← 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: 14-67473436-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=67473436&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 67473436,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001348541.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "NM_001348543.2",
"protein_id": "NP_001335472.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000554480.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348543.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "ENST00000554480.6",
"protein_id": "ENSP00000450859.2",
"transcript_support_level": 2,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001348543.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554480.6"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.620A>C",
"hgvs_p": "p.His207Pro",
"transcript": "NM_001348541.2",
"protein_id": "NP_001335470.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 211,
"cds_start": 620,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348541.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "NM_001348542.2",
"protein_id": "NP_001335471.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348542.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "NM_001348544.2",
"protein_id": "NP_001335473.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348544.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "NM_001348546.2",
"protein_id": "NP_001335475.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348546.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "NM_001348547.2",
"protein_id": "NP_001335476.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348547.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "NM_001348548.2",
"protein_id": "NP_001335477.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348548.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "NM_001348549.2",
"protein_id": "NP_001335478.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348549.2"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "NM_182526.3",
"protein_id": "NP_872332.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182526.3"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "ENST00000357461.7",
"protein_id": "ENSP00000350050.2",
"transcript_support_level": 2,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357461.7"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "ENST00000554278.6",
"protein_id": "ENSP00000452402.2",
"transcript_support_level": 4,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554278.6"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "ENST00000555994.6",
"protein_id": "ENSP00000452144.2",
"transcript_support_level": 3,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555994.6"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "ENST00000557006.6",
"protein_id": "ENSP00000451774.1",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557006.6"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "ENST00000869894.1",
"protein_id": "ENSP00000539953.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869894.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "ENST00000869895.1",
"protein_id": "ENSP00000539954.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869895.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "ENST00000869896.1",
"protein_id": "ENSP00000539955.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869896.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "ENST00000869897.1",
"protein_id": "ENSP00000539956.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869897.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "ENST00000869898.1",
"protein_id": "ENSP00000539957.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869898.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "ENST00000925695.1",
"protein_id": "ENSP00000595754.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925695.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "ENST00000925696.1",
"protein_id": "ENSP00000595755.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925696.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "ENST00000925697.1",
"protein_id": "ENSP00000595756.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925697.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "ENST00000962034.1",
"protein_id": "ENSP00000632093.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962034.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "ENST00000962035.1",
"protein_id": "ENSP00000632094.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962035.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "ENST00000962036.1",
"protein_id": "ENSP00000632095.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962036.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "ENST00000962037.1",
"protein_id": "ENSP00000632096.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962037.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "ENST00000962038.1",
"protein_id": "ENSP00000632097.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962038.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "ENST00000962039.1",
"protein_id": "ENSP00000632098.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962039.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "XM_047431036.1",
"protein_id": "XP_047286992.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431036.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "XM_047431037.1",
"protein_id": "XP_047286993.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431037.1"
},
{
"aa_ref": "H",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "c.488A>C",
"hgvs_p": "p.His163Pro",
"transcript": "XM_047431038.1",
"protein_id": "XP_047286994.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 167,
"cds_start": 488,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431038.1"
},
{
"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": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "GPHN",
"gene_hgnc_id": 15465,
"hgvs_c": "c.1313-261759T>G",
"hgvs_p": null,
"transcript": "XM_047430879.1",
"protein_id": "XP_047286835.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 485,
"cds_start": null,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430879.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"hgvs_c": "n.488A>C",
"hgvs_p": null,
"transcript": "ENST00000555638.5",
"protein_id": "ENSP00000452201.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000555638.5"
}
],
"gene_symbol": "TMEM229B",
"gene_hgnc_id": 20130,
"dbsnp": "rs1361111270",
"frequency_reference_population": 0.0000013682679,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136827,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2854922413825989,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.165,
"revel_prediction": "Benign",
"alphamissense_score": 0.158,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.069,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001348541.2",
"gene_symbol": "TMEM229B",
"hgnc_id": 20130,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.620A>C",
"hgvs_p": "p.His207Pro"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "XM_047430879.1",
"gene_symbol": "GPHN",
"hgnc_id": 15465,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1313-261759T>G",
"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
}