← Back to variant description
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: 3-161235138-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=161235138&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 161235138,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001320227.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Thr168Ile",
"transcript": "NM_015938.5",
"protein_id": "NP_057022.2",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 503,
"cds_start": 503,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000351193.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015938.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Thr168Ile",
"transcript": "ENST00000351193.7",
"protein_id": "ENSP00000307525.2",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 503,
"cds_start": 503,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015938.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351193.7"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Thr168Ile",
"transcript": "ENST00000472947.5",
"protein_id": "ENSP00000417559.1",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 529,
"cds_start": 503,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472947.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Thr168Ile",
"transcript": "ENST00000460469.1",
"protein_id": "ENSP00000419004.1",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 503,
"cds_start": 503,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460469.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Thr168Ile",
"transcript": "NM_001320227.2",
"protein_id": "NP_001307156.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 529,
"cds_start": 503,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320227.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Thr168Ile",
"transcript": "ENST00000878752.1",
"protein_id": "ENSP00000548811.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 503,
"cds_start": 503,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878752.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Thr168Ile",
"transcript": "ENST00000917142.1",
"protein_id": "ENSP00000587201.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 503,
"cds_start": 503,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917142.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Thr168Ile",
"transcript": "ENST00000945532.1",
"protein_id": "ENSP00000615591.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 503,
"cds_start": 503,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945532.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Thr168Ile",
"transcript": "ENST00000945533.1",
"protein_id": "ENSP00000615592.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 503,
"cds_start": 503,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945533.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Thr168Ile",
"transcript": "ENST00000878756.1",
"protein_id": "ENSP00000548815.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 502,
"cds_start": 503,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878756.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Thr141Ile",
"transcript": "ENST00000878753.1",
"protein_id": "ENSP00000548812.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 476,
"cds_start": 422,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878753.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Thr141Ile",
"transcript": "ENST00000878759.1",
"protein_id": "ENSP00000548818.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 476,
"cds_start": 422,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878759.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Thr141Ile",
"transcript": "ENST00000878760.1",
"protein_id": "ENSP00000548819.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 476,
"cds_start": 422,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878760.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.422C>T",
"hgvs_p": "p.Thr141Ile",
"transcript": "ENST00000945537.1",
"protein_id": "ENSP00000615596.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 476,
"cds_start": 422,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945537.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"transcript": "ENST00000878755.1",
"protein_id": "ENSP00000548814.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 460,
"cds_start": 374,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878755.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.374C>T",
"hgvs_p": "p.Thr125Ile",
"transcript": "ENST00000945534.1",
"protein_id": "ENSP00000615593.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 460,
"cds_start": 374,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945534.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Thr168Ile",
"transcript": "ENST00000917141.1",
"protein_id": "ENSP00000587200.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 441,
"cds_start": 503,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917141.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Thr168Ile",
"transcript": "ENST00000463518.5",
"protein_id": "ENSP00000418908.1",
"transcript_support_level": 5,
"aa_start": 168,
"aa_end": null,
"aa_length": 217,
"cds_start": 503,
"cds_end": null,
"cds_length": 656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463518.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Thr168Ile",
"transcript": "ENST00000493066.5",
"protein_id": "ENSP00000419030.1",
"transcript_support_level": 3,
"aa_start": 168,
"aa_end": null,
"aa_length": 217,
"cds_start": 503,
"cds_end": null,
"cds_length": 656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493066.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Thr168Ile",
"transcript": "XM_005247511.3",
"protein_id": "XP_005247568.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 503,
"cds_start": 503,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247511.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Thr168Ile",
"transcript": "XM_005247512.2",
"protein_id": "XP_005247569.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 503,
"cds_start": 503,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247512.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.487-20C>T",
"hgvs_p": null,
"transcript": "ENST00000878757.1",
"protein_id": "ENSP00000548816.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 491,
"cds_start": null,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878757.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.487-20C>T",
"hgvs_p": null,
"transcript": "ENST00000945536.1",
"protein_id": "ENSP00000615595.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 491,
"cds_start": null,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945536.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.487-47C>T",
"hgvs_p": null,
"transcript": "ENST00000878754.1",
"protein_id": "ENSP00000548813.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 482,
"cds_start": null,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878754.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.357+1659C>T",
"hgvs_p": null,
"transcript": "ENST00000945535.1",
"protein_id": "ENSP00000615594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": null,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945535.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "c.357+1659C>T",
"hgvs_p": null,
"transcript": "ENST00000878758.1",
"protein_id": "ENSP00000548817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 283,
"cds_start": null,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878758.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "n.413C>T",
"hgvs_p": null,
"transcript": "ENST00000478160.1",
"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": "ENST00000478160.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "n.622C>T",
"hgvs_p": null,
"transcript": "XR_007095682.1",
"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_007095682.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"hgvs_c": "n.*233C>T",
"hgvs_p": null,
"transcript": "ENST00000473909.5",
"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": "ENST00000473909.5"
}
],
"gene_symbol": "NMD3",
"gene_hgnc_id": 24250,
"dbsnp": "rs193920996",
"frequency_reference_population": 0.0000014598156,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000145982,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9672355651855469,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.12999999523162842,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.496,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9879,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.361,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.13,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001320227.2",
"gene_symbol": "NMD3",
"hgnc_id": 24250,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Thr168Ile"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}