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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: 9-127818770-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127818770&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 127818770,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001114753.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1374A>G",
"hgvs_p": "p.Pro458Pro",
"transcript": "NM_001114753.3",
"protein_id": "NP_001108225.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 658,
"cds_start": 1374,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373203.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114753.3"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1374A>G",
"hgvs_p": "p.Pro458Pro",
"transcript": "ENST00000373203.9",
"protein_id": "ENSP00000362299.4",
"transcript_support_level": 1,
"aa_start": 458,
"aa_end": null,
"aa_length": 658,
"cds_start": 1374,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001114753.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373203.9"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1374A>G",
"hgvs_p": "p.Pro458Pro",
"transcript": "ENST00000344849.5",
"protein_id": "ENSP00000341917.3",
"transcript_support_level": 1,
"aa_start": 458,
"aa_end": null,
"aa_length": 625,
"cds_start": 1374,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000344849.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1374A>G",
"hgvs_p": "p.Pro458Pro",
"transcript": "ENST00000714047.1",
"protein_id": "ENSP00000519338.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 698,
"cds_start": 1374,
"cds_end": null,
"cds_length": 2097,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714047.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1374A>G",
"hgvs_p": "p.Pro458Pro",
"transcript": "ENST00000713997.1",
"protein_id": "ENSP00000519287.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 667,
"cds_start": 1374,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713997.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1374A>G",
"hgvs_p": "p.Pro458Pro",
"transcript": "ENST00000886306.1",
"protein_id": "ENSP00000556365.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 666,
"cds_start": 1374,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886306.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1374A>G",
"hgvs_p": "p.Pro458Pro",
"transcript": "ENST00000714082.1",
"protein_id": "ENSP00000519373.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 663,
"cds_start": 1374,
"cds_end": null,
"cds_length": 1992,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714082.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1374A>G",
"hgvs_p": "p.Pro458Pro",
"transcript": "ENST00000942917.1",
"protein_id": "ENSP00000612976.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 658,
"cds_start": 1374,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942917.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1368A>G",
"hgvs_p": "p.Pro456Pro",
"transcript": "ENST00000886304.1",
"protein_id": "ENSP00000556363.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 656,
"cds_start": 1368,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886304.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1350A>G",
"hgvs_p": "p.Pro450Pro",
"transcript": "ENST00000942919.1",
"protein_id": "ENSP00000612978.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 655,
"cds_start": 1350,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942919.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1350A>G",
"hgvs_p": "p.Pro450Pro",
"transcript": "ENST00000714046.1",
"protein_id": "ENSP00000519337.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 650,
"cds_start": 1350,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714046.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1335A>G",
"hgvs_p": "p.Pro445Pro",
"transcript": "ENST00000942922.1",
"protein_id": "ENSP00000612981.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 650,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942922.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1335A>G",
"hgvs_p": "p.Pro445Pro",
"transcript": "ENST00000942918.1",
"protein_id": "ENSP00000612977.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 645,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942918.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1332A>G",
"hgvs_p": "p.Pro444Pro",
"transcript": "ENST00000886305.1",
"protein_id": "ENSP00000556364.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 644,
"cds_start": 1332,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886305.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1374A>G",
"hgvs_p": "p.Pro458Pro",
"transcript": "ENST00000714077.1",
"protein_id": "ENSP00000519368.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 634,
"cds_start": 1374,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714077.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1374A>G",
"hgvs_p": "p.Pro458Pro",
"transcript": "ENST00000714084.1",
"protein_id": "ENSP00000519375.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 632,
"cds_start": 1374,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714084.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1374A>G",
"hgvs_p": "p.Pro458Pro",
"transcript": "NM_000118.4",
"protein_id": "NP_000109.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 625,
"cds_start": 1374,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000118.4"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1275A>G",
"hgvs_p": "p.Pro425Pro",
"transcript": "ENST00000886308.1",
"protein_id": "ENSP00000556367.1",
"transcript_support_level": null,
"aa_start": 425,
"aa_end": null,
"aa_length": 625,
"cds_start": 1275,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886308.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1263A>G",
"hgvs_p": "p.Pro421Pro",
"transcript": "ENST00000886303.1",
"protein_id": "ENSP00000556362.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
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"cds_start": 1263,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886303.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1374A>G",
"hgvs_p": "p.Pro458Pro",
"transcript": "ENST00000942920.1",
"protein_id": "ENSP00000612979.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
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"cds_start": 1374,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942920.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1374A>G",
"hgvs_p": "p.Pro458Pro",
"transcript": "ENST00000942921.1",
"protein_id": "ENSP00000612980.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 612,
"cds_start": 1374,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942921.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"hgvs_c": "c.1197A>G",
"hgvs_p": "p.Pro399Pro",
"transcript": "ENST00000886302.1",
"protein_id": "ENSP00000556361.1",
"transcript_support_level": null,
"aa_start": 399,
"aa_end": null,
"aa_length": 599,
"cds_start": 1197,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886302.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
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"cds_length": null,
"cdna_start": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000714081.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "ENG",
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"hgvs_c": "n.*376A>G",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000714083.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000225032",
"gene_hgnc_id": null,
"hgvs_c": "n.379+59T>C",
"hgvs_p": null,
"transcript": "ENST00000425991.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000425991.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000225032",
"gene_hgnc_id": null,
"hgvs_c": "n.1568+59T>C",
"hgvs_p": null,
"transcript": "ENST00000439298.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"biotype": "pseudogene",
"feature": "ENST00000439298.5"
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "LOC102723566",
"gene_hgnc_id": null,
"hgvs_c": "n.1568+59T>C",
"hgvs_p": null,
"transcript": "NR_136302.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_136302.1"
}
],
"gene_symbol": "ENG",
"gene_hgnc_id": 3349,
"dbsnp": "rs34828244",
"frequency_reference_population": 0.010309157,
"hom_count_reference_population": 128,
"allele_count_reference_population": 16639,
"gnomad_exomes_af": 0.0104826,
"gnomad_genomes_af": 0.00864245,
"gnomad_exomes_ac": 15324,
"gnomad_genomes_ac": 1315,
"gnomad_exomes_homalt": 115,
"gnomad_genomes_homalt": 13,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.788,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001114753.3",
"gene_symbol": "ENG",
"hgnc_id": 3349,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1374A>G",
"hgvs_p": "p.Pro458Pro"
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000439298.5",
"gene_symbol": "ENSG00000225032",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1568+59T>C",
"hgvs_p": null
},
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NR_136302.1",
"gene_symbol": "LOC102723566",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1568+59T>C",
"hgvs_p": null
}
],
"clinvar_disease": " hereditary hemorrhagic, type 1,Cardiovascular phenotype,Hereditary hemorrhagic telangiectasia,Telangiectasia,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:8",
"phenotype_combined": "not specified|Hereditary hemorrhagic telangiectasia|Telangiectasia, hereditary hemorrhagic, type 1|not provided|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}