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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: 3-49001557-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49001557&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49001557,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_177938.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HTM",
"gene_hgnc_id": 28858,
"hgvs_c": "c.556A>G",
"hgvs_p": "p.Met186Val",
"transcript": "NM_177939.3",
"protein_id": "NP_808808.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 502,
"cds_start": 556,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000383729.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177939.3"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HTM",
"gene_hgnc_id": 28858,
"hgvs_c": "c.556A>G",
"hgvs_p": "p.Met186Val",
"transcript": "ENST00000383729.9",
"protein_id": "ENSP00000373235.4",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 502,
"cds_start": 556,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_177939.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383729.9"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HTM",
"gene_hgnc_id": 28858,
"hgvs_c": "c.556A>G",
"hgvs_p": "p.Met186Val",
"transcript": "ENST00000343546.8",
"protein_id": "ENSP00000341422.4",
"transcript_support_level": 1,
"aa_start": 186,
"aa_end": null,
"aa_length": 563,
"cds_start": 556,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343546.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HTM",
"gene_hgnc_id": 28858,
"hgvs_c": "n.485A>G",
"hgvs_p": null,
"transcript": "ENST00000485210.1",
"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": "ENST00000485210.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HTM",
"gene_hgnc_id": 28858,
"hgvs_c": "c.556A>G",
"hgvs_p": "p.Met186Val",
"transcript": "NM_177938.2",
"protein_id": "NP_808807.2",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 563,
"cds_start": 556,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177938.2"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HTM",
"gene_hgnc_id": 28858,
"hgvs_c": "c.679A>G",
"hgvs_p": "p.Met227Val",
"transcript": "ENST00000867728.1",
"protein_id": "ENSP00000537787.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 543,
"cds_start": 679,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867728.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HTM",
"gene_hgnc_id": 28858,
"hgvs_c": "c.556A>G",
"hgvs_p": "p.Met186Val",
"transcript": "ENST00000867726.1",
"protein_id": "ENSP00000537785.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 531,
"cds_start": 556,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867726.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HTM",
"gene_hgnc_id": 28858,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Met211Val",
"transcript": "ENST00000942776.1",
"protein_id": "ENSP00000612835.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 527,
"cds_start": 631,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942776.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HTM",
"gene_hgnc_id": 28858,
"hgvs_c": "c.556A>G",
"hgvs_p": "p.Met186Val",
"transcript": "ENST00000867727.1",
"protein_id": "ENSP00000537786.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 516,
"cds_start": 556,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867727.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HTM",
"gene_hgnc_id": 28858,
"hgvs_c": "c.556A>G",
"hgvs_p": "p.Met186Val",
"transcript": "ENST00000918330.1",
"protein_id": "ENSP00000588389.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 513,
"cds_start": 556,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918330.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HTM",
"gene_hgnc_id": 28858,
"hgvs_c": "c.556A>G",
"hgvs_p": "p.Met186Val",
"transcript": "ENST00000942775.1",
"protein_id": "ENSP00000612834.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 501,
"cds_start": 556,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942775.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HTM",
"gene_hgnc_id": 28858,
"hgvs_c": "c.556A>G",
"hgvs_p": "p.Met186Val",
"transcript": "ENST00000942778.1",
"protein_id": "ENSP00000612837.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 498,
"cds_start": 556,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942778.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HTM",
"gene_hgnc_id": 28858,
"hgvs_c": "c.556A>G",
"hgvs_p": "p.Met186Val",
"transcript": "ENST00000867725.1",
"protein_id": "ENSP00000537784.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 480,
"cds_start": 556,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867725.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HTM",
"gene_hgnc_id": 28858,
"hgvs_c": "c.556A>G",
"hgvs_p": "p.Met186Val",
"transcript": "ENST00000942774.1",
"protein_id": "ENSP00000612833.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 466,
"cds_start": 556,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942774.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HTM",
"gene_hgnc_id": 28858,
"hgvs_c": "c.556A>G",
"hgvs_p": "p.Met186Val",
"transcript": "ENST00000867729.1",
"protein_id": "ENSP00000537788.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 440,
"cds_start": 556,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867729.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HTM",
"gene_hgnc_id": 28858,
"hgvs_c": "c.556A>G",
"hgvs_p": "p.Met186Val",
"transcript": "ENST00000867730.1",
"protein_id": "ENSP00000537789.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 404,
"cds_start": 556,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867730.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HTM",
"gene_hgnc_id": 28858,
"hgvs_c": "c.556A>G",
"hgvs_p": "p.Met186Val",
"transcript": "ENST00000942777.1",
"protein_id": "ENSP00000612836.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 355,
"cds_start": 556,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942777.1"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HTM",
"gene_hgnc_id": 28858,
"hgvs_c": "c.409A>G",
"hgvs_p": "p.Met137Val",
"transcript": "ENST00000444213.5",
"protein_id": "ENSP00000398554.1",
"transcript_support_level": 4,
"aa_start": 137,
"aa_end": null,
"aa_length": 224,
"cds_start": 409,
"cds_end": null,
"cds_length": 677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444213.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HTM",
"gene_hgnc_id": 28858,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Met28Val",
"transcript": "ENST00000491739.5",
"protein_id": "ENSP00000476303.1",
"transcript_support_level": 3,
"aa_start": 28,
"aa_end": null,
"aa_length": 156,
"cds_start": 82,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491739.5"
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HTM",
"gene_hgnc_id": 28858,
"hgvs_c": "c.556A>G",
"hgvs_p": "p.Met186Val",
"transcript": "XM_047448367.1",
"protein_id": "XP_047304323.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 273,
"cds_start": 556,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448367.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HTM",
"gene_hgnc_id": 28858,
"hgvs_c": "n.430A>G",
"hgvs_p": null,
"transcript": "ENST00000468374.5",
"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,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000468374.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "P4HTM",
"gene_hgnc_id": 28858,
"hgvs_c": "n.905A>G",
"hgvs_p": null,
"transcript": "ENST00000472301.5",
"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,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000472301.5"
},
{
"aa_ref": null,
"aa_alt": null,
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{
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{
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{
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"upstream_gene_variant"
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],
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"computational_score_selected": 0.06206592917442322,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_177938.2",
"gene_symbol": "P4HTM",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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"hgvs_p": "p.Met186Val"
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}