← 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: 14-100538643-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=100538643&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 100538643,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001385085.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1165C>A",
"hgvs_p": "p.Arg389Arg",
"transcript": "NM_001385089.1",
"protein_id": "NP_001372018.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 612,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000554140.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385089.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1165C>A",
"hgvs_p": "p.Arg389Arg",
"transcript": "ENST00000554140.3",
"protein_id": "ENSP00000451125.2",
"transcript_support_level": 5,
"aa_start": 389,
"aa_end": null,
"aa_length": 612,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385089.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554140.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1108C>A",
"hgvs_p": "p.Arg370Arg",
"transcript": "ENST00000355173.7",
"protein_id": "ENSP00000347301.2",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 593,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355173.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1108C>A",
"hgvs_p": "p.Arg370Arg",
"transcript": "ENST00000557378.6",
"protein_id": "ENSP00000450722.2",
"transcript_support_level": 1,
"aa_start": 370,
"aa_end": null,
"aa_length": 593,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557378.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1765C>A",
"hgvs_p": "p.Arg589Arg",
"transcript": "ENST00000637716.2",
"protein_id": "ENSP00000490571.1",
"transcript_support_level": 5,
"aa_start": 589,
"aa_end": null,
"aa_length": 812,
"cds_start": 1765,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637716.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Arg419Arg",
"transcript": "NM_001385085.1",
"protein_id": "NP_001372014.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 642,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385085.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1237C>A",
"hgvs_p": "p.Arg413Arg",
"transcript": "NM_001385086.1",
"protein_id": "NP_001372015.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 636,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385086.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1234C>A",
"hgvs_p": "p.Arg412Arg",
"transcript": "NM_001385087.1",
"protein_id": "NP_001372016.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 635,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385087.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1198C>A",
"hgvs_p": "p.Arg400Arg",
"transcript": "NM_001385088.1",
"protein_id": "NP_001372017.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 623,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385088.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1198C>A",
"hgvs_p": "p.Arg400Arg",
"transcript": "ENST00000637646.1",
"protein_id": "ENSP00000489826.1",
"transcript_support_level": 5,
"aa_start": 400,
"aa_end": null,
"aa_length": 623,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637646.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1147C>A",
"hgvs_p": "p.Arg383Arg",
"transcript": "NM_001385090.1",
"protein_id": "NP_001372019.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 606,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385090.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1147C>A",
"hgvs_p": "p.Arg383Arg",
"transcript": "ENST00000965912.1",
"protein_id": "ENSP00000635971.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 606,
"cds_start": 1147,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965912.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1144C>A",
"hgvs_p": "p.Arg382Arg",
"transcript": "NM_001385091.1",
"protein_id": "NP_001372020.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 605,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385091.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1129C>A",
"hgvs_p": "p.Arg377Arg",
"transcript": "NM_001385092.1",
"protein_id": "NP_001372021.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 600,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385092.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1108C>A",
"hgvs_p": "p.Arg370Arg",
"transcript": "NM_001159531.2",
"protein_id": "NP_001153003.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 593,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159531.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1108C>A",
"hgvs_p": "p.Arg370Arg",
"transcript": "NM_001385082.1",
"protein_id": "NP_001372011.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 593,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385082.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1108C>A",
"hgvs_p": "p.Arg370Arg",
"transcript": "NM_001385083.1",
"protein_id": "NP_001372012.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 593,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385083.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1108C>A",
"hgvs_p": "p.Arg370Arg",
"transcript": "NM_001385084.1",
"protein_id": "NP_001372013.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 593,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385084.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1108C>A",
"hgvs_p": "p.Arg370Arg",
"transcript": "NM_020836.4",
"protein_id": "NP_065887.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 593,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020836.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1108C>A",
"hgvs_p": "p.Arg370Arg",
"transcript": "ENST00000553553.6",
"protein_id": "ENSP00000451397.2",
"transcript_support_level": 3,
"aa_start": 370,
"aa_end": null,
"aa_length": 593,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553553.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1108C>A",
"hgvs_p": "p.Arg370Arg",
"transcript": "ENST00000556188.6",
"protein_id": "ENSP00000452157.2",
"transcript_support_level": 3,
"aa_start": 370,
"aa_end": null,
"aa_length": 593,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1782,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556188.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1081C>A",
"hgvs_p": "p.Arg361Arg",
"transcript": "NM_001385093.1",
"protein_id": "NP_001372022.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 584,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385093.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Arg355Arg",
"transcript": "NM_001385094.1",
"protein_id": "NP_001372023.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 578,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385094.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1045C>A",
"hgvs_p": "p.Arg349Arg",
"transcript": "NM_001385095.1",
"protein_id": "NP_001372024.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 572,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385095.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1024C>A",
"hgvs_p": "p.Arg342Arg",
"transcript": "NM_001385096.1",
"protein_id": "NP_001372025.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 565,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385096.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1024C>A",
"hgvs_p": "p.Arg342Arg",
"transcript": "NM_001385097.1",
"protein_id": "NP_001372026.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 565,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385097.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1024C>A",
"hgvs_p": "p.Arg342Arg",
"transcript": "NM_001385098.1",
"protein_id": "NP_001372027.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 565,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385098.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1024C>A",
"hgvs_p": "p.Arg342Arg",
"transcript": "NM_001385099.1",
"protein_id": "NP_001372028.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 565,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385099.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1024C>A",
"hgvs_p": "p.Arg342Arg",
"transcript": "NM_001385100.1",
"protein_id": "NP_001372029.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 565,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385100.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.916C>A",
"hgvs_p": "p.Arg306Arg",
"transcript": "NM_001385101.1",
"protein_id": "NP_001372030.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 529,
"cds_start": 916,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385101.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.916C>A",
"hgvs_p": "p.Arg306Arg",
"transcript": "NM_001385102.1",
"protein_id": "NP_001372031.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 529,
"cds_start": 916,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385102.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.916C>A",
"hgvs_p": "p.Arg306Arg",
"transcript": "NM_001385103.1",
"protein_id": "NP_001372032.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 529,
"cds_start": 916,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385103.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.916C>A",
"hgvs_p": "p.Arg306Arg",
"transcript": "NM_001385104.1",
"protein_id": "NP_001372033.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 529,
"cds_start": 916,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385104.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.916C>A",
"hgvs_p": "p.Arg306Arg",
"transcript": "ENST00000554356.6",
"protein_id": "ENSP00000452607.2",
"transcript_support_level": 3,
"aa_start": 306,
"aa_end": null,
"aa_length": 529,
"cds_start": 916,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554356.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1198C>A",
"hgvs_p": "p.Arg400Arg",
"transcript": "XM_024449670.2",
"protein_id": "XP_024305438.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 623,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449670.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1198C>A",
"hgvs_p": "p.Arg400Arg",
"transcript": "XM_047431629.1",
"protein_id": "XP_047287585.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 623,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431629.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1171C>A",
"hgvs_p": "p.Arg391Arg",
"transcript": "XM_024449671.2",
"protein_id": "XP_024305439.2",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 614,
"cds_start": 1171,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449671.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "c.1060C>A",
"hgvs_p": "p.Arg354Arg",
"transcript": "XM_047431630.1",
"protein_id": "XP_047287586.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 577,
"cds_start": 1060,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431630.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "n.4321C>A",
"hgvs_p": null,
"transcript": "ENST00000556751.5",
"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": "ENST00000556751.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"hgvs_c": "n.1343C>A",
"hgvs_p": null,
"transcript": "NR_169571.1",
"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": "NR_169571.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124903382",
"gene_hgnc_id": null,
"hgvs_c": "n.672G>T",
"hgvs_p": null,
"transcript": "XR_007064333.1",
"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_007064333.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124903382",
"gene_hgnc_id": null,
"hgvs_c": "n.672G>T",
"hgvs_p": null,
"transcript": "XR_007064334.1",
"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_007064334.1"
}
],
"gene_symbol": "BEGAIN",
"gene_hgnc_id": 24163,
"dbsnp": "rs775701649",
"frequency_reference_population": 7.156014e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.15601e-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": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.304,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001385085.1",
"gene_symbol": "BEGAIN",
"hgnc_id": 24163,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1255C>A",
"hgvs_p": "p.Arg419Arg"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007064333.1",
"gene_symbol": "LOC124903382",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.672G>T",
"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
}