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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: 1-229508173-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=229508173&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 229508173,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018230.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133",
"gene_hgnc_id": 18016,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Gly26Asp",
"transcript": "NM_018230.3",
"protein_id": "NP_060700.2",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1156,
"cds_start": 77,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261396.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018230.3"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133",
"gene_hgnc_id": 18016,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Gly26Asp",
"transcript": "ENST00000261396.6",
"protein_id": "ENSP00000261396.3",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 1156,
"cds_start": 77,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018230.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261396.6"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133",
"gene_hgnc_id": 18016,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Gly26Asp",
"transcript": "ENST00000916039.1",
"protein_id": "ENSP00000586098.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1179,
"cds_start": 77,
"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": "ENST00000916039.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133",
"gene_hgnc_id": 18016,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Gly26Asp",
"transcript": "ENST00000942131.1",
"protein_id": "ENSP00000612190.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1156,
"cds_start": 77,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942131.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133",
"gene_hgnc_id": 18016,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Gly26Asp",
"transcript": "ENST00000851658.1",
"protein_id": "ENSP00000521717.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1155,
"cds_start": 77,
"cds_end": null,
"cds_length": 3468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851658.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133",
"gene_hgnc_id": 18016,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Gly26Asp",
"transcript": "ENST00000916040.1",
"protein_id": "ENSP00000586099.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1153,
"cds_start": 77,
"cds_end": null,
"cds_length": 3462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916040.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133",
"gene_hgnc_id": 18016,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Gly26Asp",
"transcript": "ENST00000942132.1",
"protein_id": "ENSP00000612191.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1152,
"cds_start": 77,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942132.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133",
"gene_hgnc_id": 18016,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Gly26Asp",
"transcript": "ENST00000851660.1",
"protein_id": "ENSP00000521719.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1129,
"cds_start": 77,
"cds_end": null,
"cds_length": 3390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851660.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133",
"gene_hgnc_id": 18016,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Gly26Asp",
"transcript": "ENST00000916042.1",
"protein_id": "ENSP00000586101.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1117,
"cds_start": 77,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916042.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133",
"gene_hgnc_id": 18016,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Gly26Asp",
"transcript": "ENST00000916041.1",
"protein_id": "ENSP00000586100.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1103,
"cds_start": 77,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916041.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133",
"gene_hgnc_id": 18016,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Gly26Asp",
"transcript": "ENST00000851661.1",
"protein_id": "ENSP00000521720.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1099,
"cds_start": 77,
"cds_end": null,
"cds_length": 3300,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851661.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133",
"gene_hgnc_id": 18016,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Gly26Asp",
"transcript": "ENST00000851659.1",
"protein_id": "ENSP00000521718.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1054,
"cds_start": 77,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851659.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133",
"gene_hgnc_id": 18016,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Gly26Asp",
"transcript": "ENST00000851656.1",
"protein_id": "ENSP00000521715.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 994,
"cds_start": 77,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851656.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133",
"gene_hgnc_id": 18016,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Gly26Asp",
"transcript": "ENST00000851657.1",
"protein_id": "ENSP00000521716.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 829,
"cds_start": 77,
"cds_end": null,
"cds_length": 2490,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851657.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133",
"gene_hgnc_id": 18016,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Gly26Asp",
"transcript": "ENST00000942133.1",
"protein_id": "ENSP00000612192.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 821,
"cds_start": 77,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942133.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133",
"gene_hgnc_id": 18016,
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Gly26Asp",
"transcript": "XM_047424979.1",
"protein_id": "XP_047280935.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 887,
"cds_start": 77,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424979.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133",
"gene_hgnc_id": 18016,
"hgvs_c": "n.154G>A",
"hgvs_p": null,
"transcript": "ENST00000366678.4",
"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": "ENST00000366678.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133-DT",
"gene_hgnc_id": 55870,
"hgvs_c": "n.94C>T",
"hgvs_p": null,
"transcript": "ENST00000849110.1",
"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": "ENST00000849110.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133-DT",
"gene_hgnc_id": 55870,
"hgvs_c": "n.84C>T",
"hgvs_p": null,
"transcript": "ENST00000849111.1",
"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": "ENST00000849111.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133-DT",
"gene_hgnc_id": 55870,
"hgvs_c": "n.97C>T",
"hgvs_p": null,
"transcript": "ENST00000849116.1",
"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": "ENST00000849116.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133-DT",
"gene_hgnc_id": 55870,
"hgvs_c": "n.-196C>T",
"hgvs_p": null,
"transcript": "ENST00000417605.3",
"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": "ENST00000417605.3"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133-DT",
"gene_hgnc_id": 55870,
"hgvs_c": "n.-171C>T",
"hgvs_p": null,
"transcript": "ENST00000849112.1",
"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": "ENST00000849112.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133-DT",
"gene_hgnc_id": 55870,
"hgvs_c": "n.-231C>T",
"hgvs_p": null,
"transcript": "ENST00000849113.1",
"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": "ENST00000849113.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP133-DT",
"gene_hgnc_id": 55870,
"hgvs_c": "n.-247C>T",
"hgvs_p": null,
"transcript": "ENST00000849114.1",
"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": "ENST00000849114.1"
}
],
"gene_symbol": "NUP133",
"gene_hgnc_id": 18016,
"dbsnp": "rs775873654",
"frequency_reference_population": 0.0000050305102,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000417233,
"gnomad_genomes_af": 0.0000131361,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08105280995368958,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.022,
"revel_prediction": "Benign",
"alphamissense_score": 0.2238,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.54,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_018230.3",
"gene_symbol": "NUP133",
"hgnc_id": 18016,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.77G>A",
"hgvs_p": "p.Gly26Asp"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000849110.1",
"gene_symbol": "NUP133-DT",
"hgnc_id": 55870,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.94C>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
}