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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: 5-80438867-G-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=80438867&ref=G&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 80438867,
"ref": "G",
"alt": "GA",
"effect": "frameshift_variant",
"transcript": "ENST00000505560.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.2186dupA",
"hgvs_p": "p.Asn729fs",
"transcript": "NM_001284236.3",
"protein_id": "NP_001271165.2",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 1539,
"cds_start": 2187,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 2370,
"cdna_end": null,
"cdna_length": 10805,
"mane_select": "ENST00000505560.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.2186dupA",
"hgvs_p": "p.Asn729fs",
"transcript": "ENST00000505560.5",
"protein_id": "ENSP00000426848.1",
"transcript_support_level": 1,
"aa_start": 729,
"aa_end": null,
"aa_length": 1539,
"cds_start": 2187,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 2370,
"cdna_end": null,
"cdna_length": 10805,
"mane_select": "NM_001284236.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.2186dupA",
"hgvs_p": "p.Asn729fs",
"transcript": "ENST00000338008.9",
"protein_id": "ENSP00000337159.5",
"transcript_support_level": 1,
"aa_start": 729,
"aa_end": null,
"aa_length": 1539,
"cds_start": 2187,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 2367,
"cdna_end": null,
"cdna_length": 6773,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.2186dupA",
"hgvs_p": "p.Asn729fs",
"transcript": "ENST00000510158.5",
"protein_id": "ENSP00000423663.1",
"transcript_support_level": 1,
"aa_start": 729,
"aa_end": null,
"aa_length": 1539,
"cds_start": 2187,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 2484,
"cdna_end": null,
"cdna_length": 6680,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "n.2296dupA",
"hgvs_p": null,
"transcript": "ENST00000510995.1",
"protein_id": null,
"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": 2873,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.2186dupA",
"hgvs_p": "p.Asn729fs",
"transcript": "NM_001105251.4",
"protein_id": "NP_001098721.2",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 1539,
"cds_start": 2187,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 2444,
"cdna_end": null,
"cdna_length": 10879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.2186dupA",
"hgvs_p": "p.Asn729fs",
"transcript": "NM_001349434.2",
"protein_id": "NP_001336363.2",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 1539,
"cds_start": 2187,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 2366,
"cdna_end": null,
"cdna_length": 10801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.2186dupA",
"hgvs_p": "p.Asn729fs",
"transcript": "NM_014733.6",
"protein_id": "NP_055548.4",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 1539,
"cds_start": 2187,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 2316,
"cdna_end": null,
"cdna_length": 10751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.2186dupA",
"hgvs_p": "p.Asn729fs",
"transcript": "NM_001284237.2",
"protein_id": "NP_001271166.2",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 809,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2430,
"cdna_start": 2316,
"cdna_end": null,
"cdna_length": 2892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.2186dupA",
"hgvs_p": "p.Asn729fs",
"transcript": "XM_005248632.5",
"protein_id": "XP_005248689.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 1539,
"cds_start": 2187,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 2498,
"cdna_end": null,
"cdna_length": 10933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.2186dupA",
"hgvs_p": "p.Asn729fs",
"transcript": "XM_017010091.2",
"protein_id": "XP_016865580.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 1539,
"cds_start": 2187,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 2498,
"cdna_end": null,
"cdna_length": 10933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.2186dupA",
"hgvs_p": "p.Asn729fs",
"transcript": "XM_017010092.3",
"protein_id": "XP_016865581.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 1539,
"cds_start": 2187,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 2552,
"cdna_end": null,
"cdna_length": 10987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.2186dupA",
"hgvs_p": "p.Asn729fs",
"transcript": "XM_024446270.2",
"protein_id": "XP_024302038.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 1539,
"cds_start": 2187,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 2420,
"cdna_end": null,
"cdna_length": 10855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.2186dupA",
"hgvs_p": "p.Asn729fs",
"transcript": "XM_047417941.1",
"protein_id": "XP_047273897.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 1539,
"cds_start": 2187,
"cds_end": null,
"cds_length": 4620,
"cdna_start": 4398,
"cdna_end": null,
"cdna_length": 12833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.2186dupA",
"hgvs_p": "p.Asn729fs",
"transcript": "XM_047417942.1",
"protein_id": "XP_047273898.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 910,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2733,
"cdna_start": 2316,
"cdna_end": null,
"cdna_length": 2957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.2186dupA",
"hgvs_p": "p.Asn729fs",
"transcript": "XM_047417943.1",
"protein_id": "XP_047273899.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 817,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 2370,
"cdna_end": null,
"cdna_length": 4818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.2186dupA",
"hgvs_p": "p.Asn729fs",
"transcript": "XM_047417944.1",
"protein_id": "XP_047273900.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 816,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2316,
"cdna_end": null,
"cdna_length": 2798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.2186dupA",
"hgvs_p": "p.Asn729fs",
"transcript": "XM_047417946.1",
"protein_id": "XP_047273902.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 816,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2370,
"cdna_end": null,
"cdna_length": 2852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.2186dupA",
"hgvs_p": "p.Asn729fs",
"transcript": "XM_047417947.1",
"protein_id": "XP_047273903.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 816,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2451,
"cdna_start": 2444,
"cdna_end": null,
"cdna_length": 2926,
"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": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "n.2324dupA",
"hgvs_p": null,
"transcript": "ENST00000512558.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4496,
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "n.2443dupA",
"hgvs_p": null,
"transcript": "NR_146172.2",
"protein_id": null,
"transcript_support_level": null,
"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": 11082,
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "n.2365dupA",
"hgvs_p": null,
"transcript": "NR_146173.2",
"protein_id": null,
"transcript_support_level": null,
"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": 10856,
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "n.2443dupA",
"hgvs_p": null,
"transcript": "NR_146174.2",
"protein_id": null,
"transcript_support_level": null,
"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": 11027,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "n.2315dupA",
"hgvs_p": null,
"transcript": "XR_007058663.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM151B-DT",
"gene_hgnc_id": 55578,
"hgvs_c": "n.259-24401dupT",
"hgvs_p": null,
"transcript": "ENST00000666568.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"dbsnp": "rs34397330",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.475,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000505560.5",
"gene_symbol": "ZFYVE16",
"hgnc_id": 20756,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2186dupA",
"hgvs_p": "p.Asn729fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000666568.1",
"gene_symbol": "FAM151B-DT",
"hgnc_id": 55578,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.259-24401dupT",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}