← 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: 1-182818662-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=182818662&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "NPL",
"hgnc_id": 16781,
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gln193Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_030769.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 4541,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.6,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6000000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 320,
"aa_ref": "Q",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2543,
"cdna_start": 683,
"cds_end": null,
"cds_length": 963,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_030769.3",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gln193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367553.6",
"protein_coding": true,
"protein_id": "NP_110396.1",
"strand": true,
"transcript": "NM_030769.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 320,
"aa_ref": "Q",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2543,
"cdna_start": 683,
"cds_end": null,
"cds_length": 963,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000367553.6",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gln193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030769.3",
"protein_coding": true,
"protein_id": "ENSP00000356524.1",
"strand": true,
"transcript": "ENST00000367553.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 320,
"aa_ref": "Q",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2461,
"cdna_start": 601,
"cds_end": null,
"cds_length": 963,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000258317.6",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gln193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000258317.2",
"strand": true,
"transcript": "ENST00000258317.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 301,
"aa_ref": "Q",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3027,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 906,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000367554.7",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Gln174Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356525.3",
"strand": true,
"transcript": "ENST00000367554.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 240,
"aa_ref": "Q",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 745,
"cdna_start": 601,
"cds_end": null,
"cds_length": 723,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000367552.6",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gln193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356523.2",
"strand": true,
"transcript": "ENST00000367552.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 240,
"aa_ref": "Q",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1536,
"cdna_start": 687,
"cds_end": null,
"cds_length": 723,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000367555.5",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gln193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356526.1",
"strand": true,
"transcript": "ENST00000367555.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2369,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000463899.5",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "n.970G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000463899.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2144,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000488424.5",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "n.1163G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000488424.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 357,
"aa_ref": "Q",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3386,
"cdna_start": 893,
"cds_end": null,
"cds_length": 1074,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000879498.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Gln230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549557.1",
"strand": true,
"transcript": "ENST00000879498.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 357,
"aa_ref": "Q",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2823,
"cdna_start": 963,
"cds_end": null,
"cds_length": 1074,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000879503.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Gln230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549562.1",
"strand": true,
"transcript": "ENST00000879503.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 357,
"aa_ref": "Q",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2696,
"cdna_start": 835,
"cds_end": null,
"cds_length": 1074,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879505.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Gln230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549564.1",
"strand": true,
"transcript": "ENST00000879505.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 357,
"aa_ref": "Q",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": 896,
"cds_end": null,
"cds_length": 1074,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000879515.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Gln230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549574.1",
"strand": true,
"transcript": "ENST00000879515.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 357,
"aa_ref": "Q",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2778,
"cdna_start": 920,
"cds_end": null,
"cds_length": 1074,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000949075.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Gln230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619134.1",
"strand": true,
"transcript": "ENST00000949075.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 357,
"aa_ref": "Q",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": 877,
"cds_end": null,
"cds_length": 1074,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000949076.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Gln230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619135.1",
"strand": true,
"transcript": "ENST00000949076.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 357,
"aa_ref": "Q",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4819,
"cdna_start": 3215,
"cds_end": null,
"cds_length": 1074,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000949079.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Gln230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619138.1",
"strand": true,
"transcript": "ENST00000949079.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 357,
"aa_ref": "Q",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": 739,
"cds_end": null,
"cds_length": 1074,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000949080.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Gln230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619139.1",
"strand": true,
"transcript": "ENST00000949080.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 357,
"aa_ref": "Q",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1797,
"cdna_start": 892,
"cds_end": null,
"cds_length": 1074,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000949081.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Gln230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619140.1",
"strand": true,
"transcript": "ENST00000949081.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 357,
"aa_ref": "Q",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3458,
"cdna_start": 2956,
"cds_end": null,
"cds_length": 1074,
"cds_start": 690,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000949082.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.690G>A",
"hgvs_p": "p.Gln230Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619141.1",
"strand": true,
"transcript": "ENST00000949082.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 352,
"aa_ref": "Q",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1381,
"cdna_start": 878,
"cds_end": null,
"cds_length": 1059,
"cds_start": 675,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000879518.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.675G>A",
"hgvs_p": "p.Gln225Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549577.1",
"strand": true,
"transcript": "ENST00000879518.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 321,
"aa_ref": "Q",
"aa_start": 194,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2390,
"cdna_start": 785,
"cds_end": null,
"cds_length": 966,
"cds_start": 582,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879511.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.582G>A",
"hgvs_p": "p.Gln194Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549570.1",
"strand": true,
"transcript": "ENST00000879511.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 320,
"aa_ref": "Q",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3228,
"cdna_start": 786,
"cds_end": null,
"cds_length": 963,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879499.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gln193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549558.1",
"strand": true,
"transcript": "ENST00000879499.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 320,
"aa_ref": "Q",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2731,
"cdna_start": 869,
"cds_end": null,
"cds_length": 963,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000879501.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gln193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549560.1",
"strand": true,
"transcript": "ENST00000879501.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 320,
"aa_ref": "Q",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2492,
"cdna_start": 632,
"cds_end": null,
"cds_length": 963,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879502.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gln193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549561.1",
"strand": true,
"transcript": "ENST00000879502.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 320,
"aa_ref": "Q",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2345,
"cdna_start": 727,
"cds_end": null,
"cds_length": 963,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879507.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gln193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549566.1",
"strand": true,
"transcript": "ENST00000879507.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 320,
"aa_ref": "Q",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4717,
"cdna_start": 3106,
"cds_end": null,
"cds_length": 963,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879508.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gln193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549567.1",
"strand": true,
"transcript": "ENST00000879508.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 320,
"aa_ref": "Q",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2391,
"cdna_start": 783,
"cds_end": null,
"cds_length": 963,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879510.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gln193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549569.1",
"strand": true,
"transcript": "ENST00000879510.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 320,
"aa_ref": "Q",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2391,
"cdna_start": 788,
"cds_end": null,
"cds_length": 963,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000879513.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gln193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549572.1",
"strand": true,
"transcript": "ENST00000879513.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 320,
"aa_ref": "Q",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": 887,
"cds_end": null,
"cds_length": 963,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000913310.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gln193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583369.1",
"strand": true,
"transcript": "ENST00000913310.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 301,
"aa_ref": "Q",
"aa_start": 174,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2703,
"cdna_start": 843,
"cds_end": null,
"cds_length": 906,
"cds_start": 522,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001200050.2",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.522G>A",
"hgvs_p": "p.Gln174Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186979.1",
"strand": true,
"transcript": "NM_001200050.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 284,
"aa_ref": "Q",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1664,
"cdna_start": 683,
"cds_end": null,
"cds_length": 855,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001200056.2",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gln193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186985.1",
"strand": true,
"transcript": "NM_001200056.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 276,
"aa_ref": "Q",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2966,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 831,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879500.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gln193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549559.1",
"strand": true,
"transcript": "ENST00000879500.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 276,
"aa_ref": "Q",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2508,
"cdna_start": 782,
"cds_end": null,
"cds_length": 831,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000879504.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gln193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549563.1",
"strand": true,
"transcript": "ENST00000879504.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 276,
"aa_ref": "Q",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1402,
"cdna_start": 628,
"cds_end": null,
"cds_length": 831,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879517.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gln193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549576.1",
"strand": true,
"transcript": "ENST00000879517.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 276,
"aa_ref": "Q",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4834,
"cdna_start": 3107,
"cds_end": null,
"cds_length": 831,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000949074.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gln193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619133.1",
"strand": true,
"transcript": "ENST00000949074.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 276,
"aa_ref": "Q",
"aa_start": 149,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2153,
"cdna_start": 548,
"cds_end": null,
"cds_length": 831,
"cds_start": 447,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000949078.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.447G>A",
"hgvs_p": "p.Gln149Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619137.1",
"strand": true,
"transcript": "ENST00000949078.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 266,
"aa_ref": "Q",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2423,
"cdna_start": 565,
"cds_end": null,
"cds_length": 801,
"cds_start": 417,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000879506.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.417G>A",
"hgvs_p": "p.Gln139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549565.1",
"strand": true,
"transcript": "ENST00000879506.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 266,
"aa_ref": "Q",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2225,
"cdna_start": 620,
"cds_end": null,
"cds_length": 801,
"cds_start": 417,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000879512.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.417G>A",
"hgvs_p": "p.Gln139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549571.1",
"strand": true,
"transcript": "ENST00000879512.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 266,
"aa_ref": "Q",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2119,
"cdna_start": 521,
"cds_end": null,
"cds_length": 801,
"cds_start": 417,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000879514.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.417G>A",
"hgvs_p": "p.Gln139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549573.1",
"strand": true,
"transcript": "ENST00000879514.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 266,
"aa_ref": "Q",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2182,
"cdna_start": 601,
"cds_end": null,
"cds_length": 801,
"cds_start": 417,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000879516.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.417G>A",
"hgvs_p": "p.Gln139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549575.1",
"strand": true,
"transcript": "ENST00000879516.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 240,
"aa_ref": "Q",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1532,
"cdna_start": 683,
"cds_end": null,
"cds_length": 723,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001200051.2",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gln193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186980.1",
"strand": true,
"transcript": "NM_001200051.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 230,
"aa_ref": "Q",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2458,
"cdna_start": 683,
"cds_end": null,
"cds_length": 693,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001200052.2",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gln193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186981.1",
"strand": true,
"transcript": "NM_001200052.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 230,
"aa_ref": "Q",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2376,
"cdna_start": 601,
"cds_end": null,
"cds_length": 693,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000614468.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Gln193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482415.1",
"strand": true,
"transcript": "ENST00000614468.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 242,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2055,
"cdna_start": null,
"cds_end": null,
"cds_length": 729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879509.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.458-151G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549568.1",
"strand": true,
"transcript": "ENST00000879509.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 242,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1045,
"cdna_start": null,
"cds_end": null,
"cds_length": 729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879519.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.458-151G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549578.1",
"strand": true,
"transcript": "ENST00000879519.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 242,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2255,
"cdna_start": null,
"cds_end": null,
"cds_length": 729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949077.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.458-151G>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619136.1",
"strand": true,
"transcript": "ENST00000949077.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 188,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2145,
"cdna_start": null,
"cds_end": null,
"cds_length": 567,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949073.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "c.296-151G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619132.1",
"strand": true,
"transcript": "ENST00000949073.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 359,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000460179.1",
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"hgvs_c": "n.25G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000460179.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs58343016",
"effect": "synonymous_variant",
"frequency_reference_population": 0.002813179,
"gene_hgnc_id": 16781,
"gene_symbol": "NPL",
"gnomad_exomes_ac": 2216,
"gnomad_exomes_af": 0.00151586,
"gnomad_exomes_homalt": 55,
"gnomad_genomes_ac": 2325,
"gnomad_genomes_af": 0.0152651,
"gnomad_genomes_homalt": 69,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 124,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.035,
"pos": 182818662,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_030769.3"
}
]
}