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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: 13-46073959-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=46073959&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 46073959,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001872.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "NM_001872.5",
"protein_id": "NP_001863.3",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 423,
"cds_start": 505,
"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": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "ENST00000181383.10",
"protein_id": "ENSP00000181383.4",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 423,
"cds_start": 505,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.607G>A",
"hgvs_p": "p.Ala203Thr",
"transcript": "ENST00000882332.1",
"protein_id": "ENSP00000552391.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 457,
"cds_start": 607,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Ala185Thr",
"transcript": "ENST00000882315.1",
"protein_id": "ENSP00000552374.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 439,
"cds_start": 553,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "ENST00000882319.1",
"protein_id": "ENSP00000552378.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 437,
"cds_start": 505,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "ENST00000882325.1",
"protein_id": "ENSP00000552384.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 431,
"cds_start": 529,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.508G>A",
"hgvs_p": "p.Ala170Thr",
"transcript": "ENST00000882322.1",
"protein_id": "ENSP00000552381.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 424,
"cds_start": 508,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "ENST00000882327.1",
"protein_id": "ENSP00000552386.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 421,
"cds_start": 505,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "ENST00000882328.1",
"protein_id": "ENSP00000552387.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 421,
"cds_start": 505,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.490G>A",
"hgvs_p": "p.Ala164Thr",
"transcript": "ENST00000882320.1",
"protein_id": "ENSP00000552379.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 418,
"cds_start": 490,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Ala185Thr",
"transcript": "ENST00000882326.1",
"protein_id": "ENSP00000552385.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 402,
"cds_start": 553,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.529G>A",
"hgvs_p": "p.Ala177Thr",
"transcript": "ENST00000882333.1",
"protein_id": "ENSP00000552392.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 394,
"cds_start": 529,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.403G>A",
"hgvs_p": "p.Ala135Thr",
"transcript": "ENST00000882317.1",
"protein_id": "ENSP00000552376.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 389,
"cds_start": 403,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "NM_001278541.2",
"protein_id": "NP_001265470.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 386,
"cds_start": 505,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "ENST00000439329.5",
"protein_id": "ENSP00000400714.3",
"transcript_support_level": 5,
"aa_start": 169,
"aa_end": null,
"aa_length": 386,
"cds_start": 505,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "ENST00000882334.1",
"protein_id": "ENSP00000552393.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 384,
"cds_start": 505,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.490G>A",
"hgvs_p": "p.Ala164Thr",
"transcript": "ENST00000882331.1",
"protein_id": "ENSP00000552390.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 381,
"cds_start": 490,
"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": "A",
"aa_alt": "T",
"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.304G>A",
"hgvs_p": "p.Ala102Thr",
"transcript": "ENST00000882323.1",
"protein_id": "ENSP00000552382.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 356,
"cds_start": 304,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "ENST00000882321.1",
"protein_id": "ENSP00000552380.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 354,
"cds_start": 505,
"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": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.403G>A",
"hgvs_p": "p.Ala135Thr",
"transcript": "ENST00000882324.1",
"protein_id": "ENSP00000552383.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 352,
"cds_start": 403,
"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": "A",
"aa_alt": "T",
"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.271G>A",
"hgvs_p": "p.Ala91Thr",
"transcript": "ENST00000882318.1",
"protein_id": "ENSP00000552377.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 345,
"cds_start": 271,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882318.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPB2",
"gene_hgnc_id": 2300,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "ENST00000882329.1",
"protein_id": "ENSP00000552388.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 326,
"cds_start": 505,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "pseudogene",
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "CPB2-AS1",
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"hgvs_c": "n.119-20894C>T",
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"transcript": "NR_046226.1",
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"biotype": "pseudogene",
"feature": "NR_046226.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"intron_variant"
],
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"exon_count": 3,
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"gene_symbol": "CPB2-AS1",
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"hgvs_c": "n.119-20894C>T",
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"transcript": "NR_046227.1",
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"biotype": "pseudogene",
"feature": "NR_046227.1"
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],
"gene_symbol": "CPB2",
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"dbsnp": "rs3742264",
"frequency_reference_population": 0.32165015,
"hom_count_reference_population": 83515,
"allele_count_reference_population": 507663,
"gnomad_exomes_af": 0.319388,
"gnomad_genomes_af": 0.342979,
"gnomad_exomes_ac": 455760,
"gnomad_genomes_ac": 51903,
"gnomad_exomes_homalt": 74404,
"gnomad_genomes_homalt": 9111,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0023388266563415527,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.024,
"revel_prediction": "Benign",
"alphamissense_score": 0.065,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.748,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001872.5",
"gene_symbol": "CPB2",
"hgnc_id": 2300,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr"
},
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000606243.7",
"gene_symbol": "CPB2-AS1",
"hgnc_id": 39898,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.166-20894C>T",
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}
],
"clinvar_disease": "CPB2-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "CPB2-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}