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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: 10-109882601-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=109882601&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 109882601,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001324133.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "NM_020383.4",
"protein_id": "NP_065116.3",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 666,
"cds_start": 872,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000502935.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020383.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "ENST00000502935.6",
"protein_id": "ENSP00000421566.1",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 666,
"cds_start": 872,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020383.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502935.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "ENST00000322238.12",
"protein_id": "ENSP00000324011.8",
"transcript_support_level": 1,
"aa_start": 291,
"aa_end": null,
"aa_length": 642,
"cds_start": 872,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322238.12"
},
{
"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": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "n.647A>G",
"hgvs_p": null,
"transcript": "ENST00000488118.6",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000488118.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "c.995A>G",
"hgvs_p": "p.Lys332Arg",
"transcript": "ENST00000927705.1",
"protein_id": "ENSP00000597764.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 707,
"cds_start": 995,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927705.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "c.992A>G",
"hgvs_p": "p.Lys331Arg",
"transcript": "ENST00000891178.1",
"protein_id": "ENSP00000561237.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 706,
"cds_start": 992,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891178.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "NM_001324133.2",
"protein_id": "NP_001311062.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 695,
"cds_start": 872,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324133.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "ENST00000942378.1",
"protein_id": "ENSP00000612437.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 686,
"cds_start": 872,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942378.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "c.896A>G",
"hgvs_p": "p.Lys299Arg",
"transcript": "ENST00000942379.1",
"protein_id": "ENSP00000612438.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 674,
"cds_start": 896,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942379.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "c.857A>G",
"hgvs_p": "p.Lys286Arg",
"transcript": "NM_001324136.1",
"protein_id": "NP_001311065.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 661,
"cds_start": 857,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324136.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "NM_001324135.2",
"protein_id": "NP_001311064.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 649,
"cds_start": 872,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324135.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "ENST00000891174.1",
"protein_id": "ENSP00000561233.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 649,
"cds_start": 872,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891174.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "NM_001167604.2",
"protein_id": "NP_001161076.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 642,
"cds_start": 872,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001167604.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "c.776A>G",
"hgvs_p": "p.Lys259Arg",
"transcript": "ENST00000891176.1",
"protein_id": "ENSP00000561235.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 634,
"cds_start": 776,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891176.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "ENST00000942377.1",
"protein_id": "ENSP00000612436.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 633,
"cds_start": 872,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942377.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "c.767A>G",
"hgvs_p": "p.Lys256Arg",
"transcript": "ENST00000942380.1",
"protein_id": "ENSP00000612439.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 631,
"cds_start": 767,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942380.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "ENST00000891177.1",
"protein_id": "ENSP00000561236.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 625,
"cds_start": 872,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891177.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "c.743A>G",
"hgvs_p": "p.Lys248Arg",
"transcript": "NM_001324132.2",
"protein_id": "NP_001311061.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 623,
"cds_start": 743,
"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_001324132.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "ENST00000891175.1",
"protein_id": "ENSP00000561234.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 608,
"cds_start": 872,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891175.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "c.632A>G",
"hgvs_p": "p.Lys211Arg",
"transcript": "ENST00000942376.1",
"protein_id": "ENSP00000612435.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 586,
"cds_start": 632,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942376.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg",
"transcript": "ENST00000927704.1",
"protein_id": "ENSP00000597763.1",
"transcript_support_level": null,
"aa_start": 291,
"aa_end": null,
"aa_length": 584,
"cds_start": 872,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927704.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "c.623A>G",
"hgvs_p": "p.Lys208Arg",
"transcript": "ENST00000942382.1",
"protein_id": "ENSP00000612441.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 583,
"cds_start": 623,
"cds_end": null,
"cds_length": 1752,
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"feature": "ENST00000512582.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "n.248A>G",
"hgvs_p": null,
"transcript": "ENST00000513817.5",
"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": "retained_intron",
"feature": "ENST00000513817.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"hgvs_c": "n.-49A>G",
"hgvs_p": null,
"transcript": "ENST00000460055.5",
"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": "ENST00000460055.5"
}
],
"gene_symbol": "XPNPEP1",
"gene_hgnc_id": 12822,
"dbsnp": "rs1276791135",
"frequency_reference_population": 0.000017347838,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.0000171012,
"gnomad_genomes_af": 0.0000197174,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11038994789123535,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.125,
"revel_prediction": "Benign",
"alphamissense_score": 0.0715,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.088,
"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": 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_001324133.2",
"gene_symbol": "XPNPEP1",
"hgnc_id": 12822,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.872A>G",
"hgvs_p": "p.Lys291Arg"
}
],
"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
}