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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: 15-80177544-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=80177544&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 80177544,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_000137.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.921A>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "NM_000137.4",
"protein_id": "NP_000128.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 419,
"cds_start": 921,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 977,
"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": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.921A>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "ENST00000561421.6",
"protein_id": "ENSP00000453347.2",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 419,
"cds_start": 921,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 977,
"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": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "n.2949A>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": 3427,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000539156.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1023A>C",
"hgvs_p": "p.Gly341Gly",
"transcript": "ENST00000874657.1",
"protein_id": "ENSP00000544716.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 453,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 1555,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874657.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.1023A>C",
"hgvs_p": "p.Gly341Gly",
"transcript": "ENST00000929198.1",
"protein_id": "ENSP00000599257.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 453,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 1556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929198.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.921A>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "NM_001374377.1",
"protein_id": "NP_001361306.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 419,
"cds_start": 921,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 2146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374377.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.921A>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "NM_001374380.1",
"protein_id": "NP_001361309.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 419,
"cds_start": 921,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001374380.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.921A>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "ENST00000261755.9",
"protein_id": "ENSP00000261755.5",
"transcript_support_level": 5,
"aa_start": 307,
"aa_end": null,
"aa_length": 419,
"cds_start": 921,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 1471,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261755.9"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.921A>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "ENST00000407106.5",
"protein_id": "ENSP00000385080.1",
"transcript_support_level": 5,
"aa_start": 307,
"aa_end": null,
"aa_length": 419,
"cds_start": 921,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 2152,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407106.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.921A>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "ENST00000874652.1",
"protein_id": "ENSP00000544711.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 419,
"cds_start": 921,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874652.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.921A>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "ENST00000874653.1",
"protein_id": "ENSP00000544712.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 419,
"cds_start": 921,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 979,
"cdna_end": null,
"cdna_length": 1473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874653.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.921A>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "ENST00000874654.1",
"protein_id": "ENSP00000544713.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 419,
"cds_start": 921,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1037,
"cdna_end": null,
"cdna_length": 1521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874654.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.921A>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "ENST00000874656.1",
"protein_id": "ENSP00000544715.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 419,
"cds_start": 921,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 1460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874656.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.921A>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "ENST00000960159.1",
"protein_id": "ENSP00000630218.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 419,
"cds_start": 921,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 1771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960159.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.921A>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "ENST00000960160.1",
"protein_id": "ENSP00000630219.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 419,
"cds_start": 921,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960160.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.918A>C",
"hgvs_p": "p.Gly306Gly",
"transcript": "ENST00000960162.1",
"protein_id": "ENSP00000630221.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 418,
"cds_start": 918,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 1669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960162.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.921A>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "ENST00000960163.1",
"protein_id": "ENSP00000630222.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 418,
"cds_start": 921,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 1473,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960163.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.903A>C",
"hgvs_p": "p.Gly301Gly",
"transcript": "ENST00000929199.1",
"protein_id": "ENSP00000599258.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 413,
"cds_start": 903,
"cds_end": null,
"cds_length": 1242,
"cdna_start": 998,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929199.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.855A>C",
"hgvs_p": "p.Gly285Gly",
"transcript": "ENST00000960164.1",
"protein_id": "ENSP00000630223.1",
"transcript_support_level": null,
"aa_start": 285,
"aa_end": null,
"aa_length": 397,
"cds_start": 855,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 1379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960164.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.921A>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "ENST00000874655.1",
"protein_id": "ENSP00000544714.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 385,
"cds_start": 921,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1015,
"cdna_end": null,
"cdna_length": 1375,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874655.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.921A>C",
"hgvs_p": "p.Gly307Gly",
"transcript": "ENST00000960161.1",
"protein_id": "ENSP00000630220.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 385,
"cds_start": 921,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 1396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960161.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"hgvs_c": "c.816A>C",
"hgvs_p": "p.Gly272Gly",
"transcript": "ENST00000874658.1",
"protein_id": "ENSP00000544717.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 384,
"cds_start": 816,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 887,
"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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],
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"biotype": "retained_intron",
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},
{
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],
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"biotype": "nonsense_mediated_decay",
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},
{
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],
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"gene_symbol": "FAH",
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},
{
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],
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"gene_symbol": "FAH",
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"cdna_length": 1507,
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"biotype": "retained_intron",
"feature": "ENST00000682012.1"
}
],
"gene_symbol": "FAH",
"gene_hgnc_id": 3579,
"dbsnp": "rs76338717",
"frequency_reference_population": 0.0000013683429,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136834,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5699999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.333,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_000137.4",
"gene_symbol": "FAH",
"hgnc_id": 3579,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.921A>C",
"hgvs_p": "p.Gly307Gly"
}
],
"clinvar_disease": "Tyrosinemia type I",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Tyrosinemia type I",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}