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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: 14-35292544-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=35292544&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 35292544,
"ref": "A",
"alt": "G",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001282232.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Tyr23Cys",
"transcript": "NM_002791.3",
"protein_id": "NP_002782.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 246,
"cds_start": 68,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261479.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002791.3"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Tyr23Cys",
"transcript": "ENST00000261479.9",
"protein_id": "ENSP00000261479.4",
"transcript_support_level": 1,
"aa_start": 23,
"aa_end": null,
"aa_length": 246,
"cds_start": 68,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002791.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261479.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258790",
"gene_hgnc_id": null,
"hgvs_c": "n.*891+13826A>G",
"hgvs_p": null,
"transcript": "ENST00000557565.1",
"protein_id": "ENSP00000454657.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000557565.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.-218A>G",
"hgvs_p": null,
"transcript": "NM_001282232.1",
"protein_id": "NP_001269161.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": null,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282232.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.-75A>G",
"hgvs_p": null,
"transcript": "NM_001282233.1",
"protein_id": "NP_001269162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": null,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282233.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.-218A>G",
"hgvs_p": null,
"transcript": "ENST00000555764.5",
"protein_id": "ENSP00000452566.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": null,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555764.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.-75A>G",
"hgvs_p": null,
"transcript": "ENST00000622405.4",
"protein_id": "ENSP00000479620.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": null,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622405.4"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Tyr23Cys",
"transcript": "ENST00000553809.5",
"protein_id": "ENSP00000452603.1",
"transcript_support_level": 3,
"aa_start": 23,
"aa_end": null,
"aa_length": 252,
"cds_start": 68,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553809.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Tyr23Cys",
"transcript": "ENST00000929332.1",
"protein_id": "ENSP00000599391.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 245,
"cds_start": 68,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929332.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Tyr23Cys",
"transcript": "ENST00000929333.1",
"protein_id": "ENSP00000599392.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 244,
"cds_start": 68,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929333.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Tyr23Cys",
"transcript": "ENST00000929334.1",
"protein_id": "ENSP00000599393.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 244,
"cds_start": 68,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929334.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Tyr23Cys",
"transcript": "ENST00000949003.1",
"protein_id": "ENSP00000619062.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 239,
"cds_start": 68,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949003.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Tyr23Cys",
"transcript": "ENST00000884204.1",
"protein_id": "ENSP00000554263.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 225,
"cds_start": 68,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884204.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Tyr23Cys",
"transcript": "ENST00000556506.1",
"protein_id": "ENSP00000450528.1",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 203,
"cds_start": 68,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556506.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Tyr23Cys",
"transcript": "ENST00000884202.1",
"protein_id": "ENSP00000554261.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 194,
"cds_start": 68,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884202.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Tyr23Cys",
"transcript": "ENST00000884205.1",
"protein_id": "ENSP00000554264.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 187,
"cds_start": 68,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884205.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Tyr23Cys",
"transcript": "ENST00000929335.1",
"protein_id": "ENSP00000599394.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 186,
"cds_start": 68,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929335.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Tyr23Cys",
"transcript": "ENST00000884203.1",
"protein_id": "ENSP00000554262.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 135,
"cds_start": 68,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884203.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Tyr23Cys",
"transcript": "ENST00000627895.2",
"protein_id": "ENSP00000485817.1",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 107,
"cds_start": 68,
"cds_end": null,
"cds_length": 324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627895.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.68A>G",
"hgvs_p": "p.Tyr23Cys",
"transcript": "ENST00000628955.1",
"protein_id": "ENSP00000485776.1",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 67,
"cds_start": 68,
"cds_end": null,
"cds_length": 204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628955.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.-218A>G",
"hgvs_p": null,
"transcript": "NM_001282232.1",
"protein_id": "NP_001269161.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": null,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282232.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6",
"gene_hgnc_id": 9535,
"hgvs_c": "c.-75A>G",
"hgvs_p": null,
"transcript": "NM_001282233.1",
"protein_id": "NP_001269162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": null,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Uncertain_significance",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
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{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AD",
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},
{
"score": 4,
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"criteria": [
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000557565.1",
"gene_symbol": "ENSG00000258790",
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"effects": [
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],
"inheritance_mode": "",
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},
{
"score": 4,
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"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_182666.1",
"gene_symbol": "PRORP-PSMA6",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"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
}