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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: 2-201491237-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201491237&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201491237,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001168221.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.5104A>C",
"hgvs_p": "p.Thr1702Pro",
"transcript": "NM_001168221.2",
"protein_id": "NP_001161693.1",
"transcript_support_level": null,
"aa_start": 1702,
"aa_end": null,
"aa_length": 1820,
"cds_start": 5104,
"cds_end": null,
"cds_length": 5463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000439140.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168221.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"hgvs_c": "c.5104A>C",
"hgvs_p": "p.Thr1702Pro",
"transcript": "ENST00000439140.6",
"protein_id": "ENSP00000409937.1",
"transcript_support_level": 1,
"aa_start": 1702,
"aa_end": null,
"aa_length": 1820,
"cds_start": 5104,
"cds_end": null,
"cds_length": 5463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001168221.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439140.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1582-3335A>C",
"hgvs_p": null,
"transcript": "ENST00000286195.7",
"protein_id": "ENSP00000286195.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": null,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000286195.7"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"hgvs_c": "c.4681A>C",
"hgvs_p": "p.Thr1561Pro",
"transcript": "ENST00000957096.1",
"protein_id": "ENSP00000627155.1",
"transcript_support_level": null,
"aa_start": 1561,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4681,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957096.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.5107A>C",
"hgvs_p": "p.Thr1703Pro",
"transcript": "XM_047443505.1",
"protein_id": "XP_047299461.1",
"transcript_support_level": null,
"aa_start": 1703,
"aa_end": null,
"aa_length": 1821,
"cds_start": 5107,
"cds_end": null,
"cds_length": 5466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443505.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.5038A>C",
"hgvs_p": "p.Thr1680Pro",
"transcript": "XM_047443506.1",
"protein_id": "XP_047299462.1",
"transcript_support_level": null,
"aa_start": 1680,
"aa_end": null,
"aa_length": 1798,
"cds_start": 5038,
"cds_end": null,
"cds_length": 5397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443506.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.4822A>C",
"hgvs_p": "p.Thr1608Pro",
"transcript": "XM_047443507.1",
"protein_id": "XP_047299463.1",
"transcript_support_level": null,
"aa_start": 1608,
"aa_end": null,
"aa_length": 1726,
"cds_start": 4822,
"cds_end": null,
"cds_length": 5181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443507.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.4819A>C",
"hgvs_p": "p.Thr1607Pro",
"transcript": "XM_047443508.1",
"protein_id": "XP_047299464.1",
"transcript_support_level": null,
"aa_start": 1607,
"aa_end": null,
"aa_length": 1725,
"cds_start": 4819,
"cds_end": null,
"cds_length": 5178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443508.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.4699A>C",
"hgvs_p": "p.Thr1567Pro",
"transcript": "XM_047443509.1",
"protein_id": "XP_047299465.1",
"transcript_support_level": null,
"aa_start": 1567,
"aa_end": null,
"aa_length": 1685,
"cds_start": 4699,
"cds_end": null,
"cds_length": 5058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443509.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.4630A>C",
"hgvs_p": "p.Thr1544Pro",
"transcript": "XM_047443510.1",
"protein_id": "XP_047299466.1",
"transcript_support_level": null,
"aa_start": 1544,
"aa_end": null,
"aa_length": 1662,
"cds_start": 4630,
"cds_end": null,
"cds_length": 4989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443510.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.3469A>C",
"hgvs_p": "p.Thr1157Pro",
"transcript": "XM_024452727.2",
"protein_id": "XP_024308495.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3469,
"cds_end": null,
"cds_length": 3828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024452727.2"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.3469A>C",
"hgvs_p": "p.Thr1157Pro",
"transcript": "XM_047443511.1",
"protein_id": "XP_047299467.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3469,
"cds_end": null,
"cds_length": 3828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443511.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.3469A>C",
"hgvs_p": "p.Thr1157Pro",
"transcript": "XM_047443513.1",
"protein_id": "XP_047299469.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1275,
"cds_start": 3469,
"cds_end": null,
"cds_length": 3828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443513.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1585-3335A>C",
"hgvs_p": null,
"transcript": "ENST00000957097.1",
"protein_id": "ENSP00000627156.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": null,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957097.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1582-3335A>C",
"hgvs_p": null,
"transcript": "NM_152525.6",
"protein_id": "NP_689738.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 623,
"cds_start": null,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152525.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1015-3335A>C",
"hgvs_p": null,
"transcript": "ENST00000957098.1",
"protein_id": "ENSP00000627157.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 434,
"cds_start": null,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957098.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.*50-3335A>C",
"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": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"hgvs_c": "c.*50-3335A>C",
"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": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1585-3335A>C",
"hgvs_p": null,
"transcript": "XM_006712331.4",
"protein_id": "XP_006712394.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": null,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712331.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1510-3335A>C",
"hgvs_p": null,
"transcript": "XM_006712332.4",
"protein_id": "XP_006712395.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 599,
"cds_start": null,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712332.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1507-3335A>C",
"hgvs_p": null,
"transcript": "XM_024452728.2",
"protein_id": "XP_024308496.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 598,
"cds_start": null,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.*50-3335A>C",
"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,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712333.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1391-3335A>C",
"hgvs_p": null,
"transcript": "XM_006712335.5",
"protein_id": "XP_006712398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 467,
"cds_start": null,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712335.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "c.1163-3335A>C",
"hgvs_p": null,
"transcript": "XM_006712336.4",
"protein_id": "XP_006712399.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": null,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712336.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"hgvs_c": "n.5155A>C",
"hgvs_p": null,
"transcript": "XR_007069662.1",
"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_007069662.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "C2CD6",
"gene_hgnc_id": 14438,
"hgvs_c": "n.101-3335A>C",
"hgvs_p": null,
"transcript": "ENST00000482942.1",
"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": "ENST00000482942.1"
}
],
"gene_symbol": "CATSPERT",
"gene_hgnc_id": 14438,
"dbsnp": "rs749660892",
"frequency_reference_population": 0.000008453734,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.0000086605,
"gnomad_genomes_af": 0.00000657117,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09240695834159851,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.056,
"revel_prediction": "Benign",
"alphamissense_score": 0.1063,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.496,
"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_001168221.2",
"gene_symbol": "CATSPERT",
"hgnc_id": 14438,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5104A>C",
"hgvs_p": "p.Thr1702Pro"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000439140.6",
"gene_symbol": "C2CD6",
"hgnc_id": 14438,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5104A>C",
"hgvs_p": "p.Thr1702Pro"
}
],
"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
}