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: 10-27184306-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=27184306&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 27184306,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000375940.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.2483-2073G>A",
"hgvs_p": null,
"transcript": "NM_001172303.3",
"protein_id": "NP_001165774.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 879,
"cds_start": -4,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": "ENST00000375940.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.2483-2073G>A",
"hgvs_p": null,
"transcript": "ENST00000375940.9",
"protein_id": "ENSP00000365107.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 879,
"cds_start": -4,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": "NM_001172303.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.2480-2073G>A",
"hgvs_p": null,
"transcript": "ENST00000375946.8",
"protein_id": "ENSP00000365113.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 878,
"cds_start": -4,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3623,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Leu525Leu",
"transcript": "NM_001352570.1",
"protein_id": "NP_001339499.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 534,
"cds_start": 1575,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1766,
"cdna_end": null,
"cdna_length": 3234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Leu525Leu",
"transcript": "ENST00000676997.1",
"protein_id": "ENSP00000503467.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 534,
"cds_start": 1575,
"cds_end": null,
"cds_length": 1605,
"cdna_start": 1704,
"cdna_end": null,
"cdna_length": 3172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.1629C>T",
"hgvs_p": "p.Leu543Leu",
"transcript": "XM_017016887.3",
"protein_id": "XP_016872376.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 552,
"cds_start": 1629,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 3257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.1611C>T",
"hgvs_p": "p.Leu537Leu",
"transcript": "XM_047425993.1",
"protein_id": "XP_047281949.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 546,
"cds_start": 1611,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1868,
"cdna_end": null,
"cdna_length": 3336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.1608C>T",
"hgvs_p": "p.Leu536Leu",
"transcript": "XM_017016888.3",
"protein_id": "XP_016872377.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 545,
"cds_start": 1608,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1799,
"cdna_end": null,
"cdna_length": 3267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.1596C>T",
"hgvs_p": "p.Leu532Leu",
"transcript": "XM_017016889.3",
"protein_id": "XP_016872378.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 541,
"cds_start": 1596,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1756,
"cdna_end": null,
"cdna_length": 3224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.1503C>T",
"hgvs_p": "p.Leu501Leu",
"transcript": "XM_017016884.3",
"protein_id": "XP_016872373.2",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 510,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 3104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.1503C>T",
"hgvs_p": "p.Leu501Leu",
"transcript": "XM_017016895.3",
"protein_id": "XP_016872384.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 510,
"cds_start": 1503,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 1646,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.1470C>T",
"hgvs_p": "p.Leu490Leu",
"transcript": "XM_017016885.3",
"protein_id": "XP_016872374.2",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 499,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1603,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.1470C>T",
"hgvs_p": "p.Leu490Leu",
"transcript": "XM_017016896.2",
"protein_id": "XP_016872385.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 499,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1613,
"cdna_end": null,
"cdna_length": 3081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.1404C>T",
"hgvs_p": "p.Leu468Leu",
"transcript": "XM_024448248.2",
"protein_id": "XP_024304016.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 477,
"cds_start": 1404,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 1595,
"cdna_end": null,
"cdna_length": 3063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.1371C>T",
"hgvs_p": "p.Leu457Leu",
"transcript": "XM_017016898.3",
"protein_id": "XP_016872387.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 466,
"cds_start": 1371,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 3030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.1299C>T",
"hgvs_p": "p.Leu433Leu",
"transcript": "XM_017016890.3",
"protein_id": "XP_016872379.2",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 442,
"cds_start": 1299,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 2900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.1266C>T",
"hgvs_p": "p.Leu422Leu",
"transcript": "XM_017016893.3",
"protein_id": "XP_016872382.2",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 431,
"cds_start": 1266,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1399,
"cdna_end": null,
"cdna_length": 2867,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.2498-2073G>A",
"hgvs_p": null,
"transcript": "NM_001320757.2",
"protein_id": "NP_001307686.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 884,
"cds_start": -4,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.2495-2073G>A",
"hgvs_p": null,
"transcript": "NM_001320756.2",
"protein_id": "NP_001307685.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 883,
"cds_start": -4,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.2480-2073G>A",
"hgvs_p": null,
"transcript": "NM_032844.5",
"protein_id": "NP_116233.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 878,
"cds_start": -4,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.2366-2073G>A",
"hgvs_p": null,
"transcript": "NM_001172304.3",
"protein_id": "NP_001165775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 840,
"cds_start": -4,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.2366-2073G>A",
"hgvs_p": null,
"transcript": "ENST00000342386.10",
"protein_id": "ENSP00000343446.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 840,
"cds_start": -4,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.2015-2073G>A",
"hgvs_p": null,
"transcript": "NM_001372029.1",
"protein_id": "NP_001358958.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 723,
"cds_start": -4,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.2000-2073G>A",
"hgvs_p": null,
"transcript": "NM_001372030.1",
"protein_id": "NP_001358959.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 718,
"cds_start": -4,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.1494-1591C>T",
"hgvs_p": null,
"transcript": "ENST00000676511.1",
"protein_id": "ENSP00000504333.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.1283-2073G>A",
"hgvs_p": null,
"transcript": "ENST00000477034.2",
"protein_id": "ENSP00000478938.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ACBD5",
"gene_hgnc_id": 23338,
"hgvs_c": "c.1272-14036C>T",
"hgvs_p": null,
"transcript": "ENST00000677440.1",
"protein_id": "ENSP00000504580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3709,
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "n.2416-2073G>A",
"hgvs_p": null,
"transcript": "NR_135469.2",
"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": 3990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.2396-2073G>A",
"hgvs_p": null,
"transcript": "XM_006717519.5",
"protein_id": "XP_006717582.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 850,
"cds_start": -4,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.2381-2073G>A",
"hgvs_p": null,
"transcript": "XM_024448243.2",
"protein_id": "XP_024304011.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 845,
"cds_start": -4,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.2378-2073G>A",
"hgvs_p": null,
"transcript": "XM_017016852.3",
"protein_id": "XP_016872341.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 844,
"cds_start": -4,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.2369-2073G>A",
"hgvs_p": null,
"transcript": "XM_005252631.5",
"protein_id": "XP_005252688.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 841,
"cds_start": -4,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.2351-2073G>A",
"hgvs_p": null,
"transcript": "XM_017016853.3",
"protein_id": "XP_016872342.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 835,
"cds_start": -4,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.2336-2073G>A",
"hgvs_p": null,
"transcript": "XM_047425916.1",
"protein_id": "XP_047281872.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 830,
"cds_start": -4,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.2333-2073G>A",
"hgvs_p": null,
"transcript": "XM_047425917.1",
"protein_id": "XP_047281873.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 829,
"cds_start": -4,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.2267-2073G>A",
"hgvs_p": null,
"transcript": "XM_005252632.5",
"protein_id": "XP_005252689.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": -4,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.2264-2073G>A",
"hgvs_p": null,
"transcript": "XM_024448244.2",
"protein_id": "XP_024304012.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 806,
"cds_start": -4,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.2222-2073G>A",
"hgvs_p": null,
"transcript": "XM_047425919.1",
"protein_id": "XP_047281875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 792,
"cds_start": -4,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.2219-2073G>A",
"hgvs_p": null,
"transcript": "XM_047425920.1",
"protein_id": "XP_047281876.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 791,
"cds_start": -4,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"hgvs_c": "c.1487-2073G>A",
"hgvs_p": null,
"transcript": "XM_011519751.3",
"protein_id": "XP_011518053.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 547,
"cds_start": -4,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MASTL",
"gene_hgnc_id": 19042,
"dbsnp": "rs788219",
"frequency_reference_population": 0.088322625,
"hom_count_reference_population": 813,
"allele_count_reference_population": 13445,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0883226,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 13445,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 813,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.699999988079071,
"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": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.563,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000375940.9",
"gene_symbol": "MASTL",
"hgnc_id": 19042,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2483-2073G>A",
"hgvs_p": null
},
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001352570.1",
"gene_symbol": "ACBD5",
"hgnc_id": 23338,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1575C>T",
"hgvs_p": "p.Leu525Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}