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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: 7-550558-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=550558&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 550558,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002735.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met",
"transcript": "NM_001164760.2",
"protein_id": "NP_001158232.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000537384.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164760.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met",
"transcript": "ENST00000537384.6",
"protein_id": "ENSP00000440449.1",
"transcript_support_level": 5,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001164760.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537384.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met",
"transcript": "ENST00000360274.8",
"protein_id": "ENSP00000353415.4",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360274.8"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met",
"transcript": "ENST00000403562.5",
"protein_id": "ENSP00000385349.1",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403562.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met",
"transcript": "ENST00000406797.5",
"protein_id": "ENSP00000385749.1",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406797.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1111G>A",
"hgvs_p": "p.Val371Met",
"transcript": "ENST00000852410.1",
"protein_id": "ENSP00000522469.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 412,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852410.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met",
"transcript": "NM_001164758.2",
"protein_id": "NP_001158230.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164758.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met",
"transcript": "NM_001164759.1",
"protein_id": "NP_001158231.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164759.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met",
"transcript": "NM_001164761.2",
"protein_id": "NP_001158233.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164761.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met",
"transcript": "NM_001164762.2",
"protein_id": "NP_001158234.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164762.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met",
"transcript": "NM_002735.3",
"protein_id": "NP_002726.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002735.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met",
"transcript": "ENST00000544935.5",
"protein_id": "ENSP00000444487.1",
"transcript_support_level": 5,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544935.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met",
"transcript": "ENST00000852399.1",
"protein_id": "ENSP00000522458.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852399.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met",
"transcript": "ENST00000852400.1",
"protein_id": "ENSP00000522459.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852400.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met",
"transcript": "ENST00000852401.1",
"protein_id": "ENSP00000522460.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852401.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met",
"transcript": "ENST00000852402.1",
"protein_id": "ENSP00000522461.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852402.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met",
"transcript": "ENST00000852403.1",
"protein_id": "ENSP00000522462.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852403.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met",
"transcript": "ENST00000852404.1",
"protein_id": "ENSP00000522463.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852404.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met",
"transcript": "ENST00000852405.1",
"protein_id": "ENSP00000522464.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852405.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met",
"transcript": "ENST00000852406.1",
"protein_id": "ENSP00000522465.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852406.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met",
"transcript": "ENST00000852407.1",
"protein_id": "ENSP00000522466.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852407.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met",
"transcript": "ENST00000852408.1",
"protein_id": "ENSP00000522467.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 381,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1146,
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"aa_end": null,
"aa_length": 326,
"cds_start": 853,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011515446.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Val188Met",
"transcript": "XM_047420609.1",
"protein_id": "XP_047276565.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 229,
"cds_start": 562,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420609.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"hgvs_c": "c.562G>A",
"hgvs_p": "p.Val188Met",
"transcript": "XM_047420610.1",
"protein_id": "XP_047276566.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 229,
"cds_start": 562,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420610.1"
}
],
"gene_symbol": "PRKAR1B",
"gene_hgnc_id": 9390,
"dbsnp": "rs370144226",
"frequency_reference_population": 0.0002563657,
"hom_count_reference_population": 0,
"allele_count_reference_population": 410,
"gnomad_exomes_af": 0.000250833,
"gnomad_genomes_af": 0.000309011,
"gnomad_exomes_ac": 363,
"gnomad_genomes_ac": 47,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2079693078994751,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.78,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.1742,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.29,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.331,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002735.3",
"gene_symbol": "PRKAR1B",
"hgnc_id": 9390,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Val340Met"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}