← 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: 19-3531982-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=3531982&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 3531982,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001136198.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "NM_016263.4",
"protein_id": "NP_057347.2",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 493,
"cds_start": 895,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000441788.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016263.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "ENST00000441788.7",
"protein_id": "ENSP00000410369.1",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 493,
"cds_start": 895,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016263.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441788.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "ENST00000395095.7",
"protein_id": "ENSP00000378529.2",
"transcript_support_level": 1,
"aa_start": 299,
"aa_end": null,
"aa_length": 496,
"cds_start": 895,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395095.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.628C>T",
"hgvs_p": "p.Arg210Cys",
"transcript": "ENST00000313639.8",
"protein_id": "ENSP00000321800.7",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 404,
"cds_start": 628,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313639.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "ENST00000928283.1",
"protein_id": "ENSP00000598342.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 536,
"cds_start": 895,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928283.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "ENST00000876601.1",
"protein_id": "ENSP00000546660.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 533,
"cds_start": 895,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876601.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "ENST00000876599.1",
"protein_id": "ENSP00000546658.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 515,
"cds_start": 895,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876599.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "NM_001136198.1",
"protein_id": "NP_001129670.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 496,
"cds_start": 895,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136198.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "ENST00000652521.1",
"protein_id": "ENSP00000498659.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 493,
"cds_start": 895,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652521.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "ENST00000876600.1",
"protein_id": "ENSP00000546659.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 493,
"cds_start": 895,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876600.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "ENST00000876604.1",
"protein_id": "ENSP00000546663.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 493,
"cds_start": 895,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876604.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "ENST00000876605.1",
"protein_id": "ENSP00000546664.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 493,
"cds_start": 895,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876605.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "ENST00000928282.1",
"protein_id": "ENSP00000598341.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 493,
"cds_start": 895,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928282.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "ENST00000928284.1",
"protein_id": "ENSP00000598343.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 493,
"cds_start": 895,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928284.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "ENST00000928286.1",
"protein_id": "ENSP00000598345.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 493,
"cds_start": 895,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928286.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "ENST00000951911.1",
"protein_id": "ENSP00000621970.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 493,
"cds_start": 895,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951911.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "ENST00000951912.1",
"protein_id": "ENSP00000621971.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 493,
"cds_start": 895,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951912.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "ENST00000951913.1",
"protein_id": "ENSP00000621972.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 493,
"cds_start": 895,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951913.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "ENST00000876603.1",
"protein_id": "ENSP00000546662.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 475,
"cds_start": 895,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876603.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "ENST00000876598.1",
"protein_id": "ENSP00000546657.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 472,
"cds_start": 895,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876598.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "ENST00000876602.1",
"protein_id": "ENSP00000546661.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 472,
"cds_start": 895,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876602.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "ENST00000928285.1",
"protein_id": "ENSP00000598344.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 415,
"cds_start": 895,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928285.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.628C>T",
"hgvs_p": "p.Arg210Cys",
"transcript": "NM_001136197.1",
"protein_id": "NP_001129669.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 404,
"cds_start": 628,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136197.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Arg331Cys",
"transcript": "XM_017026863.3",
"protein_id": "XP_016882352.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 528,
"cds_start": 991,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026863.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.943C>T",
"hgvs_p": "p.Arg315Cys",
"transcript": "XM_047438908.1",
"protein_id": "XP_047294864.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 512,
"cds_start": 943,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438908.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.943C>T",
"hgvs_p": "p.Arg315Cys",
"transcript": "XM_047438909.1",
"protein_id": "XP_047294865.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 509,
"cds_start": 943,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438909.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"transcript": "XM_005259573.6",
"protein_id": "XP_005259630.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 496,
"cds_start": 895,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005259573.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "n.895C>T",
"hgvs_p": null,
"transcript": "ENST00000591290.5",
"protein_id": "ENSP00000467967.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000591290.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "n.929C>T",
"hgvs_p": null,
"transcript": "XR_001753699.1",
"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_001753699.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"hgvs_c": "n.*216C>T",
"hgvs_p": null,
"transcript": "ENST00000592214.1",
"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": "retained_intron",
"feature": "ENST00000592214.1"
}
],
"gene_symbol": "FZR1",
"gene_hgnc_id": 24824,
"dbsnp": null,
"frequency_reference_population": 7.087343e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.08734e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9095402956008911,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.492,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9238,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.069,
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001136198.1",
"gene_symbol": "FZR1",
"hgnc_id": 24824,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}