← 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: 4-163351551-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=163351551&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "NPY5R",
"hgnc_id": 7958,
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_006174.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 1507,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_006174.4",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000338566.8",
"protein_coding": true,
"protein_id": "NP_006165.1",
"strand": true,
"transcript": "NM_006174.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 1507,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000338566.8",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006174.4",
"protein_coding": true,
"protein_id": "ENSP00000339377.3",
"strand": true,
"transcript": "ENST00000338566.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3183,
"cdna_start": 2800,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001317091.2",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304020.1",
"strand": true,
"transcript": "NM_001317091.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2018,
"cdna_start": 1635,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001317092.2",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304021.1",
"strand": true,
"transcript": "NM_001317092.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1418,
"cdna_start": 1333,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000506953.1",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423474.1",
"strand": true,
"transcript": "ENST00000506953.1",
"transcript_support_level": 6
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3183,
"cdna_start": 2800,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000515560.1",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423917.1",
"strand": true,
"transcript": "ENST00000515560.1",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901845.1",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571904.1",
"strand": true,
"transcript": "ENST00000901845.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4422,
"cdna_start": 3697,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000919917.1",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589976.1",
"strand": true,
"transcript": "ENST00000919917.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2480,
"cdna_start": 1628,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000919918.1",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589977.1",
"strand": true,
"transcript": "ENST00000919918.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": 1607,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000919919.1",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589978.1",
"strand": true,
"transcript": "ENST00000919919.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4180,
"cdna_start": 3328,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000919920.1",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589979.1",
"strand": true,
"transcript": "ENST00000919920.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2400,
"cdna_start": 1548,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000919921.1",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589980.1",
"strand": true,
"transcript": "ENST00000919921.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2460,
"cdna_start": 1610,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000919922.1",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589981.1",
"strand": true,
"transcript": "ENST00000919922.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2493,
"cdna_start": 1647,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000919923.1",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589982.1",
"strand": true,
"transcript": "ENST00000919923.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 1503,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000919924.1",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589983.1",
"strand": true,
"transcript": "ENST00000919924.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2305,
"cdna_start": 1524,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000919925.1",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589984.1",
"strand": true,
"transcript": "ENST00000919925.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": 1473,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000919926.1",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589985.1",
"strand": true,
"transcript": "ENST00000919926.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": 1523,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000967945.1",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638004.1",
"strand": true,
"transcript": "ENST00000967945.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1839,
"cdna_start": 1453,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000967946.1",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638005.1",
"strand": true,
"transcript": "ENST00000967946.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2276,
"cdna_start": 1550,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000967947.1",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638006.1",
"strand": true,
"transcript": "ENST00000967947.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000967948.1",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638007.1",
"strand": true,
"transcript": "ENST00000967948.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 452,
"aa_ref": "G",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1930,
"cdna_start": 1547,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1299,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011532015.3",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1299G>T",
"hgvs_p": "p.Gly433Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011530317.1",
"strand": true,
"transcript": "XM_011532015.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 452,
"aa_ref": "G",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1840,
"cdna_start": 1457,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1299,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017008255.2",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1299G>T",
"hgvs_p": "p.Gly433Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863744.1",
"strand": true,
"transcript": "XM_017008255.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 452,
"aa_ref": "G",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": 1675,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1299,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017008256.2",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1299G>T",
"hgvs_p": "p.Gly433Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016863745.1",
"strand": true,
"transcript": "XM_017008256.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 452,
"aa_ref": "G",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3351,
"cdna_start": 2968,
"cds_end": null,
"cds_length": 1359,
"cds_start": 1299,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047415745.1",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1299G>T",
"hgvs_p": "p.Gly433Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047271701.1",
"strand": true,
"transcript": "XM_047415745.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2362,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005263038.4",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005263095.1",
"strand": true,
"transcript": "XM_005263038.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2490,
"cdna_start": 1638,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011532017.3",
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"hgvs_c": "c.1278G>T",
"hgvs_p": "p.Gly426Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011530319.1",
"strand": true,
"transcript": "XM_011532017.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs11946004",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0000027457102,
"gene_hgnc_id": 7958,
"gene_symbol": "NPY5R",
"gnomad_exomes_ac": 4,
"gnomad_exomes_af": 0.00000274571,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.733,
"pos": 163351551,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_006174.4"
}
]
}