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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: 15-80181135-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=80181135&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 80181135,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000137.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Asp386His",
"transcript": "NM_000137.4",
"protein_id": "NP_000128.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 419,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000561421.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000137.4"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Asp386His",
"transcript": "ENST00000561421.6",
"protein_id": "ENSP00000453347.2",
"transcript_support_level": 1,
"aa_start": 386,
"aa_end": null,
"aa_length": 419,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000137.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561421.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "n.3184G>C",
"hgvs_p": null,
"transcript": "ENST00000539156.5",
"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": "ENST00000539156.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1258G>C",
"hgvs_p": "p.Asp420His",
"transcript": "ENST00000874657.1",
"protein_id": "ENSP00000544716.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 453,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874657.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1258G>C",
"hgvs_p": "p.Asp420His",
"transcript": "ENST00000929198.1",
"protein_id": "ENSP00000599257.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 453,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929198.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Asp386His",
"transcript": "NM_001374377.1",
"protein_id": "NP_001361306.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 419,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374377.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Asp386His",
"transcript": "NM_001374380.1",
"protein_id": "NP_001361309.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 419,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374380.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Asp386His",
"transcript": "ENST00000261755.9",
"protein_id": "ENSP00000261755.5",
"transcript_support_level": 5,
"aa_start": 386,
"aa_end": null,
"aa_length": 419,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261755.9"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Asp386His",
"transcript": "ENST00000407106.5",
"protein_id": "ENSP00000385080.1",
"transcript_support_level": 5,
"aa_start": 386,
"aa_end": null,
"aa_length": 419,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407106.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Asp386His",
"transcript": "ENST00000874652.1",
"protein_id": "ENSP00000544711.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 419,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874652.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Asp386His",
"transcript": "ENST00000874653.1",
"protein_id": "ENSP00000544712.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 419,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874653.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Asp386His",
"transcript": "ENST00000874654.1",
"protein_id": "ENSP00000544713.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 419,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874654.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Asp386His",
"transcript": "ENST00000874656.1",
"protein_id": "ENSP00000544715.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 419,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874656.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Asp386His",
"transcript": "ENST00000960159.1",
"protein_id": "ENSP00000630218.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 419,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960159.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Asp386His",
"transcript": "ENST00000960160.1",
"protein_id": "ENSP00000630219.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 419,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960160.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1153G>C",
"hgvs_p": "p.Asp385His",
"transcript": "ENST00000960162.1",
"protein_id": "ENSP00000630221.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 418,
"cds_start": 1153,
"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": "ENST00000960162.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1153G>C",
"hgvs_p": "p.Asp385His",
"transcript": "ENST00000960163.1",
"protein_id": "ENSP00000630222.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 418,
"cds_start": 1153,
"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": "ENST00000960163.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1138G>C",
"hgvs_p": "p.Asp380His",
"transcript": "ENST00000929199.1",
"protein_id": "ENSP00000599258.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 413,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929199.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1090G>C",
"hgvs_p": "p.Asp364His",
"transcript": "ENST00000960164.1",
"protein_id": "ENSP00000630223.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 397,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960164.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1054G>C",
"hgvs_p": "p.Asp352His",
"transcript": "ENST00000874655.1",
"protein_id": "ENSP00000544714.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 385,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874655.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1054G>C",
"hgvs_p": "p.Asp352His",
"transcript": "ENST00000960161.1",
"protein_id": "ENSP00000630220.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 385,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960161.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Asp351His",
"transcript": "ENST00000874658.1",
"protein_id": "ENSP00000544717.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 384,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874658.1"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 12,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "FAH",
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"hgvs_c": "c.1045G>C",
"hgvs_p": "p.Asp349His",
"transcript": "ENST00000874659.1",
"protein_id": "ENSP00000544718.1",
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"aa_start": 349,
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"aa_length": 382,
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"cds_length": 1149,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874659.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 4,
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"gene_symbol": "FAH",
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"hgvs_c": "n.373G>C",
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"transcript": "ENST00000559217.1",
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"transcript_support_level": 2,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000559217.1"
},
{
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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,
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"gene_symbol": "FAH",
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"hgvs_c": "n.2770G>C",
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"transcript": "ENST00000646551.1",
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"aa_length": null,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000646551.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
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"exon_count": 12,
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"gene_symbol": "FAH",
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"hgvs_c": "n.1245G>C",
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"transcript": "ENST00000682012.1",
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"aa_start": null,
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"aa_length": null,
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"biotype": "retained_intron",
"feature": "ENST00000682012.1"
},
{
"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": 4,
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"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "n.*178G>C",
"hgvs_p": null,
"transcript": "ENST00000561353.2",
"protein_id": "ENSP00000454952.1",
"transcript_support_level": 5,
"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,
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"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000561353.2"
}
],
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"dbsnp": "rs1555442402",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9788795709609985,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.983,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8944,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.871,
"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": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000137.4",
"gene_symbol": "FAH",
"hgnc_id": 3579,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Asp386His"
}
],
"clinvar_disease": "Tyrosinemia type I",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Tyrosinemia type I",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}