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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: 19-50417916-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=50417916&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 50417916,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000440232.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3293G>A",
"hgvs_p": "p.Arg1098His",
"transcript": "NM_002691.4",
"protein_id": "NP_002682.2",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3293,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3338,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": "ENST00000440232.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3293G>A",
"hgvs_p": "p.Arg1098His",
"transcript": "ENST00000440232.7",
"protein_id": "ENSP00000406046.1",
"transcript_support_level": 1,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3293,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3338,
"cdna_end": null,
"cdna_length": 3436,
"mane_select": "NM_002691.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3371G>A",
"hgvs_p": "p.Arg1124His",
"transcript": "ENST00000595904.6",
"protein_id": "ENSP00000472445.1",
"transcript_support_level": 1,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1133,
"cds_start": 3371,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 3416,
"cdna_end": null,
"cdna_length": 3514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3293G>A",
"hgvs_p": "p.Arg1098His",
"transcript": "ENST00000599857.7",
"protein_id": "ENSP00000473052.1",
"transcript_support_level": 1,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3293,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3365,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000142539",
"gene_hgnc_id": null,
"hgvs_c": "c.425+647G>A",
"hgvs_p": null,
"transcript": "ENST00000599632.1",
"protein_id": "ENSP00000473233.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 396,
"cds_start": -4,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1265,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3371G>A",
"hgvs_p": "p.Arg1124His",
"transcript": "NM_001308632.1",
"protein_id": "NP_001295561.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1133,
"cds_start": 3371,
"cds_end": null,
"cds_length": 3402,
"cdna_start": 3371,
"cdna_end": null,
"cdna_length": 3473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3299G>A",
"hgvs_p": "p.Arg1100His",
"transcript": "ENST00000644560.2",
"protein_id": "ENSP00000495618.2",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1109,
"cds_start": 3299,
"cds_end": null,
"cds_length": 3330,
"cdna_start": 3299,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3293G>A",
"hgvs_p": "p.Arg1098His",
"transcript": "NM_001256849.1",
"protein_id": "NP_001243778.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3293,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3365,
"cdna_end": null,
"cdna_length": 3467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3293G>A",
"hgvs_p": "p.Arg1098His",
"transcript": "NM_001438212.1",
"protein_id": "NP_001425141.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3293,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3483,
"cdna_end": null,
"cdna_length": 3581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3293G>A",
"hgvs_p": "p.Arg1098His",
"transcript": "NM_001438213.1",
"protein_id": "NP_001425142.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3293,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3464,
"cdna_end": null,
"cdna_length": 3562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3293G>A",
"hgvs_p": "p.Arg1098His",
"transcript": "ENST00000593887.2",
"protein_id": "ENSP00000472607.2",
"transcript_support_level": 5,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3293,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3672,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3293G>A",
"hgvs_p": "p.Arg1098His",
"transcript": "ENST00000601098.6",
"protein_id": "ENSP00000472600.2",
"transcript_support_level": 3,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3293,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3469,
"cdna_end": null,
"cdna_length": 3524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3293G>A",
"hgvs_p": "p.Arg1098His",
"transcript": "ENST00000687454.1",
"protein_id": "ENSP00000510052.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3293,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3357,
"cdna_end": null,
"cdna_length": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3221G>A",
"hgvs_p": "p.Arg1074His",
"transcript": "NM_001438210.1",
"protein_id": "NP_001425139.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3221,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3269,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3221G>A",
"hgvs_p": "p.Arg1074His",
"transcript": "NM_001438211.1",
"protein_id": "NP_001425140.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3221,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3266,
"cdna_end": null,
"cdna_length": 3364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3221G>A",
"hgvs_p": "p.Arg1074His",
"transcript": "ENST00000613923.6",
"protein_id": "ENSP00000481858.2",
"transcript_support_level": 5,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3221,
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"cdna_start": 3282,
"cdna_end": null,
"cdna_length": 3341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3293G>A",
"hgvs_p": "p.Arg1098His",
"transcript": "XM_011527038.2",
"protein_id": "XP_011525340.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3293,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3421,
"cdna_end": null,
"cdna_length": 3523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3293G>A",
"hgvs_p": "p.Arg1098His",
"transcript": "XM_047438947.1",
"protein_id": "XP_047294903.1",
"transcript_support_level": null,
"aa_start": 1098,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3293,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 4285,
"cdna_end": null,
"cdna_length": 4387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3221G>A",
"hgvs_p": "p.Arg1074His",
"transcript": "XM_047438948.1",
"protein_id": "XP_047294904.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3221,
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"cdna_start": 3435,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3221G>A",
"hgvs_p": "p.Arg1074His",
"transcript": "XM_047438949.1",
"protein_id": "XP_047294905.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3221,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 4213,
"cdna_end": null,
"cdna_length": 4315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.3221G>A",
"hgvs_p": "p.Arg1074His",
"transcript": "XM_047438950.1",
"protein_id": "XP_047294906.1",
"transcript_support_level": null,
"aa_start": 1074,
"aa_end": null,
"aa_length": 1083,
"cds_start": 3221,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 3348,
"cdna_end": null,
"cdna_length": 3450,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLD1",
"gene_hgnc_id": 9175,
"hgvs_c": "c.864G>A",
"hgvs_p": "p.Ala288Ala",
"transcript": "ENST00000593981.1",
"protein_id": "ENSP00000469308.1",
"transcript_support_level": 5,
"aa_start": 288,
"aa_end": null,
"aa_length": 289,
"cds_start": 864,
"cds_end": null,
"cds_length": 871,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 873,
"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": "POLD1",
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{
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{
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},
{
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},
{
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"3_prime_UTR_variant"
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}
],
"gene_symbol": "POLD1",
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"dbsnp": "rs878854552",
"frequency_reference_population": 0.000009310976,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000959622,
"gnomad_genomes_af": 0.00000657488,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5201588869094849,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.176,
"revel_prediction": "Benign",
"alphamissense_score": 0.3848,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.508,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000440232.7",
"gene_symbol": "POLD1",
"hgnc_id": 9175,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3293G>A",
"hgvs_p": "p.Arg1098His"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000599632.1",
"gene_symbol": "ENSG00000142539",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.425+647G>A",
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}
],
"clinvar_disease": " 10, susceptibility to,Colorectal cancer,Hereditary cancer-predisposing syndrome,Polymerase proofreading-related adenomatous polyposis,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"phenotype_combined": "Colorectal cancer, susceptibility to, 10|not provided|Hereditary cancer-predisposing syndrome|Polymerase proofreading-related adenomatous polyposis",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}