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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: 1-182806167-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=182806167&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 182806167,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_030769.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "c.165C>T",
"hgvs_p": "p.Gly55Gly",
"transcript": "NM_030769.3",
"protein_id": "NP_110396.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 320,
"cds_start": 165,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367553.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030769.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "c.165C>T",
"hgvs_p": "p.Gly55Gly",
"transcript": "ENST00000367553.6",
"protein_id": "ENSP00000356524.1",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 320,
"cds_start": 165,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_030769.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367553.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "c.165C>T",
"hgvs_p": "p.Gly55Gly",
"transcript": "ENST00000258317.6",
"protein_id": "ENSP00000258317.2",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 320,
"cds_start": 165,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258317.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "c.165C>T",
"hgvs_p": "p.Gly55Gly",
"transcript": "ENST00000367552.6",
"protein_id": "ENSP00000356523.2",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 240,
"cds_start": 165,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367552.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "c.165C>T",
"hgvs_p": "p.Gly55Gly",
"transcript": "ENST00000367555.5",
"protein_id": "ENSP00000356526.1",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 240,
"cds_start": 165,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367555.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "c.-192C>T",
"hgvs_p": null,
"transcript": "ENST00000367554.7",
"protein_id": "ENSP00000356525.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 301,
"cds_start": null,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367554.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "n.305C>T",
"hgvs_p": null,
"transcript": "ENST00000463899.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000463899.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "n.749C>T",
"hgvs_p": null,
"transcript": "ENST00000488424.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000488424.5"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "c.91C>T",
"hgvs_p": "p.Pro31Ser",
"transcript": "ENST00000949078.1",
"protein_id": "ENSP00000619137.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 276,
"cds_start": 91,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949078.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Gly92Gly",
"transcript": "ENST00000879498.1",
"protein_id": "ENSP00000549557.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 357,
"cds_start": 276,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879498.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Gly92Gly",
"transcript": "ENST00000879503.1",
"protein_id": "ENSP00000549562.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 357,
"cds_start": 276,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879503.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Gly92Gly",
"transcript": "ENST00000879505.1",
"protein_id": "ENSP00000549564.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 357,
"cds_start": 276,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879505.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Gly92Gly",
"transcript": "ENST00000879515.1",
"protein_id": "ENSP00000549574.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 357,
"cds_start": 276,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879515.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Gly92Gly",
"transcript": "ENST00000949075.1",
"protein_id": "ENSP00000619134.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 357,
"cds_start": 276,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949075.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Gly92Gly",
"transcript": "ENST00000949076.1",
"protein_id": "ENSP00000619135.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 357,
"cds_start": 276,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949076.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Gly92Gly",
"transcript": "ENST00000949079.1",
"protein_id": "ENSP00000619138.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 357,
"cds_start": 276,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949079.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Gly92Gly",
"transcript": "ENST00000949080.1",
"protein_id": "ENSP00000619139.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 357,
"cds_start": 276,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949080.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Gly92Gly",
"transcript": "ENST00000949081.1",
"protein_id": "ENSP00000619140.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 357,
"cds_start": 276,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949081.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "c.276C>T",
"hgvs_p": "p.Gly92Gly",
"transcript": "ENST00000949082.1",
"protein_id": "ENSP00000619141.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 357,
"cds_start": 276,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949082.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Gly87Gly",
"transcript": "ENST00000879518.1",
"protein_id": "ENSP00000549577.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 352,
"cds_start": 261,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879518.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "c.165C>T",
"hgvs_p": "p.Gly55Gly",
"transcript": "ENST00000879511.1",
"protein_id": "ENSP00000549570.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 321,
"cds_start": 165,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879511.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "c.165C>T",
"hgvs_p": "p.Gly55Gly",
"transcript": "ENST00000879499.1",
"protein_id": "ENSP00000549558.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 320,
"cds_start": 165,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000879499.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"hgvs_c": "c.69-5989C>T",
"hgvs_p": null,
"transcript": "ENST00000949073.1",
"protein_id": "ENSP00000619132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": null,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949073.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "n.704C>T",
"hgvs_p": null,
"transcript": "ENST00000460690.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000460690.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "n.153C>T",
"hgvs_p": null,
"transcript": "ENST00000471010.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000471010.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"hgvs_c": "n.352C>T",
"hgvs_p": null,
"transcript": "ENST00000479721.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000479721.5"
}
],
"gene_symbol": "NPL",
"gene_hgnc_id": 16781,
"dbsnp": "rs776456114",
"frequency_reference_population": 0.000014868893,
"hom_count_reference_population": 0,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000157331,
"gnomad_genomes_af": 0.00000656935,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.36000001430511475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.122,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_030769.3",
"gene_symbol": "NPL",
"hgnc_id": 16781,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.165C>T",
"hgvs_p": "p.Gly55Gly"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}