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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: X-154420716-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=154420716&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 154420716,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000601016.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253Gln",
"transcript": "NM_000116.5",
"protein_id": "NP_000107.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 292,
"cds_start": 758,
"cds_end": null,
"cds_length": 879,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": "ENST00000601016.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253Gln",
"transcript": "ENST00000601016.6",
"protein_id": "ENSP00000469981.1",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 292,
"cds_start": 758,
"cds_end": null,
"cds_length": 879,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 1906,
"mane_select": "NM_000116.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.722G>A",
"hgvs_p": "p.Arg241Gln",
"transcript": "ENST00000475699.6",
"protein_id": "ENSP00000419854.3",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 280,
"cds_start": 722,
"cds_end": null,
"cds_length": 843,
"cdna_start": 1013,
"cdna_end": null,
"cdna_length": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Arg223Gln",
"transcript": "ENST00000369776.8",
"protein_id": "ENSP00000358791.4",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 262,
"cds_start": 668,
"cds_end": null,
"cds_length": 789,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Arg223Gln",
"transcript": "ENST00000612460.5",
"protein_id": "ENSP00000481037.1",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 262,
"cds_start": 668,
"cds_end": null,
"cds_length": 789,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 1790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.626G>A",
"hgvs_p": "p.Arg209Gln",
"transcript": "ENST00000613002.4",
"protein_id": "ENSP00000478154.1",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 248,
"cds_start": 626,
"cds_end": null,
"cds_length": 747,
"cdna_start": 929,
"cdna_end": null,
"cdna_length": 1485,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "n.640G>A",
"hgvs_p": null,
"transcript": "ENST00000483674.3",
"protein_id": null,
"transcript_support_level": 1,
"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": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.812G>A",
"hgvs_p": "p.Arg271Gln",
"transcript": "NM_001440856.1",
"protein_id": "NP_001427785.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 310,
"cds_start": 812,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 1960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Arg257Gln",
"transcript": "NM_001303465.2",
"protein_id": "NP_001290394.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 296,
"cds_start": 770,
"cds_end": null,
"cds_length": 891,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Arg257Gln",
"transcript": "ENST00000616020.5",
"protein_id": "ENSP00000483636.2",
"transcript_support_level": 5,
"aa_start": 257,
"aa_end": null,
"aa_length": 296,
"cds_start": 770,
"cds_end": null,
"cds_length": 891,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.722G>A",
"hgvs_p": "p.Arg241Gln",
"transcript": "NM_001410698.1",
"protein_id": "NP_001397627.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 280,
"cds_start": 722,
"cds_end": null,
"cds_length": 843,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 1870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Arg239Gln",
"transcript": "NM_181312.4",
"protein_id": "NP_851829.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 278,
"cds_start": 716,
"cds_end": null,
"cds_length": 837,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 1864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.716G>A",
"hgvs_p": "p.Arg239Gln",
"transcript": "ENST00000612012.5",
"protein_id": "ENSP00000482070.2",
"transcript_support_level": 5,
"aa_start": 239,
"aa_end": null,
"aa_length": 278,
"cds_start": 716,
"cds_end": null,
"cds_length": 837,
"cdna_start": 910,
"cdna_end": null,
"cdna_length": 1230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"transcript": "NM_001440857.1",
"protein_id": "NP_001427786.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 266,
"cds_start": 680,
"cds_end": null,
"cds_length": 801,
"cdna_start": 985,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.677G>A",
"hgvs_p": "p.Arg226Gln",
"transcript": "ENST00000652390.1",
"protein_id": "ENSP00000498858.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 265,
"cds_start": 677,
"cds_end": null,
"cds_length": 798,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 1102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Arg223Gln",
"transcript": "NM_181311.4",
"protein_id": "NP_851828.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 262,
"cds_start": 668,
"cds_end": null,
"cds_length": 789,
"cdna_start": 973,
"cdna_end": null,
"cdna_length": 1816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.626G>A",
"hgvs_p": "p.Arg209Gln",
"transcript": "NM_181313.4",
"protein_id": "NP_851830.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 248,
"cds_start": 626,
"cds_end": null,
"cds_length": 747,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Arg184Gln",
"transcript": "ENST00000652358.1",
"protein_id": "ENSP00000498464.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 223,
"cds_start": 551,
"cds_end": null,
"cds_length": 672,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Arg182Gln",
"transcript": "NM_001440858.1",
"protein_id": "NP_001427787.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 221,
"cds_start": 545,
"cds_end": null,
"cds_length": 666,
"cdna_start": 850,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.440G>A",
"hgvs_p": "p.Arg147Gln",
"transcript": "ENST00000652354.1",
"protein_id": "ENSP00000498734.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 186,
"cds_start": 440,
"cds_end": null,
"cds_length": 561,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 1469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.371G>A",
"hgvs_p": "p.Arg124Gln",
"transcript": "ENST00000652644.1",
"protein_id": "ENSP00000498496.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 163,
"cds_start": 371,
"cds_end": null,
"cds_length": 492,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"transcript": "XM_006724837.2",
"protein_id": "XP_006724900.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 305,
"cds_start": 797,
"cds_end": null,
"cds_length": 918,
"cdna_start": 1102,
"cdna_end": null,
"cdna_length": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "c.743G>A",
"hgvs_p": "p.Arg248Gln",
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"aa_length": null,
"cds_start": -4,
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"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": 9,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "n.*486G>A",
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"transcript": "ENST00000615986.4",
"protein_id": "ENSP00000480133.1",
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"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_length": 1900,
"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": 8,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"hgvs_c": "n.*771G>A",
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"transcript": "ENST00000617701.5",
"protein_id": "ENSP00000481645.1",
"transcript_support_level": 3,
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"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TAFAZZIN",
"gene_hgnc_id": 11577,
"dbsnp": "rs782653725",
"frequency_reference_population": 0.000019849524,
"hom_count_reference_population": 6,
"allele_count_reference_population": 24,
"gnomad_exomes_af": 0.0000191223,
"gnomad_genomes_af": 0.0000270512,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5031818151473999,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.622,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1053,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.703,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000601016.6",
"gene_symbol": "TAFAZZIN",
"hgnc_id": 11577,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253Gln"
}
],
"clinvar_disease": "3-Methylglutaconic aciduria type 2,Cardiomyopathy,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"phenotype_combined": "not provided|Cardiomyopathy|3-Methylglutaconic aciduria type 2",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}