← 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: 1-43183621-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43183621&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 43183621,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001195831.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Val169Met",
"transcript": "NM_001378189.1",
"protein_id": "NP_001365118.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1250,
"cds_start": 505,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372492.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378189.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Val169Met",
"transcript": "ENST00000372492.9",
"protein_id": "ENSP00000361570.4",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 1250,
"cds_start": 505,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001378189.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372492.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "n.*404G>A",
"hgvs_p": null,
"transcript": "ENST00000533339.1",
"protein_id": "ENSP00000432547.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000533339.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "n.*404G>A",
"hgvs_p": null,
"transcript": "ENST00000533339.1",
"protein_id": "ENSP00000432547.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000533339.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Val169Met",
"transcript": "NM_001195831.3",
"protein_id": "NP_001182760.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1283,
"cds_start": 505,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195831.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Val169Met",
"transcript": "ENST00000610710.4",
"protein_id": "ENSP00000479773.1",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 1283,
"cds_start": 505,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610710.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Val169Met",
"transcript": "ENST00000891681.1",
"protein_id": "ENSP00000561740.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1250,
"cds_start": 505,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891681.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Val169Met",
"transcript": "ENST00000954489.1",
"protein_id": "ENSP00000624548.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1250,
"cds_start": 505,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954489.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Val169Met",
"transcript": "ENST00000891680.1",
"protein_id": "ENSP00000561739.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1192,
"cds_start": 505,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891680.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Val169Met",
"transcript": "NM_001167965.1",
"protein_id": "NP_001161437.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 698,
"cds_start": 505,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167965.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Val169Met",
"transcript": "NM_152498.3",
"protein_id": "NP_689711.2",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 698,
"cds_start": 505,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152498.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Val169Met",
"transcript": "ENST00000528956.5",
"protein_id": "ENSP00000435310.1",
"transcript_support_level": 2,
"aa_start": 169,
"aa_end": null,
"aa_length": 698,
"cds_start": 505,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528956.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Val169Met",
"transcript": "XM_017000422.3",
"protein_id": "XP_016855911.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1283,
"cds_start": 505,
"cds_end": null,
"cds_length": 3852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000422.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Val169Met",
"transcript": "XM_011540793.1",
"protein_id": "XP_011539095.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1250,
"cds_start": 505,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540793.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Val169Met",
"transcript": "XM_011540794.2",
"protein_id": "XP_011539096.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1250,
"cds_start": 505,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540794.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Val169Met",
"transcript": "XM_011540795.4",
"protein_id": "XP_011539097.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1250,
"cds_start": 505,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540795.4"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Val158Met",
"transcript": "XM_006710383.2",
"protein_id": "XP_006710446.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1239,
"cds_start": 472,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006710383.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Val158Met",
"transcript": "XM_011540796.2",
"protein_id": "XP_011539098.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1239,
"cds_start": 472,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540796.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.472G>A",
"hgvs_p": "p.Val158Met",
"transcript": "XM_047447331.1",
"protein_id": "XP_047303287.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1239,
"cds_start": 472,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447331.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.442G>A",
"hgvs_p": "p.Val148Met",
"transcript": "XM_011540797.3",
"protein_id": "XP_011539099.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 1229,
"cds_start": 442,
"cds_end": null,
"cds_length": 3690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540797.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Val169Met",
"transcript": "XM_047447334.1",
"protein_id": "XP_047303290.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1192,
"cds_start": 505,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447334.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Val169Met",
"transcript": "XM_011540798.2",
"protein_id": "XP_011539100.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1179,
"cds_start": 505,
"cds_end": null,
"cds_length": 3540,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540798.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Val169Met",
"transcript": "XM_011540799.2",
"protein_id": "XP_011539101.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1121,
"cds_start": 505,
"cds_end": null,
"cds_length": 3366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540799.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Val169Met",
"transcript": "XM_011540800.3",
"protein_id": "XP_011539102.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 1062,
"cds_start": 505,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540800.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Val169Met",
"transcript": "XM_047447336.1",
"protein_id": "XP_047303292.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 716,
"cds_start": 505,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047447336.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EBNA1BP2",
"gene_hgnc_id": 15531,
"hgvs_c": "n.234-10758C>T",
"hgvs_p": null,
"transcript": "ENST00000461557.2",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000461557.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EBNA1BP2",
"gene_hgnc_id": 15531,
"hgvs_c": "n.198-1837C>T",
"hgvs_p": null,
"transcript": "ENST00000466927.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000466927.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LOC105378685",
"gene_hgnc_id": null,
"hgvs_c": "n.1567-1837C>T",
"hgvs_p": null,
"transcript": "XR_007066037.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007066037.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "LOC105378685",
"gene_hgnc_id": null,
"hgvs_c": "n.1572-1837C>T",
"hgvs_p": null,
"transcript": "XR_007066038.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007066038.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LOC105378685",
"gene_hgnc_id": null,
"hgvs_c": "n.1658-1837C>T",
"hgvs_p": null,
"transcript": "XR_007066039.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007066039.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "LOC105378685",
"gene_hgnc_id": null,
"hgvs_c": "n.1620-1837C>T",
"hgvs_p": null,
"transcript": "XR_007066040.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007066040.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LOC105378685",
"gene_hgnc_id": null,
"hgvs_c": "n.670-1837C>T",
"hgvs_p": null,
"transcript": "XR_007066041.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007066041.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"hgvs_c": "c.*7G>A",
"hgvs_p": null,
"transcript": "ENST00000529956.5",
"protein_id": "ENSP00000434133.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": null,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529956.5"
}
],
"gene_symbol": "CFAP57",
"gene_hgnc_id": 26485,
"dbsnp": "rs767278420",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18543681502342224,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.1958,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.281,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001195831.3",
"gene_symbol": "CFAP57",
"hgnc_id": 26485,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Val169Met"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000466927.5",
"gene_symbol": "EBNA1BP2",
"hgnc_id": 15531,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.198-1837C>T",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007066037.1",
"gene_symbol": "LOC105378685",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1567-1837C>T",
"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
}