← 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: 2-157770384-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=157770384&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ACVR1",
"hgnc_id": 171,
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"inheritance_mode": "AD",
"pathogenic_score": 9,
"score": 9,
"transcript": "NM_001105.5",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5",
"acmg_score": 9,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9868,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.4,
"chr": "2",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Progressive myositis ossificans",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9642226099967957,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3332,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001111067.4",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000434821.7",
"protein_coding": true,
"protein_id": "NP_001104537.1",
"strand": false,
"transcript": "NM_001111067.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3332,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000434821.7",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001111067.4",
"protein_coding": true,
"protein_id": "ENSP00000405004.1",
"strand": false,
"transcript": "ENST00000434821.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3047,
"cdna_start": 1204,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000263640.7",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000263640.3",
"strand": false,
"transcript": "ENST00000263640.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2084,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000410057.6",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387127.2",
"strand": false,
"transcript": "ENST00000410057.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2933,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001105.5",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001096.1",
"strand": false,
"transcript": "NM_001105.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2918,
"cdna_start": 1077,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001347663.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334592.1",
"strand": false,
"transcript": "NM_001347663.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2983,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001347664.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334593.1",
"strand": false,
"transcript": "NM_001347664.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2951,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001347665.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334594.1",
"strand": false,
"transcript": "NM_001347665.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3011,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001347666.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334595.1",
"strand": false,
"transcript": "NM_001347666.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3306,
"cdna_start": 1465,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001347667.2",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001334596.1",
"strand": false,
"transcript": "NM_001347667.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2879,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000409283.6",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387273.2",
"strand": false,
"transcript": "ENST00000409283.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2876,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000424669.6",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400767.2",
"strand": false,
"transcript": "ENST00000424669.6",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2785,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000539637.6",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440091.2",
"strand": false,
"transcript": "ENST00000539637.6",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000672582.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500605.1",
"strand": false,
"transcript": "ENST00000672582.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2912,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000673324.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500109.1",
"strand": false,
"transcript": "ENST00000673324.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3313,
"cdna_start": 1277,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000682025.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507086.1",
"strand": false,
"transcript": "ENST00000682025.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3460,
"cdna_start": 1424,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000682300.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507102.1",
"strand": false,
"transcript": "ENST00000682300.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3009,
"cdna_start": 1166,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000683441.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508189.1",
"strand": false,
"transcript": "ENST00000683441.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3341,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000683487.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507113.1",
"strand": false,
"transcript": "ENST00000683487.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3100,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000683820.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507727.1",
"strand": false,
"transcript": "ENST00000683820.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2921,
"cdna_start": 1095,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000684348.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508136.1",
"strand": false,
"transcript": "ENST00000684348.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2826,
"cdna_start": 983,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000684595.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507730.1",
"strand": false,
"transcript": "ENST00000684595.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3479,
"cdna_start": 1622,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000864651.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534710.1",
"strand": false,
"transcript": "ENST00000864651.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2895,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000864652.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534711.1",
"strand": false,
"transcript": "ENST00000864652.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3239,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000864653.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534712.1",
"strand": false,
"transcript": "ENST00000864653.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2883,
"cdna_start": 845,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000864654.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534713.1",
"strand": false,
"transcript": "ENST00000864654.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3138,
"cdna_start": 1297,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000864655.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534714.1",
"strand": false,
"transcript": "ENST00000864655.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2797,
"cdna_start": 956,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000864656.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534715.1",
"strand": false,
"transcript": "ENST00000864656.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3072,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000864657.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534716.1",
"strand": false,
"transcript": "ENST00000864657.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2956,
"cdna_start": 1115,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000864659.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534718.1",
"strand": false,
"transcript": "ENST00000864659.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000864660.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534719.1",
"strand": false,
"transcript": "ENST00000864660.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000864661.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534720.1",
"strand": false,
"transcript": "ENST00000864661.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2977,
"cdna_start": 1139,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000864662.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534721.1",
"strand": false,
"transcript": "ENST00000864662.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2097,
"cdna_start": 1161,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000864663.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534722.1",
"strand": false,
"transcript": "ENST00000864663.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2877,
"cdna_start": 1036,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000864664.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534723.1",
"strand": false,
"transcript": "ENST00000864664.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3528,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000945751.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615810.1",
"strand": false,
"transcript": "ENST00000945751.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3125,
"cdna_start": 1285,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000945753.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615812.1",
"strand": false,
"transcript": "ENST00000945753.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3371,
"cdna_start": 1533,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000945754.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615813.1",
"strand": false,
"transcript": "ENST00000945754.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2994,
"cdna_start": 1156,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000945755.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615814.1",
"strand": false,
"transcript": "ENST00000945755.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2866,
"cdna_start": 1028,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000945756.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615815.1",
"strand": false,
"transcript": "ENST00000945756.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2671,
"cdna_start": 833,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000945758.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615817.1",
"strand": false,
"transcript": "ENST00000945758.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2956,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000945759.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615818.1",
"strand": false,
"transcript": "ENST00000945759.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 509,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2676,
"cdna_start": 838,
"cds_end": null,
"cds_length": 1530,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000945761.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615820.1",
"strand": false,
"transcript": "ENST00000945761.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 507,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2993,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 1524,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000683426.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507597.1",
"strand": false,
"transcript": "ENST00000683426.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 443,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2639,
"cdna_start": 996,
"cds_end": null,
"cds_length": 1332,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000864658.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534717.1",
"strand": false,
"transcript": "ENST00000864658.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 443,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2655,
"cdna_start": 1020,
"cds_end": null,
"cds_length": 1332,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000945760.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615819.1",
"strand": false,
"transcript": "ENST00000945760.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2875,
"cdna_start": 1508,
"cds_end": null,
"cds_length": 1056,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000945752.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615811.1",
"strand": false,
"transcript": "ENST00000945752.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2489,
"cdna_start": 1129,
"cds_end": null,
"cds_length": 1056,
"cds_start": 774,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000945757.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.774G>C",
"hgvs_p": "p.Arg258Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615816.1",
"strand": false,
"transcript": "ENST00000945757.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 110,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1455,
"cdna_start": null,
"cds_end": null,
"cds_length": 333,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933462.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "c.67+29043G>C",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603521.1",
"strand": false,
"transcript": "ENST00000933462.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2634,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000682690.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "n.791G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000682690.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2997,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000683404.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "n.774G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506824.1",
"strand": false,
"transcript": "ENST00000683404.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2823,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000684104.1",
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"hgvs_c": "n.982G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000684104.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs121912680",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 171,
"gene_symbol": "ACVR1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic",
"phenotype_combined": "Progressive myositis ossificans",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.735,
"pos": 157770384,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.811,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001105.5"
}
]
}