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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: 22-43528929-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=43528929&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 43528929,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022785.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.4430A>G",
"hgvs_p": "p.His1477Arg",
"transcript": "NM_022785.4",
"protein_id": "NP_073622.2",
"transcript_support_level": null,
"aa_start": 1477,
"aa_end": null,
"aa_length": 1501,
"cds_start": 4430,
"cds_end": null,
"cds_length": 4506,
"cdna_start": 4712,
"cdna_end": null,
"cdna_length": 4863,
"mane_select": "ENST00000262726.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022785.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.4430A>G",
"hgvs_p": "p.His1477Arg",
"transcript": "ENST00000262726.12",
"protein_id": "ENSP00000262726.7",
"transcript_support_level": 2,
"aa_start": 1477,
"aa_end": null,
"aa_length": 1501,
"cds_start": 4430,
"cds_end": null,
"cds_length": 4506,
"cdna_start": 4712,
"cdna_end": null,
"cdna_length": 4863,
"mane_select": "NM_022785.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262726.12"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.3974A>G",
"hgvs_p": "p.His1325Arg",
"transcript": "ENST00000396231.6",
"protein_id": "ENSP00000379533.2",
"transcript_support_level": 1,
"aa_start": 1325,
"aa_end": null,
"aa_length": 1349,
"cds_start": 3974,
"cds_end": null,
"cds_length": 4050,
"cdna_start": 4239,
"cdna_end": null,
"cdna_length": 4424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396231.6"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "n.1067A>G",
"hgvs_p": null,
"transcript": "ENST00000461800.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1252,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000461800.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.4688A>G",
"hgvs_p": "p.His1563Arg",
"transcript": "ENST00000970826.1",
"protein_id": "ENSP00000640885.1",
"transcript_support_level": null,
"aa_start": 1563,
"aa_end": null,
"aa_length": 1587,
"cds_start": 4688,
"cds_end": null,
"cds_length": 4764,
"cdna_start": 4971,
"cdna_end": null,
"cdna_length": 5121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970826.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.4430A>G",
"hgvs_p": "p.His1477Arg",
"transcript": "ENST00000970827.1",
"protein_id": "ENSP00000640886.1",
"transcript_support_level": null,
"aa_start": 1477,
"aa_end": null,
"aa_length": 1501,
"cds_start": 4430,
"cds_end": null,
"cds_length": 4506,
"cdna_start": 4549,
"cdna_end": null,
"cdna_length": 4701,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970827.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.3974A>G",
"hgvs_p": "p.His1325Arg",
"transcript": "NM_198856.3",
"protein_id": "NP_942153.1",
"transcript_support_level": null,
"aa_start": 1325,
"aa_end": null,
"aa_length": 1349,
"cds_start": 3974,
"cds_end": null,
"cds_length": 4050,
"cdna_start": 4354,
"cdna_end": null,
"cdna_length": 4505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198856.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.4766A>G",
"hgvs_p": "p.His1589Arg",
"transcript": "XM_011530316.2",
"protein_id": "XP_011528618.1",
"transcript_support_level": null,
"aa_start": 1589,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4766,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 5229,
"cdna_end": null,
"cdna_length": 5380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530316.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.4766A>G",
"hgvs_p": "p.His1589Arg",
"transcript": "XM_017028910.3",
"protein_id": "XP_016884399.1",
"transcript_support_level": null,
"aa_start": 1589,
"aa_end": null,
"aa_length": 1613,
"cds_start": 4766,
"cds_end": null,
"cds_length": 4842,
"cdna_start": 5077,
"cdna_end": null,
"cdna_length": 5228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028910.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.4688A>G",
"hgvs_p": "p.His1563Arg",
"transcript": "XM_005261704.3",
"protein_id": "XP_005261761.1",
"transcript_support_level": null,
"aa_start": 1563,
"aa_end": null,
"aa_length": 1587,
"cds_start": 4688,
"cds_end": null,
"cds_length": 4764,
"cdna_start": 4970,
"cdna_end": null,
"cdna_length": 5121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261704.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.4688A>G",
"hgvs_p": "p.His1563Arg",
"transcript": "XM_011530317.4",
"protein_id": "XP_011528619.1",
"transcript_support_level": null,
"aa_start": 1563,
"aa_end": null,
"aa_length": 1587,
"cds_start": 4688,
"cds_end": null,
"cds_length": 4764,
"cdna_start": 4833,
"cdna_end": null,
"cdna_length": 4984,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530317.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.4610A>G",
"hgvs_p": "p.His1537Arg",
"transcript": "XM_011530318.4",
"protein_id": "XP_011528620.1",
"transcript_support_level": null,
"aa_start": 1537,
"aa_end": null,
"aa_length": 1561,
"cds_start": 4610,
"cds_end": null,
"cds_length": 4686,
"cdna_start": 4921,
"cdna_end": null,
"cdna_length": 5072,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530318.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.4508A>G",
"hgvs_p": "p.His1503Arg",
"transcript": "XM_017028911.3",
"protein_id": "XP_016884400.1",
"transcript_support_level": null,
"aa_start": 1503,
"aa_end": null,
"aa_length": 1527,
"cds_start": 4508,
"cds_end": null,
"cds_length": 4584,
"cdna_start": 4819,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028911.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.4370A>G",
"hgvs_p": "p.His1457Arg",
"transcript": "XM_011530319.4",
"protein_id": "XP_011528621.1",
"transcript_support_level": null,
"aa_start": 1457,
"aa_end": null,
"aa_length": 1481,
"cds_start": 4370,
"cds_end": null,
"cds_length": 4446,
"cdna_start": 4621,
"cdna_end": null,
"cdna_length": 4772,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530319.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.4232A>G",
"hgvs_p": "p.His1411Arg",
"transcript": "XM_011530321.4",
"protein_id": "XP_011528623.1",
"transcript_support_level": null,
"aa_start": 1411,
"aa_end": null,
"aa_length": 1435,
"cds_start": 4232,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 4612,
"cdna_end": null,
"cdna_length": 4763,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530321.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.4232A>G",
"hgvs_p": "p.His1411Arg",
"transcript": "XM_047441461.1",
"protein_id": "XP_047297417.1",
"transcript_support_level": null,
"aa_start": 1411,
"aa_end": null,
"aa_length": 1435,
"cds_start": 4232,
"cds_end": null,
"cds_length": 4308,
"cdna_start": 4740,
"cdna_end": null,
"cdna_length": 4891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441461.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.4226A>G",
"hgvs_p": "p.His1409Arg",
"transcript": "XM_011530323.3",
"protein_id": "XP_011528625.1",
"transcript_support_level": null,
"aa_start": 1409,
"aa_end": null,
"aa_length": 1433,
"cds_start": 4226,
"cds_end": null,
"cds_length": 4302,
"cdna_start": 4358,
"cdna_end": null,
"cdna_length": 4509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530323.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.4214A>G",
"hgvs_p": "p.His1405Arg",
"transcript": "XM_047441462.1",
"protein_id": "XP_047297418.1",
"transcript_support_level": null,
"aa_start": 1405,
"aa_end": null,
"aa_length": 1429,
"cds_start": 4214,
"cds_end": null,
"cds_length": 4290,
"cdna_start": 4465,
"cdna_end": null,
"cdna_length": 4616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441462.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.3944A>G",
"hgvs_p": "p.His1315Arg",
"transcript": "XM_011530325.3",
"protein_id": "XP_011528627.1",
"transcript_support_level": null,
"aa_start": 1315,
"aa_end": null,
"aa_length": 1339,
"cds_start": 3944,
"cds_end": null,
"cds_length": 4020,
"cdna_start": 4101,
"cdna_end": null,
"cdna_length": 4252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530325.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.3764A>G",
"hgvs_p": "p.His1255Arg",
"transcript": "XM_011530327.3",
"protein_id": "XP_011528629.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1279,
"cds_start": 3764,
"cds_end": null,
"cds_length": 3840,
"cdna_start": 3850,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011530327.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "c.2582A>G",
"hgvs_p": "p.His861Arg",
"transcript": "XM_047441464.1",
"protein_id": "XP_047297420.1",
"transcript_support_level": null,
"aa_start": 861,
"aa_end": null,
"aa_length": 885,
"cds_start": 2582,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 2672,
"cdna_end": null,
"cdna_length": 2823,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441464.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"hgvs_c": "n.243A>G",
"hgvs_p": null,
"transcript": "ENST00000477145.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 392,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000477145.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFCAB6",
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"hgvs_c": "n.332A>G",
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"transcript": "ENST00000483324.5",
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"transcript_support_level": 2,
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"cdna_length": 483,
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"biotype": "pseudogene",
"feature": "ENST00000483324.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EFCAB6-AS1",
"gene_hgnc_id": 39999,
"hgvs_c": "n.392-5924T>C",
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"transcript": "ENST00000431327.4",
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"transcript_support_level": 2,
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"aa_end": null,
"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2656,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000431327.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EFCAB6-AS1",
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"hgvs_c": "n.248+10332T>C",
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"transcript": "ENST00000656483.1",
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"transcript_support_level": null,
"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": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000656483.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EFCAB6-AS1",
"gene_hgnc_id": 39999,
"hgvs_c": "n.361-8512T>C",
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"transcript": "ENST00000836181.1",
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"transcript_support_level": null,
"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": 619,
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"biotype": "pseudogene",
"feature": "ENST00000836181.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EFCAB6-AS1",
"gene_hgnc_id": 39999,
"hgvs_c": "n.245-5924T>C",
"hgvs_p": null,
"transcript": "NR_046563.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1997,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_046563.1"
}
],
"gene_symbol": "EFCAB6",
"gene_hgnc_id": 24204,
"dbsnp": "rs4994541",
"frequency_reference_population": 0.000003428899,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.0000034289,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6092631816864014,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.455,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.462,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.491,
"phylop100way_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022785.4",
"gene_symbol": "EFCAB6",
"hgnc_id": 24204,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.4430A>G",
"hgvs_p": "p.His1477Arg"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000431327.4",
"gene_symbol": "EFCAB6-AS1",
"hgnc_id": 39999,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.392-5924T>C",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}