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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: 16-67660013-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67660013&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67660013,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001082486.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "NM_001082486.2",
"protein_id": "NP_001075955.2",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 458,
"cds_start": 132,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000620761.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001082486.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000620761.6",
"protein_id": "ENSP00000478084.1",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 458,
"cds_start": 132,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001082486.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620761.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000695659.1",
"protein_id": "ENSP00000512089.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 464,
"cds_start": 132,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695659.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.123C>T",
"hgvs_p": "p.Gly41Gly",
"transcript": "NM_022914.3",
"protein_id": "NP_075065.3",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 455,
"cds_start": 123,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022914.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.123C>T",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000219251.13",
"protein_id": "ENSP00000219251.8",
"transcript_support_level": 2,
"aa_start": 41,
"aa_end": null,
"aa_length": 455,
"cds_start": 123,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000219251.13"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000938871.1",
"protein_id": "ENSP00000608930.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 454,
"cds_start": 132,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938871.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000695648.1",
"protein_id": "ENSP00000512081.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 452,
"cds_start": 132,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695648.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000695734.1",
"protein_id": "ENSP00000512127.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 451,
"cds_start": 132,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695734.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.123C>T",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000957226.1",
"protein_id": "ENSP00000627285.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 449,
"cds_start": 123,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957226.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000896207.1",
"protein_id": "ENSP00000566266.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 445,
"cds_start": 132,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896207.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000695694.1",
"protein_id": "ENSP00000512105.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 443,
"cds_start": 132,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695694.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.123C>T",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000602320.1",
"protein_id": "ENSP00000473679.2",
"transcript_support_level": 5,
"aa_start": 41,
"aa_end": null,
"aa_length": 442,
"cds_start": 123,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602320.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "NM_001410884.1",
"protein_id": "NP_001397813.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 429,
"cds_start": 132,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410884.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000695697.1",
"protein_id": "ENSP00000512106.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 429,
"cds_start": 132,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695697.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.123C>T",
"hgvs_p": "p.Gly41Gly",
"transcript": "ENST00000957225.1",
"protein_id": "ENSP00000627284.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 426,
"cds_start": 123,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957225.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000896208.1",
"protein_id": "ENSP00000566267.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 423,
"cds_start": 132,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896208.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000957224.1",
"protein_id": "ENSP00000627283.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 416,
"cds_start": 132,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957224.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000695658.1",
"protein_id": "ENSP00000512088.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 399,
"cds_start": 132,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695658.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000938872.1",
"protein_id": "ENSP00000608931.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 346,
"cds_start": 132,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938872.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000602382.6",
"protein_id": "ENSP00000473313.2",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 334,
"cds_start": 132,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602382.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000695733.1",
"protein_id": "ENSP00000512126.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 305,
"cds_start": 132,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695733.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly",
"transcript": "ENST00000695732.1",
"protein_id": "ENSP00000512125.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 271,
"cds_start": 132,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695732.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
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"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": "nonsense_mediated_decay",
"feature": "ENST00000695712.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.172C>T",
"hgvs_p": null,
"transcript": "XR_429728.4",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_429728.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"hgvs_c": "n.143+109C>T",
"hgvs_p": null,
"transcript": "ENST00000602423.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000602423.1"
}
],
"gene_symbol": "ACD",
"gene_hgnc_id": 25070,
"dbsnp": "rs138527794",
"frequency_reference_population": 0.002275463,
"hom_count_reference_population": 13,
"allele_count_reference_population": 3656,
"gnomad_exomes_af": 0.00232611,
"gnomad_genomes_af": 0.00179195,
"gnomad_exomes_ac": 3383,
"gnomad_genomes_ac": 273,
"gnomad_exomes_homalt": 11,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6399999856948853,
"computational_prediction_selected": "Benign",
"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": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.334,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001082486.2",
"gene_symbol": "ACD",
"hgnc_id": 25070,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.132C>T",
"hgvs_p": "p.Gly44Gly"
}
],
"clinvar_disease": " autosomal dominant 6,Dyskeratosis congenita,Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:4",
"phenotype_combined": "not specified|Dyskeratosis congenita, autosomal dominant 6|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}