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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 4-163350469-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=163350469&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 163350469,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006174.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "NM_006174.4",
"protein_id": "NP_006165.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 445,
"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338566.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006174.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "ENST00000338566.8",
"protein_id": "ENSP00000339377.3",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 445,
"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006174.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338566.8"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "NM_001317091.2",
"protein_id": "NP_001304020.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 445,
"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317091.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "NM_001317092.2",
"protein_id": "NP_001304021.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 445,
"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317092.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "ENST00000506953.1",
"protein_id": "ENSP00000423474.1",
"transcript_support_level": 6,
"aa_start": 66,
"aa_end": null,
"aa_length": 445,
"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506953.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "ENST00000515560.1",
"protein_id": "ENSP00000423917.1",
"transcript_support_level": 2,
"aa_start": 66,
"aa_end": null,
"aa_length": 445,
"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515560.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "ENST00000901845.1",
"protein_id": "ENSP00000571904.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 445,
"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901845.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "ENST00000919917.1",
"protein_id": "ENSP00000589976.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 445,
"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919917.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "ENST00000919918.1",
"protein_id": "ENSP00000589977.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 445,
"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919918.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "ENST00000919919.1",
"protein_id": "ENSP00000589978.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 445,
"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919919.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "ENST00000919920.1",
"protein_id": "ENSP00000589979.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 445,
"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919920.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "ENST00000919921.1",
"protein_id": "ENSP00000589980.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 445,
"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919921.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "ENST00000919922.1",
"protein_id": "ENSP00000589981.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 445,
"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919922.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "ENST00000919923.1",
"protein_id": "ENSP00000589982.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 445,
"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919923.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "ENST00000919924.1",
"protein_id": "ENSP00000589983.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 445,
"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919924.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "ENST00000919925.1",
"protein_id": "ENSP00000589984.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 445,
"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919925.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "ENST00000919926.1",
"protein_id": "ENSP00000589985.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 445,
"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919926.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "ENST00000967945.1",
"protein_id": "ENSP00000638004.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 445,
"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967945.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "ENST00000967946.1",
"protein_id": "ENSP00000638005.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 445,
"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967946.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "ENST00000967947.1",
"protein_id": "ENSP00000638006.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 445,
"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967947.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "ENST00000967948.1",
"protein_id": "ENSP00000638007.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 445,
"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967948.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Leu73Val",
"transcript": "XM_011532015.3",
"protein_id": "XP_011530317.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 452,
"cds_start": 217,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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"protein_coding": true,
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"gene_symbol": "NPY5R",
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},
{
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"strand": true,
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],
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"gene_symbol": "NPY5R",
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"transcript": "XM_017008256.2",
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"feature": "XM_017008256.2"
},
{
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"protein_coding": true,
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],
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"gene_symbol": "NPY5R",
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"feature": "XM_047415745.1"
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{
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],
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"exon_count": 4,
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"gene_symbol": "NPY5R",
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"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "XM_005263038.4",
"protein_id": "XP_005263095.1",
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"biotype": "protein_coding",
"feature": "XM_005263038.4"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
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"exon_count": 5,
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"gene_symbol": "NPY5R",
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"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val",
"transcript": "XM_011532017.3",
"protein_id": "XP_011530319.1",
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"cds_start": 196,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011532017.3"
}
],
"gene_symbol": "NPY5R",
"gene_hgnc_id": 7958,
"dbsnp": "rs372200526",
"frequency_reference_population": 0.0000018589687,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136827,
"gnomad_genomes_af": 0.00000657462,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10032239556312561,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.136,
"revel_prediction": "Benign",
"alphamissense_score": 0.077,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.05,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 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_006174.4",
"gene_symbol": "NPY5R",
"hgnc_id": 7958,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.196C>G",
"hgvs_p": "p.Leu66Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}