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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: 13-46082472-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=46082472&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 46082472,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001872.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ser118Leu",
"transcript": "NM_001872.5",
"protein_id": "NP_001863.3",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 423,
"cds_start": 353,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000181383.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001872.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ser118Leu",
"transcript": "ENST00000181383.10",
"protein_id": "ENSP00000181383.4",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 423,
"cds_start": 353,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001872.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000181383.10"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.455C>T",
"hgvs_p": "p.Ser152Leu",
"transcript": "ENST00000882332.1",
"protein_id": "ENSP00000552391.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 457,
"cds_start": 455,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882332.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Ser134Leu",
"transcript": "ENST00000882315.1",
"protein_id": "ENSP00000552374.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 439,
"cds_start": 401,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882315.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ser118Leu",
"transcript": "ENST00000882319.1",
"protein_id": "ENSP00000552378.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 437,
"cds_start": 353,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882319.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.377C>T",
"hgvs_p": "p.Ser126Leu",
"transcript": "ENST00000882325.1",
"protein_id": "ENSP00000552384.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 431,
"cds_start": 377,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882325.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ser118Leu",
"transcript": "ENST00000882322.1",
"protein_id": "ENSP00000552381.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 424,
"cds_start": 353,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882322.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ser118Leu",
"transcript": "ENST00000882327.1",
"protein_id": "ENSP00000552386.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 421,
"cds_start": 353,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882327.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ser118Leu",
"transcript": "ENST00000882328.1",
"protein_id": "ENSP00000552387.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 421,
"cds_start": 353,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882328.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ser113Leu",
"transcript": "ENST00000882320.1",
"protein_id": "ENSP00000552379.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 418,
"cds_start": 338,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882320.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Ser134Leu",
"transcript": "ENST00000882326.1",
"protein_id": "ENSP00000552385.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 402,
"cds_start": 401,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882326.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.377C>T",
"hgvs_p": "p.Ser126Leu",
"transcript": "ENST00000882333.1",
"protein_id": "ENSP00000552392.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 394,
"cds_start": 377,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882333.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ser118Leu",
"transcript": "ENST00000882317.1",
"protein_id": "ENSP00000552376.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 389,
"cds_start": 353,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882317.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ser118Leu",
"transcript": "NM_001278541.2",
"protein_id": "NP_001265470.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 386,
"cds_start": 353,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278541.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ser118Leu",
"transcript": "ENST00000439329.5",
"protein_id": "ENSP00000400714.3",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 386,
"cds_start": 353,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439329.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ser118Leu",
"transcript": "ENST00000882334.1",
"protein_id": "ENSP00000552393.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 384,
"cds_start": 353,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882334.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Ser113Leu",
"transcript": "ENST00000882331.1",
"protein_id": "ENSP00000552390.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 381,
"cds_start": 338,
"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": "ENST00000882331.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ser51Leu",
"transcript": "ENST00000882323.1",
"protein_id": "ENSP00000552382.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 356,
"cds_start": 152,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882323.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ser118Leu",
"transcript": "ENST00000882321.1",
"protein_id": "ENSP00000552380.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 354,
"cds_start": 353,
"cds_end": null,
"cds_length": 1065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882321.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ser118Leu",
"transcript": "ENST00000882324.1",
"protein_id": "ENSP00000552383.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 352,
"cds_start": 353,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882324.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ser118Leu",
"transcript": "ENST00000882329.1",
"protein_id": "ENSP00000552388.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 326,
"cds_start": 353,
"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": "ENST00000882329.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ser118Leu",
"transcript": "ENST00000674625.1",
"protein_id": "ENSP00000502808.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 207,
"cds_start": 353,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"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": "ENST00000839805.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPB2-AS1",
"gene_hgnc_id": 39898,
"hgvs_c": "n.119-12381G>A",
"hgvs_p": null,
"transcript": "NR_046226.1",
"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": "NR_046226.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CPB2-AS1",
"gene_hgnc_id": 39898,
"hgvs_c": "n.119-12381G>A",
"hgvs_p": null,
"transcript": "NR_046227.1",
"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": "NR_046227.1"
}
],
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"dbsnp": "rs374795711",
"frequency_reference_population": 0.000013007569,
"hom_count_reference_population": 0,
"allele_count_reference_population": 19,
"gnomad_exomes_af": 0.0000130076,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 19,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3199779987335205,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.159,
"revel_prediction": "Benign",
"alphamissense_score": 0.1661,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.176,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.12,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001872.5",
"gene_symbol": "CPB2",
"hgnc_id": 2300,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Ser118Leu"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000606243.7",
"gene_symbol": "CPB2-AS1",
"hgnc_id": 39898,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.166-12381G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}