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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: 19-7647405-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=7647405&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 7647405,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000221283.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "c.1590G>A",
"hgvs_p": "p.Ala530Ala",
"transcript": "NM_006949.4",
"protein_id": "NP_008880.2",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 593,
"cds_start": 1590,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": "ENST00000221283.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "c.1590G>A",
"hgvs_p": "p.Ala530Ala",
"transcript": "ENST00000221283.10",
"protein_id": "ENSP00000221283.4",
"transcript_support_level": 1,
"aa_start": 530,
"aa_end": null,
"aa_length": 593,
"cds_start": 1590,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1630,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": "NM_006949.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "c.1581G>A",
"hgvs_p": "p.Ala527Ala",
"transcript": "ENST00000414284.6",
"protein_id": "ENSP00000409471.1",
"transcript_support_level": 1,
"aa_start": 527,
"aa_end": null,
"aa_length": 590,
"cds_start": 1581,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1604,
"cdna_end": null,
"cdna_length": 1859,
"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": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "n.*338G>A",
"hgvs_p": null,
"transcript": "ENST00000597068.5",
"protein_id": "ENSP00000471327.1",
"transcript_support_level": 1,
"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": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268400",
"gene_hgnc_id": null,
"hgvs_c": "n.*1693G>A",
"hgvs_p": null,
"transcript": "ENST00000698368.1",
"protein_id": "ENSP00000513686.1",
"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": 1975,
"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": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "n.*338G>A",
"hgvs_p": null,
"transcript": "ENST00000597068.5",
"protein_id": "ENSP00000471327.1",
"transcript_support_level": 1,
"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": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268400",
"gene_hgnc_id": null,
"hgvs_c": "n.*1693G>A",
"hgvs_p": null,
"transcript": "ENST00000698368.1",
"protein_id": "ENSP00000513686.1",
"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": 1975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "c.1623G>A",
"hgvs_p": "p.Ala541Ala",
"transcript": "NM_001272034.2",
"protein_id": "NP_001258963.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 604,
"cds_start": 1623,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 1918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "c.1623G>A",
"hgvs_p": "p.Ala541Ala",
"transcript": "ENST00000441779.6",
"protein_id": "ENSP00000413606.2",
"transcript_support_level": 2,
"aa_start": 541,
"aa_end": null,
"aa_length": 604,
"cds_start": 1623,
"cds_end": null,
"cds_length": 1815,
"cdna_start": 1660,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "c.1581G>A",
"hgvs_p": "p.Ala527Ala",
"transcript": "NM_001127396.3",
"protein_id": "NP_001120868.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 590,
"cds_start": 1581,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 1621,
"cdna_end": null,
"cdna_length": 1876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "c.1494G>A",
"hgvs_p": "p.Ala498Ala",
"transcript": "NM_001414484.1",
"protein_id": "NP_001401413.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 561,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1732,
"cdna_end": null,
"cdna_length": 1987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "c.195G>A",
"hgvs_p": "p.Ala65Ala",
"transcript": "ENST00000602355.1",
"protein_id": "ENSP00000473406.1",
"transcript_support_level": 2,
"aa_start": 65,
"aa_end": null,
"aa_length": 128,
"cds_start": 195,
"cds_end": null,
"cds_length": 387,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 716,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "n.1507G>A",
"hgvs_p": null,
"transcript": "ENST00000595800.1",
"protein_id": null,
"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": 1974,
"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": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268400",
"gene_hgnc_id": null,
"hgvs_c": "n.*1544G>A",
"hgvs_p": null,
"transcript": "ENST00000595866.2",
"protein_id": "ENSP00000469553.2",
"transcript_support_level": 5,
"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": 1782,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "n.245G>A",
"hgvs_p": null,
"transcript": "ENST00000599278.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 295,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "n.*143G>A",
"hgvs_p": null,
"transcript": "ENST00000599400.1",
"protein_id": "ENSP00000473040.1",
"transcript_support_level": 5,
"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": 811,
"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": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "n.*781G>A",
"hgvs_p": null,
"transcript": "ENST00000599737.5",
"protein_id": "ENSP00000471585.1",
"transcript_support_level": 5,
"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": 1523,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "n.451G>A",
"hgvs_p": null,
"transcript": "ENST00000601061.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 706,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "n.2740G>A",
"hgvs_p": null,
"transcript": "ENST00000698369.1",
"protein_id": null,
"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": 2812,
"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": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "n.1605G>A",
"hgvs_p": null,
"transcript": "NR_073560.2",
"protein_id": null,
"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": 1860,
"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": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000268400",
"gene_hgnc_id": null,
"hgvs_c": "n.*1544G>A",
"hgvs_p": null,
"transcript": "ENST00000595866.2",
"protein_id": "ENSP00000469553.2",
"transcript_support_level": 5,
"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": 1782,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "n.*143G>A",
"hgvs_p": null,
"transcript": "ENST00000599400.1",
"protein_id": "ENSP00000473040.1",
"transcript_support_level": 5,
"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": 811,
"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": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "n.*781G>A",
"hgvs_p": null,
"transcript": "ENST00000599737.5",
"protein_id": "ENSP00000471585.1",
"transcript_support_level": 5,
"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": 1523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "c.1538+158G>A",
"hgvs_p": null,
"transcript": "ENST00000600702.6",
"protein_id": "ENSP00000471737.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 525,
"cds_start": -4,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"hgvs_c": "n.*603G>A",
"hgvs_p": null,
"transcript": "ENST00000698371.1",
"protein_id": "ENSP00000513688.1",
"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": 1160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STXBP2",
"gene_hgnc_id": 11445,
"dbsnp": "rs61736589",
"frequency_reference_population": 0.0016151664,
"hom_count_reference_population": 35,
"allele_count_reference_population": 2606,
"gnomad_exomes_af": 0.000904073,
"gnomad_genomes_af": 0.00843785,
"gnomad_exomes_ac": 1321,
"gnomad_genomes_ac": 1285,
"gnomad_exomes_homalt": 19,
"gnomad_genomes_homalt": 16,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"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": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.954,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000221283.10",
"gene_symbol": "STXBP2",
"hgnc_id": 11445,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1590G>A",
"hgvs_p": "p.Ala530Ala"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000698368.1",
"gene_symbol": "ENSG00000268400",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*1693G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Autoinflammatory syndrome,Familial hemophagocytic lymphohistiocytosis 5,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:4",
"phenotype_combined": "not specified|Familial hemophagocytic lymphohistiocytosis 5|Autoinflammatory syndrome|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}