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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: 14-73171023-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=73171023&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 73171023,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000324501.10",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "c.314T>G",
"hgvs_p": "p.Phe105Cys",
"transcript": "NM_000021.4",
"protein_id": "NP_000012.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 467,
"cds_start": 314,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 6018,
"mane_select": "ENST00000324501.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "c.314T>G",
"hgvs_p": "p.Phe105Cys",
"transcript": "ENST00000324501.10",
"protein_id": "ENSP00000326366.5",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 467,
"cds_start": 314,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 6018,
"mane_select": "NM_000021.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "c.302T>G",
"hgvs_p": "p.Phe101Cys",
"transcript": "ENST00000357710.8",
"protein_id": "ENSP00000350342.4",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 463,
"cds_start": 302,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "c.302T>G",
"hgvs_p": "p.Phe101Cys",
"transcript": "ENST00000394164.5",
"protein_id": "ENSP00000377719.1",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 463,
"cds_start": 302,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 3046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "n.314T>G",
"hgvs_p": null,
"transcript": "ENST00000553855.5",
"protein_id": "ENSP00000452242.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "n.302T>G",
"hgvs_p": null,
"transcript": "ENST00000555386.6",
"protein_id": "ENSP00000450845.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "c.314T>G",
"hgvs_p": "p.Phe105Cys",
"transcript": "ENST00000700320.1",
"protein_id": "ENSP00000514947.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 476,
"cds_start": 314,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 526,
"cdna_end": null,
"cdna_length": 6034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "c.314T>G",
"hgvs_p": "p.Phe105Cys",
"transcript": "ENST00000554131.6",
"protein_id": "ENSP00000451915.2",
"transcript_support_level": 3,
"aa_start": 105,
"aa_end": null,
"aa_length": 467,
"cds_start": 314,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 6064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "c.314T>G",
"hgvs_p": "p.Phe105Cys",
"transcript": "ENST00000700267.1",
"protein_id": "ENSP00000514903.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 467,
"cds_start": 314,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 5957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "c.314T>G",
"hgvs_p": "p.Phe105Cys",
"transcript": "ENST00000700268.1",
"protein_id": "ENSP00000514904.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 467,
"cds_start": 314,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 6076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "c.314T>G",
"hgvs_p": "p.Phe105Cys",
"transcript": "ENST00000700269.1",
"protein_id": "ENSP00000514905.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 467,
"cds_start": 314,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 6116,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "c.314T>G",
"hgvs_p": "p.Phe105Cys",
"transcript": "ENST00000700306.1",
"protein_id": "ENSP00000514933.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 467,
"cds_start": 314,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 603,
"cdna_end": null,
"cdna_length": 6089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "c.314T>G",
"hgvs_p": "p.Phe105Cys",
"transcript": "ENST00000700317.1",
"protein_id": "ENSP00000514944.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 467,
"cds_start": 314,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 5975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "c.314T>G",
"hgvs_p": "p.Phe105Cys",
"transcript": "ENST00000700321.1",
"protein_id": "ENSP00000514948.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 467,
"cds_start": 314,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 6014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "c.314T>G",
"hgvs_p": "p.Phe105Cys",
"transcript": "ENST00000700323.1",
"protein_id": "ENSP00000514950.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 467,
"cds_start": 314,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 6056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "c.314T>G",
"hgvs_p": "p.Phe105Cys",
"transcript": "ENST00000700375.1",
"protein_id": "ENSP00000514966.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 467,
"cds_start": 314,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 6075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "c.314T>G",
"hgvs_p": "p.Phe105Cys",
"transcript": "ENST00000700378.1",
"protein_id": "ENSP00000514968.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 467,
"cds_start": 314,
"cds_end": null,
"cds_length": 1404,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 6396,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "c.302T>G",
"hgvs_p": "p.Phe101Cys",
"transcript": "NM_007318.3",
"protein_id": "NP_015557.2",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 463,
"cds_start": 302,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 514,
"cdna_end": null,
"cdna_length": 6006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "c.302T>G",
"hgvs_p": "p.Phe101Cys",
"transcript": "ENST00000553599.6",
"protein_id": "ENSP00000452477.2",
"transcript_support_level": 4,
"aa_start": 101,
"aa_end": null,
"aa_length": 463,
"cds_start": 302,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 6099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "c.302T>G",
"hgvs_p": "p.Phe101Cys",
"transcript": "ENST00000556951.6",
"protein_id": "ENSP00000450551.2",
"transcript_support_level": 2,
"aa_start": 101,
"aa_end": null,
"aa_length": 463,
"cds_start": 302,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 6062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "c.302T>G",
"hgvs_p": "p.Phe101Cys",
"transcript": "ENST00000700265.1",
"protein_id": "ENSP00000514901.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 463,
"cds_start": 302,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 5911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "c.302T>G",
"hgvs_p": "p.Phe101Cys",
"transcript": "ENST00000700273.1",
"protein_id": "ENSP00000514908.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 463,
"cds_start": 302,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 6091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"hgvs_c": "c.302T>G",
"hgvs_p": "p.Phe101Cys",
"transcript": "ENST00000700313.1",
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},
{
"aa_ref": null,
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"downstream_gene_variant"
],
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"exon_count": 4,
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},
{
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],
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"exon_count": 5,
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"gene_symbol": "PSEN1",
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"transcript": "ENST00000556864.5",
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},
{
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"downstream_gene_variant"
],
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"gene_symbol": "PSEN1",
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"hgvs_c": "c.*114T>G",
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"transcript": "ENST00000557037.5",
"protein_id": "ENSP00000451347.1",
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}
],
"gene_symbol": "PSEN1",
"gene_hgnc_id": 9508,
"dbsnp": "rs1057518919",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9528034329414368,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.981,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9764,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.52,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.239,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000324501.10",
"gene_symbol": "PSEN1",
"hgnc_id": 9508,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.314T>G",
"hgvs_p": "p.Phe105Cys"
}
],
"clinvar_disease": "Dementia,Mental deterioration",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Mental deterioration;Dementia",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}