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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: 2-201487740-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201487740&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201487740,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001168221.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.5335C>T",
"hgvs_p": "p.Arg1779*",
"transcript": "NM_001168221.2",
"protein_id": "NP_001161693.1",
"transcript_support_level": null,
"aa_start": 1779,
"aa_end": null,
"aa_length": 1820,
"cds_start": 5335,
"cds_end": null,
"cds_length": 5463,
"cdna_start": 5383,
"cdna_end": null,
"cdna_length": 5702,
"mane_select": "ENST00000439140.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168221.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"hgvs_c": "c.5335C>T",
"hgvs_p": "p.Arg1779*",
"transcript": "ENST00000439140.6",
"protein_id": "ENSP00000409937.1",
"transcript_support_level": 1,
"aa_start": 1779,
"aa_end": null,
"aa_length": 1820,
"cds_start": 5335,
"cds_end": null,
"cds_length": 5463,
"cdna_start": 5383,
"cdna_end": null,
"cdna_length": 5702,
"mane_select": "NM_001168221.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439140.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1744C>T",
"hgvs_p": "p.Arg582*",
"transcript": "ENST00000286195.7",
"protein_id": "ENSP00000286195.3",
"transcript_support_level": 1,
"aa_start": 582,
"aa_end": null,
"aa_length": 623,
"cds_start": 1744,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286195.7"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"hgvs_c": "c.4912C>T",
"hgvs_p": "p.Arg1638*",
"transcript": "ENST00000957096.1",
"protein_id": "ENSP00000627155.1",
"transcript_support_level": null,
"aa_start": 1638,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4912,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 4959,
"cdna_end": null,
"cdna_length": 5269,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957096.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Arg583*",
"transcript": "ENST00000957097.1",
"protein_id": "ENSP00000627156.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 624,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1780,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957097.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1744C>T",
"hgvs_p": "p.Arg582*",
"transcript": "NM_152525.6",
"protein_id": "NP_689738.3",
"transcript_support_level": null,
"aa_start": 582,
"aa_end": null,
"aa_length": 623,
"cds_start": 1744,
"cds_end": null,
"cds_length": 1872,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152525.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1177C>T",
"hgvs_p": "p.Arg393*",
"transcript": "ENST00000957098.1",
"protein_id": "ENSP00000627157.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 434,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957098.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.5338C>T",
"hgvs_p": "p.Arg1780*",
"transcript": "XM_047443505.1",
"protein_id": "XP_047299461.1",
"transcript_support_level": null,
"aa_start": 1780,
"aa_end": null,
"aa_length": 1821,
"cds_start": 5338,
"cds_end": null,
"cds_length": 5466,
"cdna_start": 5386,
"cdna_end": null,
"cdna_length": 5705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443505.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.5269C>T",
"hgvs_p": "p.Arg1757*",
"transcript": "XM_047443506.1",
"protein_id": "XP_047299462.1",
"transcript_support_level": null,
"aa_start": 1757,
"aa_end": null,
"aa_length": 1798,
"cds_start": 5269,
"cds_end": null,
"cds_length": 5397,
"cdna_start": 5317,
"cdna_end": null,
"cdna_length": 5636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443506.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.5053C>T",
"hgvs_p": "p.Arg1685*",
"transcript": "XM_047443507.1",
"protein_id": "XP_047299463.1",
"transcript_support_level": null,
"aa_start": 1685,
"aa_end": null,
"aa_length": 1726,
"cds_start": 5053,
"cds_end": null,
"cds_length": 5181,
"cdna_start": 5101,
"cdna_end": null,
"cdna_length": 5420,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443507.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.5050C>T",
"hgvs_p": "p.Arg1684*",
"transcript": "XM_047443508.1",
"protein_id": "XP_047299464.1",
"transcript_support_level": null,
"aa_start": 1684,
"aa_end": null,
"aa_length": 1725,
"cds_start": 5050,
"cds_end": null,
"cds_length": 5178,
"cdna_start": 5098,
"cdna_end": null,
"cdna_length": 5417,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443508.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.4930C>T",
"hgvs_p": "p.Arg1644*",
"transcript": "XM_047443509.1",
"protein_id": "XP_047299465.1",
"transcript_support_level": null,
"aa_start": 1644,
"aa_end": null,
"aa_length": 1685,
"cds_start": 4930,
"cds_end": null,
"cds_length": 5058,
"cdna_start": 4978,
"cdna_end": null,
"cdna_length": 5297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443509.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.4861C>T",
"hgvs_p": "p.Arg1621*",
"transcript": "XM_047443510.1",
"protein_id": "XP_047299466.1",
"transcript_support_level": null,
"aa_start": 1621,
"aa_end": null,
"aa_length": 1662,
"cds_start": 4861,
"cds_end": null,
"cds_length": 4989,
"cdna_start": 4909,
"cdna_end": null,
"cdna_length": 5228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443510.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.3700C>T",
"hgvs_p": "p.Arg1234*",
"transcript": "XM_024452727.2",
"protein_id": "XP_024308495.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3700,
"cds_end": null,
"cds_length": 3828,
"cdna_start": 4357,
"cdna_end": null,
"cdna_length": 4676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452727.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.3700C>T",
"hgvs_p": "p.Arg1234*",
"transcript": "XM_047443511.1",
"protein_id": "XP_047299467.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3700,
"cds_end": null,
"cds_length": 3828,
"cdna_start": 3946,
"cdna_end": null,
"cdna_length": 4265,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443511.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.3700C>T",
"hgvs_p": "p.Arg1234*",
"transcript": "XM_047443513.1",
"protein_id": "XP_047299469.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3700,
"cds_end": null,
"cds_length": 3828,
"cdna_start": 4258,
"cdna_end": null,
"cdna_length": 4577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443513.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1747C>T",
"hgvs_p": "p.Arg583*",
"transcript": "XM_006712331.4",
"protein_id": "XP_006712394.1",
"transcript_support_level": null,
"aa_start": 583,
"aa_end": null,
"aa_length": 624,
"cds_start": 1747,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 1795,
"cdna_end": null,
"cdna_length": 2114,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712331.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1672C>T",
"hgvs_p": "p.Arg558*",
"transcript": "XM_006712332.4",
"protein_id": "XP_006712395.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 599,
"cds_start": 1672,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1720,
"cdna_end": null,
"cdna_length": 2039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712332.4"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Arg557*",
"transcript": "XM_024452728.2",
"protein_id": "XP_024308496.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 598,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1717,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452728.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.*212C>T",
"hgvs_p": null,
"transcript": "NM_001168216.2",
"protein_id": "NP_001161688.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": null,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168216.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"hgvs_c": "c.*212C>T",
"hgvs_p": null,
"transcript": "ENST00000439802.5",
"protein_id": "ENSP00000400672.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 395,
"cds_start": null,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439802.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.*212C>T",
"hgvs_p": null,
"transcript": "XM_006712333.4",
"protein_id": "XP_006712396.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": null,
"cds_end": null,
"cds_length": 1416,
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{
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{
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{
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"strand": false,
"consequences": [
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],
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"biotype": "pseudogene",
"feature": "XR_007069662.1"
},
{
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"strand": true,
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],
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"gene_symbol": "C2CD6",
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"biotype": "pseudogene",
"feature": "ENST00000482942.1"
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],
"gene_symbol": "CATSPERT",
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"dbsnp": "rs140775049",
"frequency_reference_population": 0.0005328337,
"hom_count_reference_population": 1,
"allele_count_reference_population": 860,
"gnomad_exomes_af": 0.00050484,
"gnomad_genomes_af": 0.000801777,
"gnomad_exomes_ac": 738,
"gnomad_genomes_ac": 122,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23000000417232513,
"computational_prediction_selected": "Pathogenic",
"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": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.557,
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001168221.2",
"gene_symbol": "CATSPERT",
"hgnc_id": 14438,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5335C>T",
"hgvs_p": "p.Arg1779*"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000439140.6",
"gene_symbol": "C2CD6",
"hgnc_id": 14438,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5335C>T",
"hgvs_p": "p.Arg1779*"
}
],
"clinvar_disease": "Spermatogenic failure 68",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Spermatogenic failure 68",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}