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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: 15-80186159-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=80186159&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 80186159,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000137.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Gly404Ser",
"transcript": "NM_000137.4",
"protein_id": "NP_000128.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 419,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 1456,
"mane_select": "ENST00000561421.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000137.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Gly404Ser",
"transcript": "ENST00000561421.6",
"protein_id": "ENSP00000453347.2",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 419,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 1456,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "n.3238G>A",
"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": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000539156.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1312G>A",
"hgvs_p": "p.Gly438Ser",
"transcript": "ENST00000874657.1",
"protein_id": "ENSP00000544716.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 453,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 1555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874657.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1312G>A",
"hgvs_p": "p.Gly438Ser",
"transcript": "ENST00000929198.1",
"protein_id": "ENSP00000599257.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 453,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1382,
"cdna_end": null,
"cdna_length": 1556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929198.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Gly404Ser",
"transcript": "NM_001374377.1",
"protein_id": "NP_001361306.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 419,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 2146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374377.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Gly404Ser",
"transcript": "NM_001374380.1",
"protein_id": "NP_001361309.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 419,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374380.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Gly404Ser",
"transcript": "ENST00000261755.9",
"protein_id": "ENSP00000261755.5",
"transcript_support_level": 5,
"aa_start": 404,
"aa_end": null,
"aa_length": 419,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 1471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261755.9"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Gly404Ser",
"transcript": "ENST00000407106.5",
"protein_id": "ENSP00000385080.1",
"transcript_support_level": 5,
"aa_start": 404,
"aa_end": null,
"aa_length": 419,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 2152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407106.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Gly404Ser",
"transcript": "ENST00000874652.1",
"protein_id": "ENSP00000544711.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 419,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874652.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Gly404Ser",
"transcript": "ENST00000874653.1",
"protein_id": "ENSP00000544712.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 419,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1268,
"cdna_end": null,
"cdna_length": 1473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874653.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Gly404Ser",
"transcript": "ENST00000874654.1",
"protein_id": "ENSP00000544713.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 419,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 1521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874654.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Gly404Ser",
"transcript": "ENST00000874656.1",
"protein_id": "ENSP00000544715.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 419,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 1460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874656.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Gly404Ser",
"transcript": "ENST00000960159.1",
"protein_id": "ENSP00000630218.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 419,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960159.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Gly404Ser",
"transcript": "ENST00000960160.1",
"protein_id": "ENSP00000630219.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 419,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1320,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960160.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Gly403Ser",
"transcript": "ENST00000960162.1",
"protein_id": "ENSP00000630221.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 418,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1474,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960162.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1207G>A",
"hgvs_p": "p.Gly403Ser",
"transcript": "ENST00000960163.1",
"protein_id": "ENSP00000630222.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 418,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 1473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960163.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1192G>A",
"hgvs_p": "p.Gly398Ser",
"transcript": "ENST00000929199.1",
"protein_id": "ENSP00000599258.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 413,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929199.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Gly382Ser",
"transcript": "ENST00000960164.1",
"protein_id": "ENSP00000630223.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 397,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 1379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960164.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Gly370Ser",
"transcript": "ENST00000874655.1",
"protein_id": "ENSP00000544714.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 385,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1202,
"cdna_end": null,
"cdna_length": 1375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874655.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Gly370Ser",
"transcript": "ENST00000960161.1",
"protein_id": "ENSP00000630220.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 385,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 1396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960161.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Gly369Ser",
"transcript": "ENST00000874658.1",
"protein_id": "ENSP00000544717.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 384,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 1349,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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],
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"exon_count": 13,
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"gene_symbol": "FAH",
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"hgvs_c": "c.1099G>A",
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"protein_id": "ENSP00000544718.1",
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"aa_start": 367,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
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"exon_count": 4,
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"gene_symbol": "FAH",
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"transcript": "ENST00000559217.1",
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"biotype": "retained_intron",
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{
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"protein_coding": false,
"strand": true,
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"non_coding_transcript_exon_variant"
],
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"exon_count": 14,
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"gene_symbol": "FAH",
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"transcript": "ENST00000646551.1",
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"feature": "ENST00000646551.1"
},
{
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"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"exon_count": 12,
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"gene_symbol": "FAH",
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"hgvs_c": "n.1299G>A",
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"transcript": "ENST00000682012.1",
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"cdna_length": 1507,
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"biotype": "retained_intron",
"feature": "ENST00000682012.1"
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],
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"dbsnp": "rs1297118863",
"frequency_reference_population": 0.000011152279,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000109451,
"gnomad_genomes_af": 0.0000131428,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.981596827507019,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.974,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3115,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.153,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_000137.4",
"gene_symbol": "FAH",
"hgnc_id": 3579,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1210G>A",
"hgvs_p": "p.Gly404Ser"
}
],
"clinvar_disease": "Tyrosinemia type I,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3 LP:3",
"phenotype_combined": "Tyrosinemia type I|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}