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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: 11-47835701-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=47835701&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 47835701,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_015231.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Thr317Ala",
"transcript": "NM_015231.3",
"protein_id": "NP_056046.2",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1402,
"cds_start": 949,
"cds_end": null,
"cds_length": 4209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000378460.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015231.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Thr317Ala",
"transcript": "ENST00000378460.7",
"protein_id": "ENSP00000367721.3",
"transcript_support_level": 1,
"aa_start": 317,
"aa_end": null,
"aa_length": 1402,
"cds_start": 949,
"cds_end": null,
"cds_length": 4209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015231.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378460.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Thr317Ala",
"transcript": "ENST00000935521.1",
"protein_id": "ENSP00000605580.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1449,
"cds_start": 949,
"cds_end": null,
"cds_length": 4350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935521.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Thr317Ala",
"transcript": "ENST00000863539.1",
"protein_id": "ENSP00000533598.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1442,
"cds_start": 949,
"cds_end": null,
"cds_length": 4329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863539.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Thr317Ala",
"transcript": "ENST00000863535.1",
"protein_id": "ENSP00000533594.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1441,
"cds_start": 949,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863535.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "c.1051A>G",
"hgvs_p": "p.Thr351Ala",
"transcript": "ENST00000694866.1",
"protein_id": "ENSP00000511549.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 1436,
"cds_start": 1051,
"cds_end": null,
"cds_length": 4311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000694866.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "c.1012A>G",
"hgvs_p": "p.Thr338Ala",
"transcript": "ENST00000935528.1",
"protein_id": "ENSP00000605587.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 1423,
"cds_start": 1012,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935528.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Thr317Ala",
"transcript": "ENST00000935520.1",
"protein_id": "ENSP00000605579.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1405,
"cds_start": 949,
"cds_end": null,
"cds_length": 4218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935520.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Thr317Ala",
"transcript": "ENST00000935523.1",
"protein_id": "ENSP00000605582.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1404,
"cds_start": 949,
"cds_end": null,
"cds_length": 4215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935523.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Thr317Ala",
"transcript": "ENST00000863536.1",
"protein_id": "ENSP00000533595.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1401,
"cds_start": 949,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863536.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Thr317Ala",
"transcript": "ENST00000935518.1",
"protein_id": "ENSP00000605577.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1401,
"cds_start": 949,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935518.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Thr317Ala",
"transcript": "ENST00000935526.1",
"protein_id": "ENSP00000605585.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1399,
"cds_start": 949,
"cds_end": null,
"cds_length": 4200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935526.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Thr317Ala",
"transcript": "ENST00000935530.1",
"protein_id": "ENSP00000605589.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1399,
"cds_start": 949,
"cds_end": null,
"cds_length": 4200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935530.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Thr317Ala",
"transcript": "ENST00000935524.1",
"protein_id": "ENSP00000605583.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1379,
"cds_start": 949,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935524.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Thr317Ala",
"transcript": "ENST00000935527.1",
"protein_id": "ENSP00000605586.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1369,
"cds_start": 949,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935527.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Thr317Ala",
"transcript": "ENST00000863538.1",
"protein_id": "ENSP00000533597.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1367,
"cds_start": 949,
"cds_end": null,
"cds_length": 4104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863538.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Thr317Ala",
"transcript": "ENST00000935519.1",
"protein_id": "ENSP00000605578.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1362,
"cds_start": 949,
"cds_end": null,
"cds_length": 4089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935519.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Thr317Ala",
"transcript": "ENST00000935525.1",
"protein_id": "ENSP00000605584.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1361,
"cds_start": 949,
"cds_end": null,
"cds_length": 4086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935525.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Thr317Ala",
"transcript": "ENST00000863537.1",
"protein_id": "ENSP00000533596.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1360,
"cds_start": 949,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863537.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Thr317Ala",
"transcript": "ENST00000935529.1",
"protein_id": "ENSP00000605588.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 1320,
"cds_start": 949,
"cds_end": null,
"cds_length": 3963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935529.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "c.943A>G",
"hgvs_p": "p.Thr315Ala",
"transcript": "ENST00000530326.5",
"protein_id": "ENSP00000433590.2",
"transcript_support_level": 5,
"aa_start": 315,
"aa_end": null,
"aa_length": 1313,
"cds_start": 943,
"cds_end": null,
"cds_length": 3942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530326.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Thr317Ala",
"transcript": "ENST00000528071.5",
"protein_id": "ENSP00000432367.3",
"transcript_support_level": 5,
"aa_start": 317,
"aa_end": null,
"aa_length": 1117,
"cds_start": 949,
"cds_end": null,
"cds_length": 3354,
"cdna_start": null,
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 4,
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"gene_symbol": "NUP160",
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"hgvs_c": "c.646+4142A>G",
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"transcript": "ENST00000935522.1",
"protein_id": "ENSP00000605581.1",
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"aa_end": null,
"aa_length": 555,
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"biotype": "protein_coding",
"feature": "ENST00000935522.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "NUP160",
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"hgvs_c": "n.*218A>G",
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"transcript": "ENST00000528501.5",
"protein_id": "ENSP00000433964.2",
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"biotype": "nonsense_mediated_decay",
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{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
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"exon_count": 36,
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"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "n.981A>G",
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"transcript": "NR_134636.3",
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"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"biotype": "pseudogene",
"feature": "NR_134636.3"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
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"exon_count": 16,
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"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"hgvs_c": "n.*218A>G",
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"transcript": "ENST00000528501.5",
"protein_id": "ENSP00000433964.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000528501.5"
}
],
"gene_symbol": "NUP160",
"gene_hgnc_id": 18017,
"dbsnp": "rs3816605",
"frequency_reference_population": 0.4316016,
"hom_count_reference_population": 155576,
"allele_count_reference_population": 691292,
"gnomad_exomes_af": 0.440245,
"gnomad_genomes_af": 0.349164,
"gnomad_exomes_ac": 638219,
"gnomad_genomes_ac": 53073,
"gnomad_exomes_homalt": 144854,
"gnomad_genomes_homalt": 10722,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0004342198371887207,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.081,
"revel_prediction": "Benign",
"alphamissense_score": 0.0537,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.707,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_015231.3",
"gene_symbol": "NUP160",
"hgnc_id": 18017,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.949A>G",
"hgvs_p": "p.Thr317Ala"
}
],
"clinvar_disease": " type 19,NUP160-related disorder,Nephrotic syndrome,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "NUP160-related disorder|not provided|Nephrotic syndrome, type 19",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}