← 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: 7-44220272-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=44220272&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 44220272,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000395749.7",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1791G>A",
"hgvs_p": "p.Pro597Pro",
"transcript": "NM_001220.5",
"protein_id": "NP_001211.3",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 666,
"cds_start": 1791,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1964,
"cdna_end": null,
"cdna_length": 4545,
"mane_select": "ENST00000395749.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1791G>A",
"hgvs_p": "p.Pro597Pro",
"transcript": "ENST00000395749.7",
"protein_id": "ENSP00000379098.2",
"transcript_support_level": 1,
"aa_start": 597,
"aa_end": null,
"aa_length": 666,
"cds_start": 1791,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1964,
"cdna_end": null,
"cdna_length": 4545,
"mane_select": "NM_001220.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1419G>A",
"hgvs_p": "p.Pro473Pro",
"transcript": "ENST00000440254.6",
"protein_id": "ENSP00000397937.2",
"transcript_support_level": 1,
"aa_start": 473,
"aa_end": null,
"aa_length": 542,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 2097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1347G>A",
"hgvs_p": "p.Pro449Pro",
"transcript": "ENST00000395747.6",
"protein_id": "ENSP00000379096.2",
"transcript_support_level": 1,
"aa_start": 449,
"aa_end": null,
"aa_length": 518,
"cds_start": 1347,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1344G>A",
"hgvs_p": "p.Pro448Pro",
"transcript": "ENST00000258682.10",
"protein_id": "ENSP00000258682.6",
"transcript_support_level": 1,
"aa_start": 448,
"aa_end": null,
"aa_length": 517,
"cds_start": 1344,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 1652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1302G>A",
"hgvs_p": "p.Pro434Pro",
"transcript": "ENST00000358707.7",
"protein_id": "ENSP00000351542.3",
"transcript_support_level": 1,
"aa_start": 434,
"aa_end": null,
"aa_length": 503,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 1895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1269G>A",
"hgvs_p": "p.Pro423Pro",
"transcript": "ENST00000347193.8",
"protein_id": "ENSP00000326544.6",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 492,
"cds_start": 1269,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1272,
"cdna_end": null,
"cdna_length": 1577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Pro410Pro",
"transcript": "ENST00000353625.8",
"protein_id": "ENSP00000326427.5",
"transcript_support_level": 1,
"aa_start": 410,
"aa_end": null,
"aa_length": 479,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 1624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1140G>A",
"hgvs_p": "p.Pro380Pro",
"transcript": "ENST00000346990.8",
"protein_id": "ENSP00000326518.5",
"transcript_support_level": 1,
"aa_start": 380,
"aa_end": null,
"aa_length": 449,
"cds_start": 1140,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1143,
"cdna_end": null,
"cdna_length": 1448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1476G>A",
"hgvs_p": "p.Pro492Pro",
"transcript": "ENST00000700235.1",
"protein_id": "ENSP00000514874.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 561,
"cds_start": 1476,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1504,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1431G>A",
"hgvs_p": "p.Pro477Pro",
"transcript": "ENST00000700287.1",
"protein_id": "ENSP00000514919.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 546,
"cds_start": 1431,
"cds_end": null,
"cds_length": 1641,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 1749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1419G>A",
"hgvs_p": "p.Pro473Pro",
"transcript": "NM_001293170.2",
"protein_id": "NP_001280099.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 542,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 2386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1419G>A",
"hgvs_p": "p.Pro473Pro",
"transcript": "NM_172078.3",
"protein_id": "NP_742075.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 542,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1592,
"cdna_end": null,
"cdna_length": 4173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1419G>A",
"hgvs_p": "p.Pro473Pro",
"transcript": "ENST00000350811.7",
"protein_id": "ENSP00000326375.5",
"transcript_support_level": 2,
"aa_start": 473,
"aa_end": null,
"aa_length": 542,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1419G>A",
"hgvs_p": "p.Pro473Pro",
"transcript": "ENST00000700285.1",
"protein_id": "ENSP00000514918.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 542,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 2249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1347G>A",
"hgvs_p": "p.Pro449Pro",
"transcript": "NM_172079.3",
"protein_id": "NP_742076.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 518,
"cds_start": 1347,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 4101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1344G>A",
"hgvs_p": "p.Pro448Pro",
"transcript": "NM_172080.3",
"protein_id": "NP_742077.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 517,
"cds_start": 1344,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 4098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1341G>A",
"hgvs_p": "p.Pro447Pro",
"transcript": "ENST00000700233.1",
"protein_id": "ENSP00000514871.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 516,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1302G>A",
"hgvs_p": "p.Pro434Pro",
"transcript": "NM_172081.3",
"protein_id": "NP_742078.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 503,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 4056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1269G>A",
"hgvs_p": "p.Pro423Pro",
"transcript": "NM_172082.3",
"protein_id": "NP_742079.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 492,
"cds_start": 1269,
"cds_end": null,
"cds_length": 1479,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 4023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1230G>A",
"hgvs_p": "p.Pro410Pro",
"transcript": "NM_172083.3",
"protein_id": "NP_742080.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 479,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1140G>A",
"hgvs_p": "p.Pro380Pro",
"transcript": "NM_172084.3",
"protein_id": "NP_742081.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 449,
"cds_start": 1140,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 3894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1032G>A",
"hgvs_p": "p.Pro344Pro",
"transcript": "ENST00000470984.6",
"protein_id": "ENSP00000514879.1",
"transcript_support_level": 4,
"aa_start": 344,
"aa_end": null,
"aa_length": 413,
"cds_start": 1032,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1587,
"cdna_end": null,
"cdna_length": 1892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1032G>A",
"hgvs_p": "p.Pro344Pro",
"transcript": "ENST00000497584.5",
"protein_id": "ENSP00000514873.1",
"transcript_support_level": 5,
"aa_start": 344,
"aa_end": null,
"aa_length": 413,
"cds_start": 1032,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1670,
"cdna_end": null,
"cdna_length": 2134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1032G>A",
"hgvs_p": "p.Pro344Pro",
"transcript": "ENST00000700237.1",
"protein_id": "ENSP00000514876.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 413,
"cds_start": 1032,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1370,
"cdna_end": null,
"cdna_length": 1697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.987G>A",
"hgvs_p": "p.Pro329Pro",
"transcript": "ENST00000700240.1",
"protein_id": "ENSP00000514880.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 398,
"cds_start": 987,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 1824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.960G>A",
"hgvs_p": "p.Pro320Pro",
"transcript": "ENST00000700238.1",
"protein_id": "ENSP00000514877.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 389,
"cds_start": 960,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1388,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.957G>A",
"hgvs_p": "p.Pro319Pro",
"transcript": "ENST00000700290.1",
"protein_id": "ENSP00000514921.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 388,
"cds_start": 957,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 1641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.954G>A",
"hgvs_p": "p.Pro318Pro",
"transcript": "ENST00000700288.1",
"protein_id": "ENSP00000514920.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 371,
"cds_start": 954,
"cds_end": null,
"cds_length": 1118,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 1118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"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": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.816G>A",
"hgvs_p": "p.Pro272Pro",
"transcript": "ENST00000433930.2",
"protein_id": "ENSP00000388951.2",
"transcript_support_level": 4,
"aa_start": 272,
"aa_end": null,
"aa_length": 310,
"cds_start": 816,
"cds_end": null,
"cds_length": 935,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1920G>A",
"hgvs_p": "p.Pro640Pro",
"transcript": "XM_011515547.2",
"protein_id": "XP_011513849.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 709,
"cds_start": 1920,
"cds_end": null,
"cds_length": 2130,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1875G>A",
"hgvs_p": "p.Pro625Pro",
"transcript": "XM_011515549.2",
"protein_id": "XP_011513851.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 694,
"cds_start": 1875,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 4629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1848G>A",
"hgvs_p": "p.Pro616Pro",
"transcript": "XM_011515550.2",
"protein_id": "XP_011513852.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 685,
"cds_start": 1848,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 4602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1848G>A",
"hgvs_p": "p.Pro616Pro",
"transcript": "XM_011515551.2",
"protein_id": "XP_011513853.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 685,
"cds_start": 1848,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 4602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1845G>A",
"hgvs_p": "p.Pro615Pro",
"transcript": "XM_011515552.2",
"protein_id": "XP_011513854.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 684,
"cds_start": 1845,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2018,
"cdna_end": null,
"cdna_length": 4599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1806G>A",
"hgvs_p": "p.Pro602Pro",
"transcript": "XM_011515553.2",
"protein_id": "XP_011513855.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 671,
"cds_start": 1806,
"cds_end": null,
"cds_length": 2016,
"cdna_start": 1979,
"cdna_end": null,
"cdna_length": 4560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1803G>A",
"hgvs_p": "p.Pro601Pro",
"transcript": "XM_017012660.2",
"protein_id": "XP_016868149.1",
"transcript_support_level": null,
"aa_start": 601,
"aa_end": null,
"aa_length": 670,
"cds_start": 1803,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1800G>A",
"hgvs_p": "p.Pro600Pro",
"transcript": "XM_011515554.2",
"protein_id": "XP_011513856.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 669,
"cds_start": 1800,
"cds_end": null,
"cds_length": 2010,
"cdna_start": 1973,
"cdna_end": null,
"cdna_length": 4554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1791G>A",
"hgvs_p": "p.Pro597Pro",
"transcript": "XM_011515555.2",
"protein_id": "XP_011513857.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 666,
"cds_start": 1791,
"cds_end": null,
"cds_length": 2001,
"cdna_start": 1964,
"cdna_end": null,
"cdna_length": 4545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1776G>A",
"hgvs_p": "p.Pro592Pro",
"transcript": "XM_011515556.2",
"protein_id": "XP_011513858.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 661,
"cds_start": 1776,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 4530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1773G>A",
"hgvs_p": "p.Pro591Pro",
"transcript": "XM_011515557.2",
"protein_id": "XP_011513859.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 660,
"cds_start": 1773,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 4527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1761G>A",
"hgvs_p": "p.Pro587Pro",
"transcript": "XM_017012661.2",
"protein_id": "XP_016868150.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 656,
"cds_start": 1761,
"cds_end": null,
"cds_length": 1971,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1719G>A",
"hgvs_p": "p.Pro573Pro",
"transcript": "XM_047420880.1",
"protein_id": "XP_047276836.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 642,
"cds_start": 1719,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 1892,
"cdna_end": null,
"cdna_length": 4473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1677G>A",
"hgvs_p": "p.Pro559Pro",
"transcript": "XM_024446945.2",
"protein_id": "XP_024302713.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 628,
"cds_start": 1677,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 4431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1674G>A",
"hgvs_p": "p.Pro558Pro",
"transcript": "XM_047420881.1",
"protein_id": "XP_047276837.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 627,
"cds_start": 1674,
"cds_end": null,
"cds_length": 1884,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 4428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1671G>A",
"hgvs_p": "p.Pro557Pro",
"transcript": "XM_006715781.3",
"protein_id": "XP_006715844.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 626,
"cds_start": 1671,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 4425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1602G>A",
"hgvs_p": "p.Pro534Pro",
"transcript": "XM_017012662.2",
"protein_id": "XP_016868151.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 603,
"cds_start": 1602,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1775,
"cdna_end": null,
"cdna_length": 4356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1560G>A",
"hgvs_p": "p.Pro520Pro",
"transcript": "XM_047420882.1",
"protein_id": "XP_047276838.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 589,
"cds_start": 1560,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1733,
"cdna_end": null,
"cdna_length": 4314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1533G>A",
"hgvs_p": "p.Pro511Pro",
"transcript": "XM_011515559.3",
"protein_id": "XP_011513861.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 580,
"cds_start": 1533,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1374G>A",
"hgvs_p": "p.Pro458Pro",
"transcript": "XM_005249862.4",
"protein_id": "XP_005249919.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 527,
"cds_start": 1374,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 4128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1347G>A",
"hgvs_p": "p.Pro449Pro",
"transcript": "XM_006715784.3",
"protein_id": "XP_006715847.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 518,
"cds_start": 1347,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1520,
"cdna_end": null,
"cdna_length": 4101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1299G>A",
"hgvs_p": "p.Pro433Pro",
"transcript": "XM_017012664.2",
"protein_id": "XP_016868153.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 502,
"cds_start": 1299,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1472,
"cdna_end": null,
"cdna_length": 4053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1275G>A",
"hgvs_p": "p.Pro425Pro",
"transcript": "XM_005249864.4",
"protein_id": "XP_005249921.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 494,
"cds_start": 1275,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1448,
"cdna_end": null,
"cdna_length": 4029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "c.1272G>A",
"hgvs_p": "p.Pro424Pro",
"transcript": "XM_017012665.2",
"protein_id": "XP_016868154.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 493,
"cds_start": 1272,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 4026,
"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": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.*212G>A",
"hgvs_p": null,
"transcript": "ENST00000353185.7",
"protein_id": "ENSP00000326600.4",
"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": 1683,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.345G>A",
"hgvs_p": null,
"transcript": "ENST00000425809.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 867,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.246G>A",
"hgvs_p": null,
"transcript": "ENST00000466584.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 632,
"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": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.1492G>A",
"hgvs_p": null,
"transcript": "ENST00000484972.6",
"protein_id": null,
"transcript_support_level": 4,
"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": 1752,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.1875G>A",
"hgvs_p": null,
"transcript": "ENST00000489429.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 2245,
"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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.*1074G>A",
"hgvs_p": null,
"transcript": "ENST00000523845.5",
"protein_id": "ENSP00000428912.1",
"transcript_support_level": 2,
"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": 1856,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.*232G>A",
"hgvs_p": null,
"transcript": "ENST00000700234.1",
"protein_id": "ENSP00000514872.1",
"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": 751,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.*481G>A",
"hgvs_p": null,
"transcript": "ENST00000700236.1",
"protein_id": "ENSP00000514875.1",
"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": 1128,
"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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.*819G>A",
"hgvs_p": null,
"transcript": "ENST00000700239.1",
"protein_id": "ENSP00000514878.1",
"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": 1601,
"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": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.*1120G>A",
"hgvs_p": null,
"transcript": "ENST00000700241.1",
"protein_id": "ENSP00000514881.1",
"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": 1657,
"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": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.1299G>A",
"hgvs_p": null,
"transcript": "ENST00000700283.1",
"protein_id": "ENSP00000514916.1",
"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": 3363,
"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": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.*1648G>A",
"hgvs_p": null,
"transcript": "ENST00000700284.1",
"protein_id": "ENSP00000514917.1",
"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": 4481,
"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": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.1920G>A",
"hgvs_p": null,
"transcript": "ENST00000700286.1",
"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": 2235,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.1164G>A",
"hgvs_p": null,
"transcript": "ENST00000700289.1",
"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": 1238,
"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": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.1216G>A",
"hgvs_p": null,
"transcript": "ENST00000700291.1",
"protein_id": "ENSP00000514922.1",
"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": 1552,
"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": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.*212G>A",
"hgvs_p": null,
"transcript": "ENST00000353185.7",
"protein_id": "ENSP00000326600.4",
"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": 1683,
"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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.*1074G>A",
"hgvs_p": null,
"transcript": "ENST00000523845.5",
"protein_id": "ENSP00000428912.1",
"transcript_support_level": 2,
"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": 1856,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.*232G>A",
"hgvs_p": null,
"transcript": "ENST00000700234.1",
"protein_id": "ENSP00000514872.1",
"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": 751,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.*481G>A",
"hgvs_p": null,
"transcript": "ENST00000700236.1",
"protein_id": "ENSP00000514875.1",
"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": 1128,
"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": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.*819G>A",
"hgvs_p": null,
"transcript": "ENST00000700239.1",
"protein_id": "ENSP00000514878.1",
"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": 1601,
"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": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.*1120G>A",
"hgvs_p": null,
"transcript": "ENST00000700241.1",
"protein_id": "ENSP00000514881.1",
"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": 1657,
"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": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"hgvs_c": "n.*1648G>A",
"hgvs_p": null,
"transcript": "ENST00000700284.1",
"protein_id": "ENSP00000514917.1",
"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": 4481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CAMK2B",
"gene_hgnc_id": 1461,
"dbsnp": "rs1127065",
"frequency_reference_population": 0.4106029,
"hom_count_reference_population": 138916,
"allele_count_reference_population": 662020,
"gnomad_exomes_af": 0.415467,
"gnomad_genomes_af": 0.363887,
"gnomad_exomes_ac": 606688,
"gnomad_genomes_ac": 55332,
"gnomad_exomes_homalt": 128176,
"gnomad_genomes_homalt": 10740,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"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": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.826,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000395749.7",
"gene_symbol": "CAMK2B",
"hgnc_id": 1461,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1791G>A",
"hgvs_p": "p.Pro597Pro"
}
],
"clinvar_disease": " autosomal dominant 54,CAMK2B-related disorder,Intellectual disability,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Intellectual disability, autosomal dominant 54|not provided|CAMK2B-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}