← 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: 2-157766005-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=157766005&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 157766005,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001105.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "NM_001111067.4",
"protein_id": "NP_001104537.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000434821.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001111067.4"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000434821.7",
"protein_id": "ENSP00000405004.1",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001111067.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434821.7"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000263640.7",
"protein_id": "ENSP00000263640.3",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263640.7"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000410057.6",
"protein_id": "ENSP00000387127.2",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410057.6"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "NM_001105.5",
"protein_id": "NP_001096.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105.5"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "NM_001347663.1",
"protein_id": "NP_001334592.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347663.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "NM_001347664.1",
"protein_id": "NP_001334593.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347664.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "NM_001347665.1",
"protein_id": "NP_001334594.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347665.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "NM_001347666.1",
"protein_id": "NP_001334595.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347666.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "NM_001347667.2",
"protein_id": "NP_001334596.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347667.2"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000409283.6",
"protein_id": "ENSP00000387273.2",
"transcript_support_level": 5,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409283.6"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000424669.6",
"protein_id": "ENSP00000400767.2",
"transcript_support_level": 4,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424669.6"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000539637.6",
"protein_id": "ENSP00000440091.2",
"transcript_support_level": 4,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539637.6"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000672582.1",
"protein_id": "ENSP00000500605.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672582.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000673324.1",
"protein_id": "ENSP00000500109.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673324.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000682025.1",
"protein_id": "ENSP00000507086.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682025.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000682300.1",
"protein_id": "ENSP00000507102.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682300.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000683441.1",
"protein_id": "ENSP00000508189.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683441.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000683487.1",
"protein_id": "ENSP00000507113.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683487.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000683820.1",
"protein_id": "ENSP00000507727.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683820.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000684348.1",
"protein_id": "ENSP00000508136.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684348.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000684595.1",
"protein_id": "ENSP00000507730.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684595.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000864651.1",
"protein_id": "ENSP00000534710.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864651.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000864652.1",
"protein_id": "ENSP00000534711.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864652.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000864653.1",
"protein_id": "ENSP00000534712.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864653.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000864654.1",
"protein_id": "ENSP00000534713.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864654.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000864655.1",
"protein_id": "ENSP00000534714.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864655.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000864656.1",
"protein_id": "ENSP00000534715.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864656.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000864657.1",
"protein_id": "ENSP00000534716.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864657.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000864659.1",
"protein_id": "ENSP00000534718.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864659.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000864660.1",
"protein_id": "ENSP00000534719.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864660.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000864661.1",
"protein_id": "ENSP00000534720.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864661.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000864662.1",
"protein_id": "ENSP00000534721.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864662.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000864663.1",
"protein_id": "ENSP00000534722.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864663.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000864664.1",
"protein_id": "ENSP00000534723.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864664.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000945751.1",
"protein_id": "ENSP00000615810.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945751.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000945753.1",
"protein_id": "ENSP00000615812.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945753.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000945754.1",
"protein_id": "ENSP00000615813.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945754.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000945755.1",
"protein_id": "ENSP00000615814.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945755.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000945756.1",
"protein_id": "ENSP00000615815.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945756.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000945758.1",
"protein_id": "ENSP00000615817.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945758.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000945759.1",
"protein_id": "ENSP00000615818.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945759.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000945761.1",
"protein_id": "ENSP00000615820.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 509,
"cds_start": 982,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945761.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000683426.1",
"protein_id": "ENSP00000507597.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 507,
"cds_start": 982,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683426.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000864658.1",
"protein_id": "ENSP00000534717.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 443,
"cds_start": 982,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864658.1"
},
{
"aa_ref": "G",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp",
"transcript": "ENST00000945760.1",
"protein_id": "ENSP00000615819.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 443,
"cds_start": 982,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945760.1"
},
{
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.790+4363G>T",
"hgvs_p": null,
"transcript": "ENST00000945752.1",
"protein_id": "ENSP00000615811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": null,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945752.1"
},
{
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.790+4363G>T",
"hgvs_p": null,
"transcript": "ENST00000945757.1",
"protein_id": "ENSP00000615816.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": null,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945757.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "c.68-27435G>T",
"hgvs_p": null,
"transcript": "ENST00000933462.1",
"protein_id": "ENSP00000603521.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 110,
"cds_start": null,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933462.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "n.999G>T",
"hgvs_p": null,
"transcript": "ENST00000682690.1",
"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": "ENST00000682690.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "n.982G>T",
"hgvs_p": null,
"transcript": "ENST00000683404.1",
"protein_id": "ENSP00000506824.1",
"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": "ENST00000683404.1"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"hgvs_c": "n.1190G>T",
"hgvs_p": null,
"transcript": "ENST00000684104.1",
"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": "retained_intron",
"feature": "ENST00000684104.1"
}
],
"gene_symbol": "ACVR1",
"gene_hgnc_id": 171,
"dbsnp": "rs387906588",
"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": 0.9587780237197876,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.865,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.971,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.48,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.879,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001105.5",
"gene_symbol": "ACVR1",
"hgnc_id": 171,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.982G>T",
"hgvs_p": "p.Gly328Trp"
}
],
"clinvar_disease": "Progressive myositis ossificans",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Progressive myositis ossificans",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}