← 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: 10-86923631-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=86923631&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 86923631,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000372037.8",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_004329.3",
"protein_id": "NP_004320.2",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 6417,
"mane_select": "ENST00000372037.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "ENST00000372037.8",
"protein_id": "ENSP00000361107.2",
"transcript_support_level": 1,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2079,
"cdna_end": null,
"cdna_length": 6417,
"mane_select": "NM_004329.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1586G>A",
"hgvs_p": "p.Trp529*",
"transcript": "NM_001406559.1",
"protein_id": "NP_001393488.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 557,
"cds_start": 1586,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 2154,
"cdna_end": null,
"cdna_length": 6492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1559G>A",
"hgvs_p": "p.Trp520*",
"transcript": "NM_001406560.1",
"protein_id": "NP_001393489.1",
"transcript_support_level": null,
"aa_start": 520,
"aa_end": null,
"aa_length": 548,
"cds_start": 1559,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 2127,
"cdna_end": null,
"cdna_length": 6465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_001406561.1",
"protein_id": "NP_001393490.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2184,
"cdna_end": null,
"cdna_length": 6522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_001406562.1",
"protein_id": "NP_001393491.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2225,
"cdna_end": null,
"cdna_length": 6563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_001406563.1",
"protein_id": "NP_001393492.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2476,
"cdna_end": null,
"cdna_length": 6814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_001406564.1",
"protein_id": "NP_001393493.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2084,
"cdna_end": null,
"cdna_length": 6422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_001406565.1",
"protein_id": "NP_001393494.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2339,
"cdna_end": null,
"cdna_length": 6677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_001406566.1",
"protein_id": "NP_001393495.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1979,
"cdna_end": null,
"cdna_length": 6317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_001406567.1",
"protein_id": "NP_001393496.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2005,
"cdna_end": null,
"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_001406568.1",
"protein_id": "NP_001393497.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2120,
"cdna_end": null,
"cdna_length": 6458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_001406569.1",
"protein_id": "NP_001393498.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2393,
"cdna_end": null,
"cdna_length": 6731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_001406570.1",
"protein_id": "NP_001393499.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 6546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_001406571.1",
"protein_id": "NP_001393500.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2498,
"cdna_end": null,
"cdna_length": 6836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_001406572.1",
"protein_id": "NP_001393501.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 6766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_001406573.1",
"protein_id": "NP_001393502.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2110,
"cdna_end": null,
"cdna_length": 6448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_001406574.1",
"protein_id": "NP_001393503.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2154,
"cdna_end": null,
"cdna_length": 6492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_001406575.1",
"protein_id": "NP_001393504.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2283,
"cdna_end": null,
"cdna_length": 6621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_001406576.1",
"protein_id": "NP_001393505.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2286,
"cdna_end": null,
"cdna_length": 6624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_001406577.1",
"protein_id": "NP_001393506.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2398,
"cdna_end": null,
"cdna_length": 6736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_001406578.1",
"protein_id": "NP_001393507.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 6709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_001406579.1",
"protein_id": "NP_001393508.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2479,
"cdna_end": null,
"cdna_length": 6817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_001406580.1",
"protein_id": "NP_001393509.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2128,
"cdna_end": null,
"cdna_length": 6466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_001406581.1",
"protein_id": "NP_001393510.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2312,
"cdna_end": null,
"cdna_length": 6650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "NM_001406582.1",
"protein_id": "NP_001393511.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2323,
"cdna_end": null,
"cdna_length": 6661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "ENST00000480152.3",
"protein_id": "ENSP00000483569.2",
"transcript_support_level": 3,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 6347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "ENST00000713672.1",
"protein_id": "ENSP00000518974.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 6157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "ENST00000713675.1",
"protein_id": "ENSP00000518977.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2332,
"cdna_end": null,
"cdna_length": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1505G>A",
"hgvs_p": "p.Trp502*",
"transcript": "NM_001406583.1",
"protein_id": "NP_001393512.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 530,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 6411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Trp476*",
"transcript": "NM_001406584.1",
"protein_id": "NP_001393513.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 504,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1965,
"cdna_end": null,
"cdna_length": 6303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Trp476*",
"transcript": "NM_001406585.1",
"protein_id": "NP_001393514.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 504,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1745,
"cdna_end": null,
"cdna_length": 6083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Trp476*",
"transcript": "NM_001406586.1",
"protein_id": "NP_001393515.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 504,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 6078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Trp476*",
"transcript": "NM_001406587.1",
"protein_id": "NP_001393516.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 504,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 1860,
"cdna_end": null,
"cdna_length": 6198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Trp476*",
"transcript": "NM_001406588.1",
"protein_id": "NP_001393517.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 504,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 2074,
"cdna_end": null,
"cdna_length": 6412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1211G>A",
"hgvs_p": "p.Trp404*",
"transcript": "ENST00000713673.1",
"protein_id": "ENSP00000518975.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 432,
"cds_start": 1211,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1915,
"cdna_end": null,
"cdna_length": 6253,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1169G>A",
"hgvs_p": "p.Trp390*",
"transcript": "NM_001406589.1",
"protein_id": "NP_001393518.1",
"transcript_support_level": null,
"aa_start": 390,
"aa_end": null,
"aa_length": 418,
"cds_start": 1169,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1737,
"cdna_end": null,
"cdna_length": 6075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Trp345*",
"transcript": "ENST00000713670.1",
"protein_id": "ENSP00000518972.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 373,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1122,
"cdna_start": 1816,
"cdna_end": null,
"cdna_length": 6010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*",
"transcript": "XM_047425680.1",
"protein_id": "XP_047281636.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 532,
"cds_start": 1511,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 26451,
"cdna_end": null,
"cdna_length": 30789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1374G>A",
"hgvs_p": "p.Leu458Leu",
"transcript": "ENST00000713669.1",
"protein_id": "ENSP00000518971.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 471,
"cds_start": 1374,
"cds_end": null,
"cds_length": 1416,
"cdna_start": 1958,
"cdna_end": null,
"cdna_length": 3440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "n.1511G>A",
"hgvs_p": null,
"transcript": "ENST00000635816.2",
"protein_id": "ENSP00000489707.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "n.1511G>A",
"hgvs_p": null,
"transcript": "ENST00000636056.2",
"protein_id": "ENSP00000490273.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "n.1511G>A",
"hgvs_p": null,
"transcript": "ENST00000638429.1",
"protein_id": "ENSP00000492290.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "n.*1030G>A",
"hgvs_p": null,
"transcript": "ENST00000713671.1",
"protein_id": "ENSP00000518973.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "n.*922G>A",
"hgvs_p": null,
"transcript": "ENST00000713674.1",
"protein_id": "ENSP00000518976.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "n.2079G>A",
"hgvs_p": null,
"transcript": "NR_176211.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "n.2079G>A",
"hgvs_p": null,
"transcript": "NR_176212.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "n.2079G>A",
"hgvs_p": null,
"transcript": "NR_176213.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "n.*1030G>A",
"hgvs_p": null,
"transcript": "ENST00000713671.1",
"protein_id": "ENSP00000518973.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "n.*922G>A",
"hgvs_p": null,
"transcript": "ENST00000713674.1",
"protein_id": "ENSP00000518976.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"dbsnp": "rs878854664",
"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": 0.6600000262260437,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.08,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Moderate,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000372037.8",
"gene_symbol": "BMPR1A",
"hgnc_id": 1076,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1511G>A",
"hgvs_p": "p.Trp504*"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Juvenile polyposis syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}