← 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: 10-18539574-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=18539574&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 18539574,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000324631.13",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1833C>G",
"hgvs_p": "p.Asp611Glu",
"transcript": "NM_201596.3",
"protein_id": "NP_963890.2",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 660,
"cds_start": 1833,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2146,
"cdna_end": null,
"cdna_length": 6129,
"mane_select": "ENST00000324631.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1833C>G",
"hgvs_p": "p.Asp611Glu",
"transcript": "ENST00000324631.13",
"protein_id": "ENSP00000320025.8",
"transcript_support_level": 1,
"aa_start": 611,
"aa_end": null,
"aa_length": 660,
"cds_start": 1833,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 2146,
"cdna_end": null,
"cdna_length": 6129,
"mane_select": "NM_201596.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1671C>G",
"hgvs_p": "p.Asp557Glu",
"transcript": "NM_201590.3",
"protein_id": "NP_963884.2",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 606,
"cds_start": 1671,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1889,
"cdna_end": null,
"cdna_length": 5872,
"mane_select": null,
"mane_plus": "ENST00000377329.10",
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1671C>G",
"hgvs_p": "p.Asp557Glu",
"transcript": "ENST00000377329.10",
"protein_id": "ENSP00000366546.4",
"transcript_support_level": 1,
"aa_start": 557,
"aa_end": null,
"aa_length": 606,
"cds_start": 1671,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1889,
"cdna_end": null,
"cdna_length": 5872,
"mane_select": null,
"mane_plus": "NM_201590.3",
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1761C>G",
"hgvs_p": "p.Asp587Glu",
"transcript": "ENST00000352115.10",
"protein_id": "ENSP00000344474.6",
"transcript_support_level": 1,
"aa_start": 587,
"aa_end": null,
"aa_length": 636,
"cds_start": 1761,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1749C>G",
"hgvs_p": "p.Asp583Glu",
"transcript": "ENST00000282343.13",
"protein_id": "ENSP00000282343.8",
"transcript_support_level": 1,
"aa_start": 583,
"aa_end": null,
"aa_length": 632,
"cds_start": 1749,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1971,
"cdna_end": null,
"cdna_length": 3160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1689C>G",
"hgvs_p": "p.Asp563Glu",
"transcript": "ENST00000377315.6",
"protein_id": "ENSP00000366532.4",
"transcript_support_level": 1,
"aa_start": 563,
"aa_end": null,
"aa_length": 612,
"cds_start": 1689,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 2146,
"cdna_end": null,
"cdna_length": 6129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1668C>G",
"hgvs_p": "p.Asp556Glu",
"transcript": "ENST00000396576.6",
"protein_id": "ENSP00000379821.2",
"transcript_support_level": 1,
"aa_start": 556,
"aa_end": null,
"aa_length": 605,
"cds_start": 1668,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 4464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1554C>G",
"hgvs_p": "p.Asp518Glu",
"transcript": "ENST00000377319.9",
"protein_id": "ENSP00000366536.3",
"transcript_support_level": 1,
"aa_start": 518,
"aa_end": null,
"aa_length": 567,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 6085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1458C>G",
"hgvs_p": "p.Asp486Glu",
"transcript": "ENST00000377331.8",
"protein_id": "ENSP00000366548.4",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 528,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1589,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 1648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1083C>G",
"hgvs_p": "p.Asp361Glu",
"transcript": "ENST00000377328.5",
"protein_id": "ENSP00000366545.1",
"transcript_support_level": 1,
"aa_start": 361,
"aa_end": null,
"aa_length": 410,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 1233,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000240291",
"gene_hgnc_id": 58168,
"hgvs_c": "n.377-275G>C",
"hgvs_p": null,
"transcript": "ENST00000425669.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 1028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1761C>G",
"hgvs_p": "p.Asp587Glu",
"transcript": "NM_201597.3",
"protein_id": "NP_963891.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 636,
"cds_start": 1761,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 6057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1749C>G",
"hgvs_p": "p.Asp583Glu",
"transcript": "NM_201571.4",
"protein_id": "NP_963865.2",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 632,
"cds_start": 1749,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 2505,
"cdna_end": null,
"cdna_length": 6488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1719C>G",
"hgvs_p": "p.Asp573Glu",
"transcript": "NM_201593.3",
"protein_id": "NP_963887.2",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 622,
"cds_start": 1719,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 6015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1689C>G",
"hgvs_p": "p.Asp563Glu",
"transcript": "NM_201570.3",
"protein_id": "NP_963864.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 612,
"cds_start": 1689,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 2146,
"cdna_end": null,
"cdna_length": 6129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1677C>G",
"hgvs_p": "p.Asp559Glu",
"transcript": "NM_201572.4",
"protein_id": "NP_963866.2",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 608,
"cds_start": 1677,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 2433,
"cdna_end": null,
"cdna_length": 6416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1677C>G",
"hgvs_p": "p.Asp559Glu",
"transcript": "ENST00000645287.2",
"protein_id": "ENSP00000496203.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 608,
"cds_start": 1677,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 2121,
"cdna_end": null,
"cdna_length": 6104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1668C>G",
"hgvs_p": "p.Asp556Glu",
"transcript": "NM_000724.4",
"protein_id": "NP_000715.2",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 605,
"cds_start": 1668,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 2216,
"cdna_end": null,
"cdna_length": 6199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1653C>G",
"hgvs_p": "p.Asp551Glu",
"transcript": "ENST00000652391.1",
"protein_id": "ENSP00000498938.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 600,
"cds_start": 1653,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1800,
"cdna_end": null,
"cdna_length": 2501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1635C>G",
"hgvs_p": "p.Asp545Glu",
"transcript": "NM_001167945.2",
"protein_id": "NP_001161417.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 594,
"cds_start": 1635,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 2391,
"cdna_end": null,
"cdna_length": 6374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1635C>G",
"hgvs_p": "p.Asp545Glu",
"transcript": "ENST00000643096.2",
"protein_id": "ENSP00000494209.2",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 583,
"cds_start": 1635,
"cds_end": null,
"cds_length": 1753,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 2120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1596C>G",
"hgvs_p": "p.Asp532Glu",
"transcript": "ENST00000617363.4",
"protein_id": "ENSP00000479756.1",
"transcript_support_level": 5,
"aa_start": 532,
"aa_end": null,
"aa_length": 581,
"cds_start": 1596,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 2097,
"cdna_end": null,
"cdna_length": 4385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1575C>G",
"hgvs_p": "p.Asp525Glu",
"transcript": "NM_001410882.1",
"protein_id": "NP_001397811.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 574,
"cds_start": 1575,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 6015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1575C>G",
"hgvs_p": "p.Asp525Glu",
"transcript": "ENST00000650685.1",
"protein_id": "ENSP00000498460.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 574,
"cds_start": 1575,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1973,
"cdna_end": null,
"cdna_length": 2999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1554C>G",
"hgvs_p": "p.Asp518Glu",
"transcript": "NM_001330060.2",
"protein_id": "NP_001316989.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 567,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 2102,
"cdna_end": null,
"cdna_length": 6085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.918C>G",
"hgvs_p": "p.Asp306Glu",
"transcript": "ENST00000615785.4",
"protein_id": "ENSP00000480260.1",
"transcript_support_level": 5,
"aa_start": 306,
"aa_end": null,
"aa_length": 355,
"cds_start": 918,
"cds_end": null,
"cds_length": 1068,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 3707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1653C>G",
"hgvs_p": "p.Asp551Glu",
"transcript": "XM_006717502.4",
"protein_id": "XP_006717565.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 600,
"cds_start": 1653,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 5929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.1599C>G",
"hgvs_p": "p.Asp533Glu",
"transcript": "XM_011519659.3",
"protein_id": "XP_011517961.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 582,
"cds_start": 1599,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1817,
"cdna_end": null,
"cdna_length": 5800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "c.993C>G",
"hgvs_p": "p.Asp331Glu",
"transcript": "XM_005252591.4",
"protein_id": "XP_005252648.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 380,
"cds_start": 993,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1089,
"cdna_end": null,
"cdna_length": 5072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "n.*974C>G",
"hgvs_p": null,
"transcript": "ENST00000647168.2",
"protein_id": "ENSP00000495854.2",
"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": 2152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "n.*1107C>G",
"hgvs_p": null,
"transcript": "ENST00000651330.1",
"protein_id": "ENSP00000498457.1",
"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": 3405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "n.*1045C>G",
"hgvs_p": null,
"transcript": "ENST00000651468.1",
"protein_id": "ENSP00000498352.1",
"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": 2141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "n.*1072C>G",
"hgvs_p": null,
"transcript": "ENST00000651928.1",
"protein_id": "ENSP00000499177.1",
"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": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "n.*933C>G",
"hgvs_p": null,
"transcript": "ENST00000652478.1",
"protein_id": "ENSP00000498812.1",
"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": 4269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "n.*974C>G",
"hgvs_p": null,
"transcript": "ENST00000647168.2",
"protein_id": "ENSP00000495854.2",
"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": 2152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "n.*1107C>G",
"hgvs_p": null,
"transcript": "ENST00000651330.1",
"protein_id": "ENSP00000498457.1",
"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": 3405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "n.*1045C>G",
"hgvs_p": null,
"transcript": "ENST00000651468.1",
"protein_id": "ENSP00000498352.1",
"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": 2141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "n.*1072C>G",
"hgvs_p": null,
"transcript": "ENST00000651928.1",
"protein_id": "ENSP00000499177.1",
"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": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"hgvs_c": "n.*933C>G",
"hgvs_p": null,
"transcript": "ENST00000652478.1",
"protein_id": "ENSP00000498812.1",
"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": 4269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000240291",
"gene_hgnc_id": 58168,
"hgvs_c": "n.182+2495G>C",
"hgvs_p": null,
"transcript": "ENST00000789365.1",
"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": 735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000240291",
"gene_hgnc_id": 58168,
"hgvs_c": "n.110-275G>C",
"hgvs_p": null,
"transcript": "ENST00000789366.1",
"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": 834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CACNB2",
"gene_hgnc_id": 1402,
"dbsnp": "rs777607595",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05679672956466675,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.177,
"revel_prediction": "Benign",
"alphamissense_score": 0.0835,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.961,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000324631.13",
"gene_symbol": "CACNB2",
"hgnc_id": 1402,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1833C>G",
"hgvs_p": "p.Asp611Glu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000425669.1",
"gene_symbol": "ENSG00000240291",
"hgnc_id": 58168,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.377-275G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Cardiovascular phenotype",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Cardiovascular phenotype",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}