← 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: 2-200818311-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=200818311&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 200818311,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001207068.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"transcript": "NM_001207067.2",
"protein_id": "NP_001193996.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 419,
"cds_start": 737,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 6511,
"mane_select": "ENST00000409600.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001207067.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"transcript": "ENST00000409600.6",
"protein_id": "ENSP00000386474.1",
"transcript_support_level": 1,
"aa_start": 246,
"aa_end": null,
"aa_length": 419,
"cds_start": 737,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 6511,
"mane_select": "NM_001207067.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409600.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln",
"transcript": "NM_001207068.3",
"protein_id": "NP_001193997.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 451,
"cds_start": 833,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 6538,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001207068.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln",
"transcript": "ENST00000452790.6",
"protein_id": "ENSP00000394316.2",
"transcript_support_level": 2,
"aa_start": 278,
"aa_end": null,
"aa_length": 451,
"cds_start": 833,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 885,
"cdna_end": null,
"cdna_length": 1473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452790.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Arg250Gln",
"transcript": "NM_001207069.2",
"protein_id": "NP_001193998.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 423,
"cds_start": 749,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 6555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001207069.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Arg250Gln",
"transcript": "ENST00000409226.5",
"protein_id": "ENSP00000386837.1",
"transcript_support_level": 2,
"aa_start": 250,
"aa_end": null,
"aa_length": 423,
"cds_start": 749,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409226.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"transcript": "ENST00000861042.1",
"protein_id": "ENSP00000531101.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 423,
"cds_start": 737,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 3009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861042.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"transcript": "NM_001321688.2",
"protein_id": "NP_001308617.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 419,
"cds_start": 737,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 6467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321688.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"transcript": "NM_001321690.1",
"protein_id": "NP_001308619.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 419,
"cds_start": 737,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 3082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321690.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"transcript": "ENST00000861037.1",
"protein_id": "ENSP00000531096.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 419,
"cds_start": 737,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 4596,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861037.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"transcript": "ENST00000861044.1",
"protein_id": "ENSP00000531103.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 419,
"cds_start": 737,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 3018,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861044.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"transcript": "ENST00000861045.1",
"protein_id": "ENSP00000531104.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 419,
"cds_start": 737,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 3005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861045.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"transcript": "ENST00000861046.1",
"protein_id": "ENSP00000531105.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 419,
"cds_start": 737,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 964,
"cdna_end": null,
"cdna_length": 3146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861046.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"transcript": "ENST00000946639.1",
"protein_id": "ENSP00000616698.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 419,
"cds_start": 737,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 1798,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946639.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245Gln",
"transcript": "ENST00000937471.1",
"protein_id": "ENSP00000607530.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 418,
"cds_start": 734,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 3354,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937471.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.734G>A",
"hgvs_p": "p.Arg245Gln",
"transcript": "ENST00000946635.1",
"protein_id": "ENSP00000616694.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 418,
"cds_start": 734,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 922,
"cdna_end": null,
"cdna_length": 3099,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946635.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"transcript": "ENST00000861043.1",
"protein_id": "ENSP00000531102.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 417,
"cds_start": 737,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 813,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861043.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Arg244Gln",
"transcript": "ENST00000937470.1",
"protein_id": "ENSP00000607529.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 417,
"cds_start": 731,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 1180,
"cdna_end": null,
"cdna_length": 3371,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937470.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"transcript": "ENST00000937476.1",
"protein_id": "ENSP00000607535.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 417,
"cds_start": 737,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 1846,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937476.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Arg243Gln",
"transcript": "ENST00000861039.1",
"protein_id": "ENSP00000531098.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 416,
"cds_start": 728,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 819,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861039.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.728G>A",
"hgvs_p": "p.Arg243Gln",
"transcript": "ENST00000946638.1",
"protein_id": "ENSP00000616697.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 416,
"cds_start": 728,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946638.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.725G>A",
"hgvs_p": "p.Arg242Gln",
"transcript": "ENST00000937472.1",
"protein_id": "ENSP00000607531.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 415,
"cds_start": 725,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 3005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937472.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"transcript": "ENST00000861040.1",
"protein_id": "ENSP00000531099.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 414,
"cds_start": 737,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 2991,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861040.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.683G>A",
"hgvs_p": "p.Arg228Gln",
"transcript": "ENST00000937475.1",
"protein_id": "ENSP00000607534.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 401,
"cds_start": 683,
"cds_end": null,
"cds_length": 1206,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937475.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224Gln",
"transcript": "ENST00000946636.1",
"protein_id": "ENSP00000616695.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 397,
"cds_start": 671,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 2968,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946636.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"transcript": "NM_001321691.2",
"protein_id": "NP_001308620.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 385,
"cds_start": 737,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 6409,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321691.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"transcript": "ENST00000861038.1",
"protein_id": "ENSP00000531097.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 378,
"cds_start": 737,
"cds_end": null,
"cds_length": 1137,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 2895,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861038.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"transcript": "ENST00000946637.1",
"protein_id": "ENSP00000616696.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 370,
"cds_start": 737,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 2862,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946637.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Arg187Gln",
"transcript": "NM_001321693.2",
"protein_id": "NP_001308622.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 360,
"cds_start": 560,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 6334,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321693.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.560G>A",
"hgvs_p": "p.Arg187Gln",
"transcript": "ENST00000937474.1",
"protein_id": "ENSP00000607533.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 360,
"cds_start": 560,
"cds_end": null,
"cds_length": 1083,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937474.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"transcript": "NM_014670.4",
"protein_id": "NP_055485.2",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 353,
"cds_start": 737,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 6313,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014670.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.485G>A",
"hgvs_p": "p.Arg162Gln",
"transcript": "NM_001321694.2",
"protein_id": "NP_001308623.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 335,
"cds_start": 485,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 6422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321694.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.737G>A",
"hgvs_p": "p.Arg246Gln",
"transcript": "ENST00000410110.6",
"protein_id": "ENSP00000387086.2",
"transcript_support_level": 5,
"aa_start": 246,
"aa_end": null,
"aa_length": 293,
"cds_start": 737,
"cds_end": null,
"cds_length": 883,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 1075,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410110.6"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.485G>A",
"hgvs_p": "p.Arg162Gln",
"transcript": "XM_017005393.2",
"protein_id": "XP_016860882.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 335,
"cds_start": 485,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 6168,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017005393.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.337-444G>A",
"hgvs_p": null,
"transcript": "ENST00000937473.1",
"protein_id": "ENSP00000607532.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": null,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2523,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937473.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.403-1671G>A",
"hgvs_p": null,
"transcript": "ENST00000861041.1",
"protein_id": "ENSP00000531100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": null,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861041.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "n.139G>A",
"hgvs_p": null,
"transcript": "ENST00000463310.1",
"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": 582,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000463310.1"
},
{
"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": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "n.40G>A",
"hgvs_p": null,
"transcript": "ENST00000491576.1",
"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": 492,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000491576.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.-17G>A",
"hgvs_p": null,
"transcript": "ENST00000359893.4",
"protein_id": "ENSP00000395673.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": null,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 779,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359893.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"hgvs_c": "c.*228G>A",
"hgvs_p": null,
"transcript": "ENST00000452206.5",
"protein_id": "ENSP00000390766.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": null,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452206.5"
}
],
"gene_symbol": "BZW1",
"gene_hgnc_id": 18380,
"dbsnp": "rs762084798",
"frequency_reference_population": 0.0000062048753,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000616653,
"gnomad_genomes_af": 0.00000657272,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5927008986473083,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.328,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1536,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.893,
"phylop100way_prediction": "Pathogenic",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001207068.3",
"gene_symbol": "BZW1",
"hgnc_id": 18380,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Arg278Gln"
}
],
"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
}