← 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: 2-218661135-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218661135&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218661135,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000359273.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "NM_001079866.2",
"protein_id": "NP_001073335.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 1427,
"mane_select": "ENST00000359273.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "ENST00000359273.8",
"protein_id": "ENSP00000352219.3",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 1427,
"mane_select": "NM_001079866.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "ENST00000392109.5",
"protein_id": "ENSP00000375957.1",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 1583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "ENST00000392111.7",
"protein_id": "ENSP00000375959.2",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 1636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "ENST00000412366.5",
"protein_id": "ENSP00000406494.1",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 1430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "NM_001257342.2",
"protein_id": "NP_001244271.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "NM_001257343.2",
"protein_id": "NP_001244272.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "NM_001257344.2",
"protein_id": "NP_001244273.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 315,
"cdna_end": null,
"cdna_length": 1484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "NM_001320717.2",
"protein_id": "NP_001307646.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "NM_001371443.1",
"protein_id": "NP_001358372.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "NM_001371444.1",
"protein_id": "NP_001358373.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 643,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "NM_001371446.1",
"protein_id": "NP_001358375.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 2432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "NM_001371447.1",
"protein_id": "NP_001358376.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "NM_001371448.1",
"protein_id": "NP_001358377.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "NM_001371449.1",
"protein_id": "NP_001358378.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "NM_001371450.1",
"protein_id": "NP_001358379.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 936,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "NM_001374085.1",
"protein_id": "NP_001361014.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "NM_004328.5",
"protein_id": "NP_004319.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 1636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "ENST00000392110.6",
"protein_id": "ENSP00000375958.2",
"transcript_support_level": 2,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 357,
"cdna_end": null,
"cdna_length": 1525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "ENST00000431802.5",
"protein_id": "ENSP00000413908.1",
"transcript_support_level": 2,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 2015,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "ENST00000439945.5",
"protein_id": "ENSP00000404999.1",
"transcript_support_level": 5,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "ENST00000430322.5",
"protein_id": "ENSP00000398957.1",
"transcript_support_level": 5,
"aa_start": 50,
"aa_end": null,
"aa_length": 205,
"cds_start": 148,
"cds_end": null,
"cds_length": 618,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 1036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "ENST00000456050.5",
"protein_id": "ENSP00000395440.1",
"transcript_support_level": 5,
"aa_start": 50,
"aa_end": null,
"aa_length": 205,
"cds_start": 148,
"cds_end": null,
"cds_length": 618,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 815,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "ENST00000643945.1",
"protein_id": "ENSP00000496514.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 152,
"cds_start": 148,
"cds_end": null,
"cds_length": 459,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "ENST00000423377.5",
"protein_id": "ENSP00000397293.1",
"transcript_support_level": 3,
"aa_start": 50,
"aa_end": null,
"aa_length": 109,
"cds_start": 148,
"cds_end": null,
"cds_length": 331,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "ENST00000428880.5",
"protein_id": "ENSP00000391007.1",
"transcript_support_level": 4,
"aa_start": 50,
"aa_end": null,
"aa_length": 75,
"cds_start": 148,
"cds_end": null,
"cds_length": 230,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "XM_047445384.1",
"protein_id": "XP_047301340.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 2139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "XM_047445385.1",
"protein_id": "XP_047301341.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 1601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "XM_047445387.1",
"protein_id": "XP_047301343.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 1614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "XM_047445388.1",
"protein_id": "XP_047301344.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "XM_047445389.1",
"protein_id": "XP_047301345.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 419,
"cds_start": 148,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 1797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala",
"transcript": "XM_047445390.1",
"protein_id": "XP_047301346.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 260,
"cds_start": 148,
"cds_end": null,
"cds_length": 783,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 2184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "n.72A>G",
"hgvs_p": null,
"transcript": "ENST00000471576.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "n.269A>G",
"hgvs_p": null,
"transcript": "ENST00000493376.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "n.1160A>G",
"hgvs_p": null,
"transcript": "NR_163955.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.-329A>G",
"hgvs_p": null,
"transcript": "NM_001371453.1",
"protein_id": "NP_001358382.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.-329A>G",
"hgvs_p": null,
"transcript": "NM_001371454.1",
"protein_id": "NP_001358383.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.-329A>G",
"hgvs_p": null,
"transcript": "NM_001371455.1",
"protein_id": "NP_001358384.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.-329A>G",
"hgvs_p": null,
"transcript": "NM_001371456.1",
"protein_id": "NP_001358385.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.-329A>G",
"hgvs_p": null,
"transcript": "NM_001374086.1",
"protein_id": "NP_001361015.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.-40-271A>G",
"hgvs_p": null,
"transcript": "NM_001318836.2",
"protein_id": "NP_001305765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": -4,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.-40-271A>G",
"hgvs_p": null,
"transcript": "NM_001371451.1",
"protein_id": "NP_001358380.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": -4,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.-41-624A>G",
"hgvs_p": null,
"transcript": "NM_001371452.1",
"protein_id": "NP_001358381.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": -4,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.-40-271A>G",
"hgvs_p": null,
"transcript": "ENST00000443791.5",
"protein_id": "ENSP00000412729.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": -4,
"cds_end": null,
"cds_length": 452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"dbsnp": "rs121908580",
"frequency_reference_population": 6.8404506e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84045e-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": 0.9677911996841431,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.959,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5944,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.302,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM1",
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000359273.8",
"gene_symbol": "BCS1L",
"hgnc_id": 1020,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Thr50Ala"
}
],
"clinvar_disease": "Mitochondrial complex III deficiency nuclear type 1",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Mitochondrial complex III deficiency nuclear type 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}