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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: 10-86923693-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=86923693&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 86923693,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_004329.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "NM_004329.3",
"protein_id": "NP_004320.2",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 532,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 6417,
"mane_select": "ENST00000372037.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "ENST00000372037.8",
"protein_id": "ENSP00000361107.2",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 532,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 6417,
"mane_select": "NM_004329.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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": "c.1648G>A",
"hgvs_p": "p.Val550Ile",
"transcript": "NM_001406559.1",
"protein_id": "NP_001393488.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 557,
"cds_start": 1648,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 2216,
"cdna_end": null,
"cdna_length": 6492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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": "c.1621G>A",
"hgvs_p": "p.Val541Ile",
"transcript": "NM_001406560.1",
"protein_id": "NP_001393489.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 548,
"cds_start": 1621,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 2189,
"cdna_end": null,
"cdna_length": 6465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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": "c.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "NM_001406561.1",
"protein_id": "NP_001393490.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 532,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2246,
"cdna_end": null,
"cdna_length": 6522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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": "c.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "NM_001406562.1",
"protein_id": "NP_001393491.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 532,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2287,
"cdna_end": null,
"cdna_length": 6563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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": "c.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "NM_001406563.1",
"protein_id": "NP_001393492.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 532,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2538,
"cdna_end": null,
"cdna_length": 6814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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": "c.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "NM_001406564.1",
"protein_id": "NP_001393493.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 532,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2146,
"cdna_end": null,
"cdna_length": 6422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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": "c.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "NM_001406565.1",
"protein_id": "NP_001393494.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 532,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2401,
"cdna_end": null,
"cdna_length": 6677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "NM_001406566.1",
"protein_id": "NP_001393495.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 532,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 2041,
"cdna_end": null,
"cdna_length": 6317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "NM_001406567.1",
"protein_id": "NP_001393496.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 532,
"cds_start": 1573,
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"cds_length": 1599,
"cdna_start": 2067,
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"cdna_length": 6343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"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.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "NM_001406568.1",
"protein_id": "NP_001393497.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 532,
"cds_start": 1573,
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"cdna_start": 2182,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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": "c.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "NM_001406569.1",
"protein_id": "NP_001393498.1",
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"aa_start": 525,
"aa_end": null,
"aa_length": 532,
"cds_start": 1573,
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"cdna_start": 2455,
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"cdna_length": 6731,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 13,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "NM_001406570.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "NM_001406571.1",
"protein_id": "NP_001393500.1",
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"aa_start": 525,
"aa_end": null,
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"cds_start": 1573,
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"cdna_start": 2560,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 15,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "NM_001406572.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"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.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "NM_001406573.1",
"protein_id": "NP_001393502.1",
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"aa_start": 525,
"aa_end": null,
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"cds_start": 1573,
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"cdna_start": 2172,
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"cdna_length": 6448,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"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.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "NM_001406574.1",
"protein_id": "NP_001393503.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
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"cds_start": 1573,
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"cdna_start": 2216,
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},
{
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"protein_coding": true,
"strand": true,
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],
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"exon_count": 15,
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"gene_symbol": "BMPR1A",
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"hgvs_c": "c.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "NM_001406575.1",
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"feature": null
},
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
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"hgvs_p": "p.Val525Ile",
"transcript": "NM_001406576.1",
"protein_id": "NP_001393505.1",
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"aa_start": 525,
"aa_end": null,
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},
{
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"strand": true,
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],
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"intron_rank": null,
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"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "c.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "NM_001406577.1",
"protein_id": "NP_001393506.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 532,
"cds_start": 1573,
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"cdna_start": 2460,
"cdna_end": null,
"cdna_length": 6736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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": "c.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "NM_001406578.1",
"protein_id": "NP_001393507.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 532,
"cds_start": 1573,
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"cdna_start": 2433,
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"cdna_length": 6709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
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"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "n.2141G>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,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_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.*20G>A",
"hgvs_p": null,
"transcript": "ENST00000713669.1",
"protein_id": "ENSP00000518971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": -4,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
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"cdna_length": 3440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"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.*1092G>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,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
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"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMPR1A",
"gene_hgnc_id": 1076,
"hgvs_c": "n.*984G>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": "rs769233029",
"frequency_reference_population": 0.000008674596,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000889378,
"gnomad_genomes_af": 0.00000656978,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18952366709709167,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.375,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0958,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.66,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004329.3",
"gene_symbol": "BMPR1A",
"hgnc_id": 1076,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1573G>A",
"hgvs_p": "p.Val525Ile"
}
],
"clinvar_disease": "Hereditary cancer-predisposing syndrome,Juvenile polyposis syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 B:1",
"phenotype_combined": "not provided|Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}