← 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: 20-31721661-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=31721661&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 31721661,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_138578.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "NM_138578.3",
"protein_id": "NP_612815.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000307677.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138578.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "ENST00000307677.5",
"protein_id": "ENSP00000302564.4",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138578.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000307677.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "ENST00000376062.6",
"protein_id": "ENSP00000365230.2",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376062.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "ENST00000450273.2",
"protein_id": "ENSP00000406203.2",
"transcript_support_level": 3,
"aa_start": 186,
"aa_end": null,
"aa_length": 307,
"cds_start": 558,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450273.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "ENST00000941694.1",
"protein_id": "ENSP00000611753.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 307,
"cds_start": 558,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941694.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "ENST00000941693.1",
"protein_id": "ENSP00000611752.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 251,
"cds_start": 558,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941693.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "ENST00000925014.1",
"protein_id": "ENSP00000595073.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 250,
"cds_start": 558,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925014.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "ENST00000925015.1",
"protein_id": "ENSP00000595074.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 250,
"cds_start": 558,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925015.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "NM_001317919.2",
"protein_id": "NP_001304848.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317919.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "NM_001317920.2",
"protein_id": "NP_001304849.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317920.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "NM_001317921.2",
"protein_id": "NP_001304850.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317921.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "NM_001322239.2",
"protein_id": "NP_001309168.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322239.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "NM_001322240.2",
"protein_id": "NP_001309169.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322240.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "NM_001322242.2",
"protein_id": "NP_001309171.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322242.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "NM_001424331.1",
"protein_id": "NP_001411260.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424331.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "NM_001424332.1",
"protein_id": "NP_001411261.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424332.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "ENST00000420488.6",
"protein_id": "ENSP00000390760.2",
"transcript_support_level": 2,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420488.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "ENST00000434194.2",
"protein_id": "ENSP00000401173.2",
"transcript_support_level": 3,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434194.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "ENST00000439267.2",
"protein_id": "ENSP00000389688.2",
"transcript_support_level": 2,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439267.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "ENST00000456404.6",
"protein_id": "ENSP00000395545.2",
"transcript_support_level": 2,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456404.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "ENST00000676582.1",
"protein_id": "ENSP00000503725.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676582.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "ENST00000676942.1",
"protein_id": "ENSP00000504536.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676942.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "ENST00000677194.1",
"protein_id": "ENSP00000504387.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677194.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "ENST00000678563.1",
"protein_id": "ENSP00000504237.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678563.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "ENST00000870614.1",
"protein_id": "ENSP00000540673.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870614.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "ENST00000870619.1",
"protein_id": "ENSP00000540678.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870619.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "ENST00000870620.1",
"protein_id": "ENSP00000540679.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870620.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "ENST00000870622.1",
"protein_id": "ENSP00000540681.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870622.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "ENST00000925016.1",
"protein_id": "ENSP00000595075.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925016.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly",
"transcript": "ENST00000925017.1",
"protein_id": "ENSP00000595076.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 233,
"cds_start": 558,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925017.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.486+72C>T",
"hgvs_p": null,
"transcript": "ENST00000925013.1",
"protein_id": "ENSP00000595072.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 207,
"cds_start": null,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925013.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.375+183C>T",
"hgvs_p": null,
"transcript": "NM_001191.4",
"protein_id": "NP_001182.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001191.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.375+183C>T",
"hgvs_p": null,
"transcript": "ENST00000376055.9",
"protein_id": "ENSP00000365223.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376055.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.375+183C>T",
"hgvs_p": null,
"transcript": "ENST00000422920.2",
"protein_id": "ENSP00000411252.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422920.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.375+183C>T",
"hgvs_p": null,
"transcript": "ENST00000870615.1",
"protein_id": "ENSP00000540674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870615.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.375+183C>T",
"hgvs_p": null,
"transcript": "ENST00000870616.1",
"protein_id": "ENSP00000540675.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870616.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.375+183C>T",
"hgvs_p": null,
"transcript": "ENST00000870617.1",
"protein_id": "ENSP00000540676.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870617.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.375+183C>T",
"hgvs_p": null,
"transcript": "ENST00000870618.1",
"protein_id": "ENSP00000540677.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870618.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.375+183C>T",
"hgvs_p": null,
"transcript": "ENST00000870621.1",
"protein_id": "ENSP00000540680.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870621.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.375+183C>T",
"hgvs_p": null,
"transcript": "ENST00000870623.1",
"protein_id": "ENSP00000540682.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870623.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.375+183C>T",
"hgvs_p": null,
"transcript": "ENST00000925012.1",
"protein_id": "ENSP00000595071.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": null,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925012.1"
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABALON",
"gene_hgnc_id": null,
"hgvs_c": "n.155G>A",
"hgvs_p": null,
"transcript": "ENST00000629058.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000629058.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "n.558C>T",
"hgvs_p": null,
"transcript": "ENST00000678671.1",
"protein_id": "ENSP00000504137.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000678671.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "n.670C>T",
"hgvs_p": null,
"transcript": "NR_134257.1",
"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_134257.1"
}
],
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"dbsnp": "rs778992647",
"frequency_reference_population": 0.0000642842,
"hom_count_reference_population": 0,
"allele_count_reference_population": 103,
"gnomad_exomes_af": 0.0000627456,
"gnomad_genomes_af": 0.0000789692,
"gnomad_exomes_ac": 91,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5099999904632568,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.852,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_138578.3",
"gene_symbol": "BCL2L1",
"hgnc_id": 992,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.558C>T",
"hgvs_p": "p.Gly186Gly"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000629058.1",
"gene_symbol": "ABALON",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.155G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}