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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: 17-81844087-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81844087&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 81844087,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_000918.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1452C>T",
"hgvs_p": "p.Leu484Leu",
"transcript": "NM_000918.4",
"protein_id": "NP_000909.2",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 508,
"cds_start": 1452,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000331483.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000918.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1452C>T",
"hgvs_p": "p.Leu484Leu",
"transcript": "ENST00000331483.9",
"protein_id": "ENSP00000327801.4",
"transcript_support_level": 1,
"aa_start": 484,
"aa_end": null,
"aa_length": 508,
"cds_start": 1452,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000918.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331483.9"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1182C>T",
"hgvs_p": "p.Leu394Leu",
"transcript": "ENST00000415593.6",
"protein_id": "ENSP00000388117.2",
"transcript_support_level": 1,
"aa_start": 394,
"aa_end": null,
"aa_length": 418,
"cds_start": 1182,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415593.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "n.1092C>T",
"hgvs_p": null,
"transcript": "ENST00000473021.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000473021.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "n.766C>T",
"hgvs_p": null,
"transcript": "ENST00000476482.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000476482.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "n.1644C>T",
"hgvs_p": null,
"transcript": "ENST00000477607.7",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477607.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1553C>T",
"hgvs_p": "p.Ser518Leu",
"transcript": "ENST00000570907.6",
"protein_id": "ENSP00000461362.2",
"transcript_support_level": 3,
"aa_start": 518,
"aa_end": null,
"aa_length": 537,
"cds_start": 1553,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000570907.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1505C>T",
"hgvs_p": "p.Ser502Leu",
"transcript": "ENST00000680226.1",
"protein_id": "ENSP00000505635.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 521,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680226.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1331C>T",
"hgvs_p": "p.Ser444Leu",
"transcript": "ENST00000576390.6",
"protein_id": "ENSP00000461718.2",
"transcript_support_level": 4,
"aa_start": 444,
"aa_end": null,
"aa_length": 463,
"cds_start": 1331,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576390.6"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1626C>T",
"hgvs_p": "p.Leu542Leu",
"transcript": "ENST00000936208.1",
"protein_id": "ENSP00000606267.1",
"transcript_support_level": null,
"aa_start": 542,
"aa_end": null,
"aa_length": 566,
"cds_start": 1626,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936208.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1599C>T",
"hgvs_p": "p.Leu533Leu",
"transcript": "ENST00000889214.1",
"protein_id": "ENSP00000559273.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 557,
"cds_start": 1599,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889214.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1554C>T",
"hgvs_p": "p.Leu518Leu",
"transcript": "ENST00000680884.1",
"protein_id": "ENSP00000505953.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 542,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680884.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1545C>T",
"hgvs_p": "p.Leu515Leu",
"transcript": "ENST00000889213.1",
"protein_id": "ENSP00000559272.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 539,
"cds_start": 1545,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889213.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1527C>T",
"hgvs_p": "p.Leu509Leu",
"transcript": "ENST00000680191.1",
"protein_id": "ENSP00000506544.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 533,
"cds_start": 1527,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680191.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1488C>T",
"hgvs_p": "p.Leu496Leu",
"transcript": "ENST00000948312.1",
"protein_id": "ENSP00000618371.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 520,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948312.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1488C>T",
"hgvs_p": "p.Leu496Leu",
"transcript": "ENST00000948313.1",
"protein_id": "ENSP00000618372.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 520,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948313.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1401C>T",
"hgvs_p": "p.Leu467Leu",
"transcript": "ENST00000889212.1",
"protein_id": "ENSP00000559271.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 491,
"cds_start": 1401,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889212.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1392C>T",
"hgvs_p": "p.Leu464Leu",
"transcript": "ENST00000680914.1",
"protein_id": "ENSP00000505149.1",
"transcript_support_level": null,
"aa_start": 464,
"aa_end": null,
"aa_length": 488,
"cds_start": 1392,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680914.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1386C>T",
"hgvs_p": "p.Leu462Leu",
"transcript": "ENST00000680593.1",
"protein_id": "ENSP00000505754.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 486,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680593.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1371C>T",
"hgvs_p": "p.Leu457Leu",
"transcript": "ENST00000681693.1",
"protein_id": "ENSP00000505096.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 481,
"cds_start": 1371,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681693.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1365C>T",
"hgvs_p": "p.Leu455Leu",
"transcript": "ENST00000679439.1",
"protein_id": "ENSP00000505377.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 479,
"cds_start": 1365,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679439.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "c.1344C>T",
"hgvs_p": "p.Leu448Leu",
"transcript": "ENST00000574914.2",
"protein_id": "ENSP00000460612.2",
"transcript_support_level": 4,
"aa_start": 448,
"aa_end": null,
"aa_length": 472,
"cds_start": 1344,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"transcript": "ENST00000681031.1",
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"biotype": "nonsense_mediated_decay",
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": 11,
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"exon_count": 11,
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"gene_symbol": "P4HB",
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"transcript": "ENST00000681420.1",
"protein_id": "ENSP00000505993.1",
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"feature": "ENST00000681420.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "P4HB",
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"hgvs_c": "n.*855C>T",
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"transcript": "ENST00000681515.1",
"protein_id": "ENSP00000505872.1",
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"aa_start": null,
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"aa_length": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681515.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "n.*763C>T",
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"transcript": "ENST00000681566.1",
"protein_id": "ENSP00000506218.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681566.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
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"exon_count": 11,
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"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "n.*1267C>T",
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"transcript": "ENST00000681760.1",
"protein_id": "ENSP00000506555.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681760.1"
},
{
"aa_ref": null,
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"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
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"exon_count": 11,
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"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"hgvs_c": "n.*1269C>T",
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"transcript": "ENST00000681933.1",
"protein_id": "ENSP00000504864.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000681933.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "P4HB-AS1",
"gene_hgnc_id": 58201,
"hgvs_c": "n.*129G>A",
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"transcript": "ENST00000576784.1",
"protein_id": null,
"transcript_support_level": 5,
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"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": "ENST00000576784.1"
}
],
"gene_symbol": "P4HB",
"gene_hgnc_id": 8548,
"dbsnp": "rs141296055",
"frequency_reference_population": 0.00003538443,
"hom_count_reference_population": 0,
"allele_count_reference_population": 57,
"gnomad_exomes_af": 0.000032907,
"gnomad_genomes_af": 0.0000591242,
"gnomad_exomes_ac": 48,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.75,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.972,
"phylop100way_prediction": "Benign",
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000918.4",
"gene_symbol": "P4HB",
"hgnc_id": 8548,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1452C>T",
"hgvs_p": "p.Leu484Leu"
},
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000576784.1",
"gene_symbol": "P4HB-AS1",
"hgnc_id": 58201,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*129G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}