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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: 12-121253327-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=121253327&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 121253327,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_006549.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Pro351Pro",
"transcript": "NM_001270485.2",
"protein_id": "NP_001257414.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 588,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000404169.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270485.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Pro351Pro",
"transcript": "ENST00000404169.8",
"protein_id": "ENSP00000384600.3",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 588,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001270485.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404169.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Pro351Pro",
"transcript": "ENST00000324774.9",
"protein_id": "ENSP00000312741.5",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 588,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324774.9"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Pro351Pro",
"transcript": "ENST00000402834.8",
"protein_id": "ENSP00000384591.4",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 588,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402834.8"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Pro351Pro",
"transcript": "ENST00000392474.6",
"protein_id": "ENSP00000376266.2",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 556,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392474.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Pro351Pro",
"transcript": "ENST00000347034.6",
"protein_id": "ENSP00000321230.3",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 545,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347034.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Pro351Pro",
"transcript": "ENST00000337174.7",
"protein_id": "ENSP00000336634.3",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 541,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337174.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Pro351Pro",
"transcript": "ENST00000412367.6",
"protein_id": "ENSP00000388368.2",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 541,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412367.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Pro351Pro",
"transcript": "ENST00000392473.2",
"protein_id": "ENSP00000376265.2",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 533,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392473.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Pro351Pro",
"transcript": "ENST00000538733.5",
"protein_id": "ENSP00000445944.1",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 498,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538733.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Pro351Pro",
"transcript": "ENST00000446440.6",
"protein_id": "ENSP00000388273.2",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 490,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446440.6"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.414C>T",
"hgvs_p": "p.Pro138Pro",
"transcript": "ENST00000545538.5",
"protein_id": "ENSP00000441352.1",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 343,
"cds_start": 414,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545538.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1146C>T",
"hgvs_p": "p.Pro382Pro",
"transcript": "ENST00000907132.1",
"protein_id": "ENSP00000577191.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 619,
"cds_start": 1146,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907132.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Pro351Pro",
"transcript": "NM_006549.4",
"protein_id": "NP_006540.3",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 588,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006549.4"
},
{
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Pro351Pro",
"transcript": "ENST00000652382.1",
"protein_id": "ENSP00000498824.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 588,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652382.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Pro351Pro",
"transcript": "ENST00000907129.1",
"protein_id": "ENSP00000577188.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 588,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907129.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Pro351Pro",
"transcript": "ENST00000943501.1",
"protein_id": "ENSP00000613560.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 588,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943501.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Pro351Pro",
"transcript": "ENST00000943502.1",
"protein_id": "ENSP00000613561.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 588,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943502.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1005C>T",
"hgvs_p": "p.Pro335Pro",
"transcript": "ENST00000907131.1",
"protein_id": "ENSP00000577190.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 572,
"cds_start": 1005,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907131.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Pro351Pro",
"transcript": "ENST00000907128.1",
"protein_id": "ENSP00000577187.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 570,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907128.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1107C>T",
"hgvs_p": "p.Pro369Pro",
"transcript": "ENST00000943503.1",
"protein_id": "ENSP00000613562.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 563,
"cds_start": 1107,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943503.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Pro351Pro",
"transcript": "NM_001270486.1",
"protein_id": "NP_001257415.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 556,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047428107.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
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"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Pro351Pro",
"transcript": "XM_047428108.1",
"protein_id": "XP_047284064.1",
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"aa_start": 351,
"aa_end": null,
"aa_length": 490,
"cds_start": 1053,
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"cds_length": 1473,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428108.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
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"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.561C>T",
"hgvs_p": "p.Pro187Pro",
"transcript": "XM_011537764.3",
"protein_id": "XP_011536066.1",
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"aa_start": 187,
"aa_end": null,
"aa_length": 424,
"cds_start": 561,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537764.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
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"exon_count": 11,
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"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.228C>T",
"hgvs_p": "p.Pro76Pro",
"transcript": "XM_047428109.1",
"protein_id": "XP_047284065.1",
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"aa_start": 76,
"aa_end": null,
"aa_length": 313,
"cds_start": 228,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428109.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "n.743C>T",
"hgvs_p": null,
"transcript": "ENST00000535524.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000535524.1"
}
],
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"dbsnp": "rs56131600",
"frequency_reference_population": 0.005389794,
"hom_count_reference_population": 368,
"allele_count_reference_population": 8700,
"gnomad_exomes_af": 0.00310491,
"gnomad_genomes_af": 0.0273236,
"gnomad_exomes_ac": 4539,
"gnomad_genomes_ac": 4161,
"gnomad_exomes_homalt": 168,
"gnomad_genomes_homalt": 200,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6800000071525574,
"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": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.516,
"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": "NM_006549.4",
"gene_symbol": "CAMKK2",
"hgnc_id": 1470,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1053C>T",
"hgvs_p": "p.Pro351Pro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}