← 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: 5-80437047-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=80437047&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 80437047,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014733.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "NM_001284236.3",
"protein_id": "NP_001271165.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1539,
"cds_start": 362,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000505560.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284236.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000505560.5",
"protein_id": "ENSP00000426848.1",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 1539,
"cds_start": 362,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001284236.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505560.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000338008.9",
"protein_id": "ENSP00000337159.5",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 1539,
"cds_start": 362,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338008.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000510158.5",
"protein_id": "ENSP00000423663.1",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 1539,
"cds_start": 362,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510158.5"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "n.472G>A",
"hgvs_p": null,
"transcript": "ENST00000510995.1",
"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": "retained_intron",
"feature": "ENST00000510995.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000967669.1",
"protein_id": "ENSP00000637728.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1543,
"cds_start": 362,
"cds_end": null,
"cds_length": 4632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967669.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "NM_001105251.4",
"protein_id": "NP_001098721.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1539,
"cds_start": 362,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105251.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "NM_001349434.2",
"protein_id": "NP_001336363.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1539,
"cds_start": 362,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349434.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "NM_014733.6",
"protein_id": "NP_055548.4",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1539,
"cds_start": 362,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014733.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000868097.1",
"protein_id": "ENSP00000538156.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1539,
"cds_start": 362,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868097.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000868098.1",
"protein_id": "ENSP00000538157.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1539,
"cds_start": 362,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868098.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000967667.1",
"protein_id": "ENSP00000637726.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1539,
"cds_start": 362,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967667.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000967668.1",
"protein_id": "ENSP00000637727.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1539,
"cds_start": 362,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967668.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000967671.1",
"protein_id": "ENSP00000637730.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1539,
"cds_start": 362,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967671.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000967670.1",
"protein_id": "ENSP00000637729.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1516,
"cds_start": 362,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967670.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "ENST00000868099.1",
"protein_id": "ENSP00000538158.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1504,
"cds_start": 362,
"cds_end": null,
"cds_length": 4515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868099.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "NM_001284237.2",
"protein_id": "NP_001271166.2",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 809,
"cds_start": 362,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284237.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.8G>A",
"hgvs_p": "p.Arg3Gln",
"transcript": "ENST00000509562.2",
"protein_id": "ENSP00000422356.2",
"transcript_support_level": 3,
"aa_start": 3,
"aa_end": null,
"aa_length": 39,
"cds_start": 8,
"cds_end": null,
"cds_length": 120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509562.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "XM_005248632.5",
"protein_id": "XP_005248689.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1539,
"cds_start": 362,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248632.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "XM_017010091.2",
"protein_id": "XP_016865580.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1539,
"cds_start": 362,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010091.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "XM_017010092.3",
"protein_id": "XP_016865581.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1539,
"cds_start": 362,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010092.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "XM_024446270.2",
"protein_id": "XP_024302038.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1539,
"cds_start": 362,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446270.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "XM_047417941.1",
"protein_id": "XP_047273897.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 1539,
"cds_start": 362,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417941.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "XM_047417942.1",
"protein_id": "XP_047273898.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 910,
"cds_start": 362,
"cds_end": null,
"cds_length": 2733,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417942.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "XM_047417943.1",
"protein_id": "XP_047273899.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 817,
"cds_start": 362,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417943.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "XM_047417944.1",
"protein_id": "XP_047273900.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 816,
"cds_start": 362,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417944.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "XM_047417946.1",
"protein_id": "XP_047273902.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 816,
"cds_start": 362,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417946.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.362G>A",
"hgvs_p": "p.Arg121Gln",
"transcript": "XM_047417947.1",
"protein_id": "XP_047273903.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 816,
"cds_start": 362,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417947.1"
},
{
"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.500G>A",
"hgvs_p": null,
"transcript": "ENST00000512558.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000512558.5"
},
{
"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.619G>A",
"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": 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": "NR_146172.2"
},
{
"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.541G>A",
"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": 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": "NR_146173.2"
},
{
"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.619G>A",
"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": 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": "NR_146174.2"
},
{
"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.491G>A",
"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": 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": "XR_007058663.1"
},
{
"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.259-22580C>T",
"hgvs_p": null,
"transcript": "ENST00000666568.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000666568.1"
}
],
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"dbsnp": "rs532644018",
"frequency_reference_population": 0.000040272364,
"hom_count_reference_population": 0,
"allele_count_reference_population": 65,
"gnomad_exomes_af": 0.0000355718,
"gnomad_genomes_af": 0.0000854274,
"gnomad_exomes_ac": 52,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2937493324279785,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.173,
"revel_prediction": "Benign",
"alphamissense_score": 0.0814,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.687,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_014733.6",
"gene_symbol": "ZFYVE16",
"hgnc_id": 20756,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121Gln"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000666568.1",
"gene_symbol": "FAM151B-DT",
"hgnc_id": 55578,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.259-22580C>T",
"hgvs_p": null
}
],
"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
}