← 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: 11-19713777-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=19713777&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 19713777,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_145117.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "NM_145117.5",
"protein_id": "NP_660093.2",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2429,
"cds_start": 82,
"cds_end": null,
"cds_length": 7290,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11492,
"mane_select": "ENST00000349880.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "ENST00000349880.9",
"protein_id": "ENSP00000309577.6",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 2429,
"cds_start": 82,
"cds_end": null,
"cds_length": 7290,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11492,
"mane_select": "NM_145117.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.76-118707C>T",
"hgvs_p": null,
"transcript": "ENST00000360655.8",
"protein_id": "ENSP00000353871.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2365,
"cds_start": -4,
"cds_end": null,
"cds_length": 7098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "NM_001244963.2",
"protein_id": "NP_001231892.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2488,
"cds_start": 82,
"cds_end": null,
"cds_length": 7467,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "ENST00000396087.7",
"protein_id": "ENSP00000379396.3",
"transcript_support_level": 5,
"aa_start": 28,
"aa_end": null,
"aa_length": 2488,
"cds_start": 82,
"cds_end": null,
"cds_length": 7467,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 7882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "NM_182964.6",
"protein_id": "NP_892009.3",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2432,
"cds_start": 82,
"cds_end": null,
"cds_length": 7299,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "ENST00000396085.6",
"protein_id": "ENSP00000379394.1",
"transcript_support_level": 5,
"aa_start": 28,
"aa_end": null,
"aa_length": 2432,
"cds_start": 82,
"cds_end": null,
"cds_length": 7299,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_011520444.4",
"protein_id": "XP_011518746.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2485,
"cds_start": 82,
"cds_end": null,
"cds_length": 7458,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_011520445.4",
"protein_id": "XP_011518747.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2466,
"cds_start": 82,
"cds_end": null,
"cds_length": 7401,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_006718364.5",
"protein_id": "XP_006718427.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2465,
"cds_start": 82,
"cds_end": null,
"cds_length": 7398,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_047427809.1",
"protein_id": "XP_047283765.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2463,
"cds_start": 82,
"cds_end": null,
"cds_length": 7392,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_047427810.1",
"protein_id": "XP_047283766.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2462,
"cds_start": 82,
"cds_end": null,
"cds_length": 7389,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_006718365.5",
"protein_id": "XP_006718428.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2455,
"cds_start": 82,
"cds_end": null,
"cds_length": 7368,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_011520446.4",
"protein_id": "XP_011518748.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2452,
"cds_start": 82,
"cds_end": null,
"cds_length": 7359,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_011520447.4",
"protein_id": "XP_011518749.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2451,
"cds_start": 82,
"cds_end": null,
"cds_length": 7356,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_047427811.1",
"protein_id": "XP_047283767.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2448,
"cds_start": 82,
"cds_end": null,
"cds_length": 7347,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_011520448.4",
"protein_id": "XP_011518750.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2445,
"cds_start": 82,
"cds_end": null,
"cds_length": 7338,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_047427812.1",
"protein_id": "XP_047283768.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2443,
"cds_start": 82,
"cds_end": null,
"cds_length": 7332,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_047427813.1",
"protein_id": "XP_047283769.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2440,
"cds_start": 82,
"cds_end": null,
"cds_length": 7323,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_047427814.1",
"protein_id": "XP_047283770.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2433,
"cds_start": 82,
"cds_end": null,
"cds_length": 7302,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_011520449.4",
"protein_id": "XP_011518751.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2430,
"cds_start": 82,
"cds_end": null,
"cds_length": 7293,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_047427815.1",
"protein_id": "XP_047283771.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2428,
"cds_start": 82,
"cds_end": null,
"cds_length": 7287,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_047427816.1",
"protein_id": "XP_047283772.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2425,
"cds_start": 82,
"cds_end": null,
"cds_length": 7278,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_047427817.1",
"protein_id": "XP_047283773.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2422,
"cds_start": 82,
"cds_end": null,
"cds_length": 7269,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_011520450.4",
"protein_id": "XP_011518752.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2418,
"cds_start": 82,
"cds_end": null,
"cds_length": 7257,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_017018521.3",
"protein_id": "XP_016874010.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2415,
"cds_start": 82,
"cds_end": null,
"cds_length": 7248,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_047427818.1",
"protein_id": "XP_047283774.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2410,
"cds_start": 82,
"cds_end": null,
"cds_length": 7233,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_047427819.1",
"protein_id": "XP_047283775.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2407,
"cds_start": 82,
"cds_end": null,
"cds_length": 7224,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_047427821.1",
"protein_id": "XP_047283777.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2395,
"cds_start": 82,
"cds_end": null,
"cds_length": 7188,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser",
"transcript": "XM_047427823.1",
"protein_id": "XP_047283779.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 2392,
"cds_start": 82,
"cds_end": null,
"cds_length": 7179,
"cdna_start": 941,
"cdna_end": null,
"cdna_length": 11381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LEISA1",
"gene_hgnc_id": 55264,
"hgvs_c": "n.896G>A",
"hgvs_p": null,
"transcript": "NR_015384.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.76-118707C>T",
"hgvs_p": null,
"transcript": "NM_001111018.2",
"protein_id": "NP_001104488.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2365,
"cds_start": -4,
"cds_end": null,
"cds_length": 7098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 42,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.76-118707C>T",
"hgvs_p": null,
"transcript": "XM_017018520.3",
"protein_id": "XP_016874009.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2424,
"cds_start": -4,
"cds_end": null,
"cds_length": 7275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 41,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.76-118707C>T",
"hgvs_p": null,
"transcript": "XM_024448758.2",
"protein_id": "XP_024304526.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2424,
"cds_start": -4,
"cds_end": null,
"cds_length": 7275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 41,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.76-118707C>T",
"hgvs_p": null,
"transcript": "XM_017018522.2",
"protein_id": "XP_016874011.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2401,
"cds_start": -4,
"cds_end": null,
"cds_length": 7206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 40,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.76-118707C>T",
"hgvs_p": null,
"transcript": "XM_047427820.1",
"protein_id": "XP_047283776.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2401,
"cds_start": -4,
"cds_end": null,
"cds_length": 7206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 40,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.76-118707C>T",
"hgvs_p": null,
"transcript": "XM_047427824.1",
"protein_id": "XP_047283780.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2388,
"cds_start": -4,
"cds_end": null,
"cds_length": 7167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 37,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.76-118707C>T",
"hgvs_p": null,
"transcript": "XM_047427825.1",
"protein_id": "XP_047283781.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2361,
"cds_start": -4,
"cds_end": null,
"cds_length": 7086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 41,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.-169+315C>T",
"hgvs_p": null,
"transcript": "XM_017018524.3",
"protein_id": "XP_016874013.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2343,
"cds_start": -4,
"cds_end": null,
"cds_length": 7032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.76-118707C>T",
"hgvs_p": null,
"transcript": "XM_047427828.1",
"protein_id": "XP_047283784.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2343,
"cds_start": -4,
"cds_end": null,
"cds_length": 7032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.76-118707C>T",
"hgvs_p": null,
"transcript": "XM_047427830.1",
"protein_id": "XP_047283786.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2331,
"cds_start": -4,
"cds_end": null,
"cds_length": 6996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 37,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.76-118707C>T",
"hgvs_p": null,
"transcript": "XM_047427831.1",
"protein_id": "XP_047283787.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2328,
"cds_start": -4,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 36,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.76-118707C>T",
"hgvs_p": null,
"transcript": "XM_047427833.1",
"protein_id": "XP_047283789.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2328,
"cds_start": -4,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"dbsnp": "rs1292653194",
"frequency_reference_population": 0.0000012402547,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84766e-7,
"gnomad_genomes_af": 0.00000656944,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17020174860954285,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.086,
"revel_prediction": "Benign",
"alphamissense_score": 0.1172,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.51,
"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_145117.5",
"gene_symbol": "NAV2",
"hgnc_id": 15997,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.82C>T",
"hgvs_p": "p.Pro28Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_015384.2",
"gene_symbol": "LEISA1",
"hgnc_id": 55264,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.896G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}