← 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: 10-88947315-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=88947315&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 88947315,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001613.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "NM_001613.4",
"protein_id": "NP_001604.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000224784.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001613.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000224784.10",
"protein_id": "ENSP00000224784.6",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001613.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000224784.10"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000713598.1",
"protein_id": "ENSP00000518894.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 391,
"cds_start": 201,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713598.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "NM_001141945.3",
"protein_id": "NP_001135417.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001141945.3"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "NM_001320855.2",
"protein_id": "NP_001307784.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320855.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "NM_001406462.1",
"protein_id": "NP_001393391.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406462.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "NM_001406463.1",
"protein_id": "NP_001393392.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406463.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "NM_001406464.1",
"protein_id": "NP_001393393.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406464.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000415557.2",
"protein_id": "ENSP00000396730.2",
"transcript_support_level": 3,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415557.2"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000458159.6",
"protein_id": "ENSP00000398239.2",
"transcript_support_level": 3,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458159.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000713597.1",
"protein_id": "ENSP00000518893.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713597.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000713599.1",
"protein_id": "ENSP00000518895.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713599.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000713602.1",
"protein_id": "ENSP00000518898.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713602.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000903375.1",
"protein_id": "ENSP00000573434.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903375.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000903377.1",
"protein_id": "ENSP00000573436.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903377.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000946937.1",
"protein_id": "ENSP00000616996.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946937.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000946938.1",
"protein_id": "ENSP00000616997.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946938.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000946939.1",
"protein_id": "ENSP00000616998.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946939.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000946940.1",
"protein_id": "ENSP00000616999.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946940.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000946942.1",
"protein_id": "ENSP00000617001.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946942.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000946943.1",
"protein_id": "ENSP00000617002.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946943.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000946945.1",
"protein_id": "ENSP00000617004.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946945.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000946947.1",
"protein_id": "ENSP00000617006.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946947.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000946948.1",
"protein_id": "ENSP00000617007.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946948.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000946949.1",
"protein_id": "ENSP00000617008.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946949.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000946950.1",
"protein_id": "ENSP00000617009.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946950.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000946951.1",
"protein_id": "ENSP00000617010.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946951.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000946952.1",
"protein_id": "ENSP00000617011.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946952.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000946953.1",
"protein_id": "ENSP00000617012.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 377,
"cds_start": 201,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946953.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000946941.1",
"protein_id": "ENSP00000617000.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 369,
"cds_start": 201,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946941.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000946944.1",
"protein_id": "ENSP00000617003.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 361,
"cds_start": 201,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946944.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "NM_001406466.1",
"protein_id": "NP_001393395.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 340,
"cds_start": 201,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406466.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000713600.1",
"protein_id": "ENSP00000518896.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 340,
"cds_start": 201,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713600.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000946946.1",
"protein_id": "ENSP00000617005.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 323,
"cds_start": 201,
"cds_end": null,
"cds_length": 972,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946946.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "NM_001406471.1",
"protein_id": "NP_001393400.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 313,
"cds_start": 201,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406471.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu",
"transcript": "ENST00000903376.1",
"protein_id": "ENSP00000573435.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 313,
"cds_start": 201,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903376.1"
},
{
"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": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "STAMBPL1",
"gene_hgnc_id": 24105,
"hgvs_c": "c.1254+24879C>A",
"hgvs_p": null,
"transcript": "ENST00000371927.7",
"protein_id": "ENSP00000360995.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 461,
"cds_start": null,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371927.7"
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.129+1487G>T",
"hgvs_p": null,
"transcript": "NM_001406467.1",
"protein_id": "NP_001393396.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": null,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406467.1"
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.129+1487G>T",
"hgvs_p": null,
"transcript": "NM_001406468.1",
"protein_id": "NP_001393397.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": null,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406468.1"
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.129+1487G>T",
"hgvs_p": null,
"transcript": "NM_001406469.1",
"protein_id": "NP_001393398.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": null,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406469.1"
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "c.129+1487G>T",
"hgvs_p": null,
"transcript": "ENST00000713601.1",
"protein_id": "ENSP00000518897.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": null,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713601.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "n.267G>T",
"hgvs_p": null,
"transcript": "ENST00000480297.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000480297.6"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "n.1682G>T",
"hgvs_p": null,
"transcript": "ENST00000482085.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000482085.2"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "n.267G>T",
"hgvs_p": null,
"transcript": "ENST00000488967.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000488967.5"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"hgvs_c": "n.201G>T",
"hgvs_p": null,
"transcript": "ENST00000713603.1",
"protein_id": "ENSP00000518899.1",
"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": "ENST00000713603.1"
}
],
"gene_symbol": "ACTA2",
"gene_hgnc_id": 130,
"dbsnp": "rs199773697",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.33000001311302185,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.652,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001613.4",
"gene_symbol": "ACTA2",
"hgnc_id": 130,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.201G>T",
"hgvs_p": "p.Leu67Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000371927.7",
"gene_symbol": "STAMBPL1",
"hgnc_id": 24105,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1254+24879C>A",
"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
}