← 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: 20-43715181-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=43715181&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 43715181,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002466.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1872C>G",
"hgvs_p": "p.Ile624Met",
"transcript": "NM_002466.4",
"protein_id": "NP_002457.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 700,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000217026.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002466.4"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1872C>G",
"hgvs_p": "p.Ile624Met",
"transcript": "ENST00000217026.5",
"protein_id": "ENSP00000217026.4",
"transcript_support_level": 1,
"aa_start": 624,
"aa_end": null,
"aa_length": 700,
"cds_start": 1872,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002466.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000217026.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1998C>G",
"hgvs_p": "p.Ile666Met",
"transcript": "ENST00000913824.1",
"protein_id": "ENSP00000583883.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 742,
"cds_start": 1998,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913824.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1956C>G",
"hgvs_p": "p.Ile652Met",
"transcript": "ENST00000913820.1",
"protein_id": "ENSP00000583879.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 728,
"cds_start": 1956,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913820.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1920C>G",
"hgvs_p": "p.Ile640Met",
"transcript": "ENST00000913832.1",
"protein_id": "ENSP00000583891.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 716,
"cds_start": 1920,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913832.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1908C>G",
"hgvs_p": "p.Ile636Met",
"transcript": "ENST00000913817.1",
"protein_id": "ENSP00000583876.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 712,
"cds_start": 1908,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913817.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1896C>G",
"hgvs_p": "p.Ile632Met",
"transcript": "ENST00000913819.1",
"protein_id": "ENSP00000583878.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 708,
"cds_start": 1896,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913819.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1893C>G",
"hgvs_p": "p.Ile631Met",
"transcript": "ENST00000913818.1",
"protein_id": "ENSP00000583877.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 707,
"cds_start": 1893,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913818.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1881C>G",
"hgvs_p": "p.Ile627Met",
"transcript": "ENST00000913823.1",
"protein_id": "ENSP00000583882.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 703,
"cds_start": 1881,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913823.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1866C>G",
"hgvs_p": "p.Ile622Met",
"transcript": "ENST00000913821.1",
"protein_id": "ENSP00000583880.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 698,
"cds_start": 1866,
"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": "ENST00000913821.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1845C>G",
"hgvs_p": "p.Ile615Met",
"transcript": "ENST00000913822.1",
"protein_id": "ENSP00000583881.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 691,
"cds_start": 1845,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913822.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1836C>G",
"hgvs_p": "p.Ile612Met",
"transcript": "ENST00000913835.1",
"protein_id": "ENSP00000583894.1",
"transcript_support_level": null,
"aa_start": 612,
"aa_end": null,
"aa_length": 688,
"cds_start": 1836,
"cds_end": null,
"cds_length": 2067,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913835.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1827C>G",
"hgvs_p": "p.Ile609Met",
"transcript": "ENST00000913828.1",
"protein_id": "ENSP00000583887.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 685,
"cds_start": 1827,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913828.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1800C>G",
"hgvs_p": "p.Ile600Met",
"transcript": "NM_001278610.2",
"protein_id": "NP_001265539.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 676,
"cds_start": 1800,
"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_001278610.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1800C>G",
"hgvs_p": "p.Ile600Met",
"transcript": "ENST00000396863.8",
"protein_id": "ENSP00000380072.4",
"transcript_support_level": 2,
"aa_start": 600,
"aa_end": null,
"aa_length": 676,
"cds_start": 1800,
"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": "ENST00000396863.8"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1779C>G",
"hgvs_p": "p.Ile593Met",
"transcript": "ENST00000913830.1",
"protein_id": "ENSP00000583889.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 669,
"cds_start": 1779,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913830.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1743C>G",
"hgvs_p": "p.Ile581Met",
"transcript": "ENST00000913815.1",
"protein_id": "ENSP00000583874.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 657,
"cds_start": 1743,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913815.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1728C>G",
"hgvs_p": "p.Ile576Met",
"transcript": "ENST00000913836.1",
"protein_id": "ENSP00000583895.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 652,
"cds_start": 1728,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913836.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1728C>G",
"hgvs_p": "p.Ile576Met",
"transcript": "ENST00000913837.1",
"protein_id": "ENSP00000583896.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 652,
"cds_start": 1728,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913837.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1707C>G",
"hgvs_p": "p.Ile569Met",
"transcript": "ENST00000913813.1",
"protein_id": "ENSP00000583872.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 645,
"cds_start": 1707,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913813.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1458C>G",
"hgvs_p": "p.Ile486Met",
"transcript": "ENST00000913814.1",
"protein_id": "ENSP00000583873.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 562,
"cds_start": 1458,
"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": "ENST00000913814.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1386C>G",
"hgvs_p": "p.Ile462Met",
"transcript": "ENST00000913826.1",
"protein_id": "ENSP00000583885.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 538,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913826.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1323C>G",
"hgvs_p": "p.Ile441Met",
"transcript": "ENST00000913825.1",
"protein_id": "ENSP00000583884.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 517,
"cds_start": 1323,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913825.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1293C>G",
"hgvs_p": "p.Ile431Met",
"transcript": "ENST00000913827.1",
"protein_id": "ENSP00000583886.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 507,
"cds_start": 1293,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913827.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1218C>G",
"hgvs_p": "p.Ile406Met",
"transcript": "ENST00000913829.1",
"protein_id": "ENSP00000583888.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 482,
"cds_start": 1218,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913829.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1200C>G",
"hgvs_p": "p.Ile400Met",
"transcript": "ENST00000913831.1",
"protein_id": "ENSP00000583890.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 476,
"cds_start": 1200,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913831.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1173C>G",
"hgvs_p": "p.Ile391Met",
"transcript": "ENST00000913838.1",
"protein_id": "ENSP00000583897.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 467,
"cds_start": 1173,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913838.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1035C>G",
"hgvs_p": "p.Ile345Met",
"transcript": "ENST00000913833.1",
"protein_id": "ENSP00000583892.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 421,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913833.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.642C>G",
"hgvs_p": "p.Ile214Met",
"transcript": "ENST00000913834.1",
"protein_id": "ENSP00000583893.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 290,
"cds_start": 642,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913834.1"
},
{
"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": 12,
"intron_rank_end": null,
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1825-40C>G",
"hgvs_p": null,
"transcript": "ENST00000913816.1",
"protein_id": "ENSP00000583875.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 671,
"cds_start": null,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913816.1"
},
{
"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": "MYBL2",
"gene_hgnc_id": 7548,
"hgvs_c": "c.1825-778C>G",
"hgvs_p": null,
"transcript": "ENST00000868544.1",
"protein_id": "ENSP00000538603.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 650,
"cds_start": null,
"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": "ENST00000868544.1"
}
],
"gene_symbol": "MYBL2",
"gene_hgnc_id": 7548,
"dbsnp": "rs11556379",
"frequency_reference_population": 0.051294442,
"hom_count_reference_population": 2394,
"allele_count_reference_population": 82800,
"gnomad_exomes_af": 0.052433,
"gnomad_genomes_af": 0.0403674,
"gnomad_exomes_ac": 76651,
"gnomad_genomes_ac": 6149,
"gnomad_exomes_homalt": 2211,
"gnomad_genomes_homalt": 183,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0018990039825439453,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20000000298023224,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.088,
"revel_prediction": "Benign",
"alphamissense_score": 0.0659,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.149,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.2,
"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": "NM_002466.4",
"gene_symbol": "MYBL2",
"hgnc_id": 7548,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1872C>G",
"hgvs_p": "p.Ile624Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}