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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: 11-13711946-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=13711946&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 13711946,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000354817.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263*",
"transcript": "NM_032228.6",
"protein_id": "NP_115604.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 515,
"cds_start": 787,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 5266,
"mane_select": "ENST00000354817.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263*",
"transcript": "ENST00000354817.8",
"protein_id": "ENSP00000346874.3",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 515,
"cds_start": 787,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 5266,
"mane_select": "NM_032228.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263*",
"transcript": "NM_001441242.1",
"protein_id": "NP_001428171.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 518,
"cds_start": 787,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 5275,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263*",
"transcript": "ENST00000714156.1",
"protein_id": "ENSP00000519445.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 515,
"cds_start": 787,
"cds_end": null,
"cds_length": 1548,
"cdna_start": 978,
"cdna_end": null,
"cdna_length": 4409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263*",
"transcript": "NM_001441243.1",
"protein_id": "NP_001428172.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 510,
"cds_start": 787,
"cds_end": null,
"cds_length": 1533,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 5251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "c.742C>T",
"hgvs_p": "p.Arg248*",
"transcript": "NM_001441244.1",
"protein_id": "NP_001428173.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 500,
"cds_start": 742,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 5221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "c.742C>T",
"hgvs_p": "p.Arg248*",
"transcript": "ENST00000714157.1",
"protein_id": "ENSP00000519446.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 500,
"cds_start": 742,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 836,
"cdna_end": null,
"cdna_length": 3108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263*",
"transcript": "NM_001441245.1",
"protein_id": "NP_001428174.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 477,
"cds_start": 787,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 5152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263*",
"transcript": "ENST00000714147.1",
"protein_id": "ENSP00000519436.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 477,
"cds_start": 787,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "c.607C>T",
"hgvs_p": "p.Arg203*",
"transcript": "NM_001441246.1",
"protein_id": "NP_001428175.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 455,
"cds_start": 607,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 5086,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263*",
"transcript": "NM_001441247.1",
"protein_id": "NP_001428176.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 435,
"cds_start": 787,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 5026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263*",
"transcript": "XM_047427690.1",
"protein_id": "XP_047283646.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 403,
"cds_start": 787,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 6829,
"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": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "n.787C>T",
"hgvs_p": null,
"transcript": "ENST00000532701.1",
"protein_id": "ENSP00000437111.1",
"transcript_support_level": 2,
"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": 1109,
"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": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "n.787C>T",
"hgvs_p": null,
"transcript": "ENST00000703358.1",
"protein_id": "ENSP00000515269.1",
"transcript_support_level": null,
"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": 2287,
"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": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "n.*533C>T",
"hgvs_p": null,
"transcript": "ENST00000714146.1",
"protein_id": "ENSP00000519435.1",
"transcript_support_level": null,
"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": 2484,
"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": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "n.787C>T",
"hgvs_p": null,
"transcript": "ENST00000714153.1",
"protein_id": "ENSP00000519442.1",
"transcript_support_level": null,
"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": 4602,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "n.787C>T",
"hgvs_p": null,
"transcript": "ENST00000714154.1",
"protein_id": "ENSP00000519443.1",
"transcript_support_level": null,
"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": 4209,
"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": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "n.*489C>T",
"hgvs_p": null,
"transcript": "ENST00000714155.1",
"protein_id": "ENSP00000519444.1",
"transcript_support_level": null,
"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": 1875,
"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": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "n.609C>T",
"hgvs_p": null,
"transcript": "ENST00000714158.1",
"protein_id": "ENSP00000519447.1",
"transcript_support_level": null,
"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": 4187,
"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": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "n.*533C>T",
"hgvs_p": null,
"transcript": "ENST00000714159.1",
"protein_id": "ENSP00000519448.1",
"transcript_support_level": null,
"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": 1854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "n.*533C>T",
"hgvs_p": null,
"transcript": "ENST00000714146.1",
"protein_id": "ENSP00000519435.1",
"transcript_support_level": null,
"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": 2484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "n.*489C>T",
"hgvs_p": null,
"transcript": "ENST00000714155.1",
"protein_id": "ENSP00000519444.1",
"transcript_support_level": null,
"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": 1875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"hgvs_c": "n.*533C>T",
"hgvs_p": null,
"transcript": "ENST00000714159.1",
"protein_id": "ENSP00000519448.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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},
{
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"canonical": false,
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],
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},
{
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"exon_count": 9,
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"gene_symbol": "FAR1",
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"hgvs_c": "c.546-1020C>T",
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"transcript": "NM_001441249.1",
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},
{
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],
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"gene_symbol": "FAR1",
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"hgvs_c": "c.545+3867C>T",
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"transcript": "NM_001441250.1",
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}
],
"gene_symbol": "FAR1",
"gene_hgnc_id": 26222,
"dbsnp": "rs724159962",
"frequency_reference_population": 0.0000013689348,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136893,
"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": 0.6299999952316284,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.63,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.027,
"phylop100way_prediction": "Uncertain_significance",
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000354817.8",
"gene_symbol": "FAR1",
"hgnc_id": 26222,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.787C>T",
"hgvs_p": "p.Arg263*"
}
],
"clinvar_disease": "Fatty acyl-CoA reductase 1 deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Fatty acyl-CoA reductase 1 deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}