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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: 17-75757422-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75757422&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75757422,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000213.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.5336T>C",
"hgvs_p": "p.Leu1779Pro",
"transcript": "NM_000213.5",
"protein_id": "NP_000204.3",
"transcript_support_level": null,
"aa_start": 1779,
"aa_end": null,
"aa_length": 1822,
"cds_start": 5336,
"cds_end": null,
"cds_length": 5469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000200181.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000213.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.5336T>C",
"hgvs_p": "p.Leu1779Pro",
"transcript": "ENST00000200181.8",
"protein_id": "ENSP00000200181.3",
"transcript_support_level": 1,
"aa_start": 1779,
"aa_end": null,
"aa_length": 1822,
"cds_start": 5336,
"cds_end": null,
"cds_length": 5469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000213.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000200181.8"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.5285T>C",
"hgvs_p": "p.Leu1762Pro",
"transcript": "ENST00000449880.7",
"protein_id": "ENSP00000400217.2",
"transcript_support_level": 1,
"aa_start": 1762,
"aa_end": null,
"aa_length": 1805,
"cds_start": 5285,
"cds_end": null,
"cds_length": 5418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449880.7"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.5126T>C",
"hgvs_p": "p.Leu1709Pro",
"transcript": "ENST00000450894.7",
"protein_id": "ENSP00000405536.3",
"transcript_support_level": 1,
"aa_start": 1709,
"aa_end": null,
"aa_length": 1752,
"cds_start": 5126,
"cds_end": null,
"cds_length": 5259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450894.7"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.5126T>C",
"hgvs_p": "p.Leu1709Pro",
"transcript": "ENST00000579662.5",
"protein_id": "ENSP00000463651.1",
"transcript_support_level": 1,
"aa_start": 1709,
"aa_end": null,
"aa_length": 1752,
"cds_start": 5126,
"cds_end": null,
"cds_length": 5259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579662.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.5495T>C",
"hgvs_p": "p.Leu1832Pro",
"transcript": "ENST00000864029.1",
"protein_id": "ENSP00000534088.1",
"transcript_support_level": null,
"aa_start": 1832,
"aa_end": null,
"aa_length": 1875,
"cds_start": 5495,
"cds_end": null,
"cds_length": 5628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864029.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.5495T>C",
"hgvs_p": "p.Leu1832Pro",
"transcript": "ENST00000864030.1",
"protein_id": "ENSP00000534089.1",
"transcript_support_level": null,
"aa_start": 1832,
"aa_end": null,
"aa_length": 1875,
"cds_start": 5495,
"cds_end": null,
"cds_length": 5628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864030.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.5450T>C",
"hgvs_p": "p.Leu1817Pro",
"transcript": "ENST00000948792.1",
"protein_id": "ENSP00000618851.1",
"transcript_support_level": null,
"aa_start": 1817,
"aa_end": null,
"aa_length": 1860,
"cds_start": 5450,
"cds_end": null,
"cds_length": 5583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948792.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.5372T>C",
"hgvs_p": "p.Leu1791Pro",
"transcript": "ENST00000864031.1",
"protein_id": "ENSP00000534090.1",
"transcript_support_level": null,
"aa_start": 1791,
"aa_end": null,
"aa_length": 1834,
"cds_start": 5372,
"cds_end": null,
"cds_length": 5505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864031.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.5372T>C",
"hgvs_p": "p.Leu1791Pro",
"transcript": "ENST00000948787.1",
"protein_id": "ENSP00000618846.1",
"transcript_support_level": null,
"aa_start": 1791,
"aa_end": null,
"aa_length": 1834,
"cds_start": 5372,
"cds_end": null,
"cds_length": 5505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948787.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.5336T>C",
"hgvs_p": "p.Leu1779Pro",
"transcript": "ENST00000864028.1",
"protein_id": "ENSP00000534087.1",
"transcript_support_level": null,
"aa_start": 1779,
"aa_end": null,
"aa_length": 1822,
"cds_start": 5336,
"cds_end": null,
"cds_length": 5469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864028.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.5336T>C",
"hgvs_p": "p.Leu1779Pro",
"transcript": "ENST00000864039.1",
"protein_id": "ENSP00000534098.1",
"transcript_support_level": null,
"aa_start": 1779,
"aa_end": null,
"aa_length": 1822,
"cds_start": 5336,
"cds_end": null,
"cds_length": 5469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864039.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.5333T>C",
"hgvs_p": "p.Leu1778Pro",
"transcript": "ENST00000948791.1",
"protein_id": "ENSP00000618850.1",
"transcript_support_level": null,
"aa_start": 1778,
"aa_end": null,
"aa_length": 1821,
"cds_start": 5333,
"cds_end": null,
"cds_length": 5466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948791.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.5312T>C",
"hgvs_p": "p.Leu1771Pro",
"transcript": "ENST00000948790.1",
"protein_id": "ENSP00000618849.1",
"transcript_support_level": null,
"aa_start": 1771,
"aa_end": null,
"aa_length": 1814,
"cds_start": 5312,
"cds_end": null,
"cds_length": 5445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948790.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.5294T>C",
"hgvs_p": "p.Leu1765Pro",
"transcript": "ENST00000864040.1",
"protein_id": "ENSP00000534099.1",
"transcript_support_level": null,
"aa_start": 1765,
"aa_end": null,
"aa_length": 1808,
"cds_start": 5294,
"cds_end": null,
"cds_length": 5427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864040.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.5285T>C",
"hgvs_p": "p.Leu1762Pro",
"transcript": "NM_001005619.2",
"protein_id": "NP_001005619.1",
"transcript_support_level": null,
"aa_start": 1762,
"aa_end": null,
"aa_length": 1805,
"cds_start": 5285,
"cds_end": null,
"cds_length": 5418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005619.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.5285T>C",
"hgvs_p": "p.Leu1762Pro",
"transcript": "ENST00000864027.1",
"protein_id": "ENSP00000534086.1",
"transcript_support_level": null,
"aa_start": 1762,
"aa_end": null,
"aa_length": 1805,
"cds_start": 5285,
"cds_end": null,
"cds_length": 5418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864027.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.5285T>C",
"hgvs_p": "p.Leu1762Pro",
"transcript": "ENST00000864041.1",
"protein_id": "ENSP00000534100.1",
"transcript_support_level": null,
"aa_start": 1762,
"aa_end": null,
"aa_length": 1805,
"cds_start": 5285,
"cds_end": null,
"cds_length": 5418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864041.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.5285T>C",
"hgvs_p": "p.Leu1762Pro",
"transcript": "ENST00000948785.1",
"protein_id": "ENSP00000618844.1",
"transcript_support_level": null,
"aa_start": 1762,
"aa_end": null,
"aa_length": 1805,
"cds_start": 5285,
"cds_end": null,
"cds_length": 5418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948785.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.5285T>C",
"hgvs_p": "p.Leu1762Pro",
"transcript": "ENST00000948793.1",
"protein_id": "ENSP00000618852.1",
"transcript_support_level": null,
"aa_start": 1762,
"aa_end": null,
"aa_length": 1805,
"cds_start": 5285,
"cds_end": null,
"cds_length": 5418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948793.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.5264T>C",
"hgvs_p": "p.Leu1755Pro",
"transcript": "ENST00000864034.1",
"protein_id": "ENSP00000534093.1",
"transcript_support_level": null,
"aa_start": 1755,
"aa_end": null,
"aa_length": 1798,
"cds_start": 5264,
"cds_end": null,
"cds_length": 5397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864034.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.5213T>C",
"hgvs_p": "p.Leu1738Pro",
"transcript": "ENST00000864037.1",
"protein_id": "ENSP00000534096.1",
"transcript_support_level": null,
"aa_start": 1738,
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{
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],
"gene_symbol": "ITGB4",
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"dbsnp": "rs871443",
"frequency_reference_population": 0.74766755,
"hom_count_reference_population": 462348,
"allele_count_reference_population": 1205916,
"gnomad_exomes_af": 0.76022,
"gnomad_genomes_af": 0.627101,
"gnomad_exomes_ac": 1110544,
"gnomad_genomes_ac": 95372,
"gnomad_exomes_homalt": 428423,
"gnomad_genomes_homalt": 33925,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00000272672991741274,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.597,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1958,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.776,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_000213.5",
"gene_symbol": "ITGB4",
"hgnc_id": 6158,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR,AD",
"hgvs_c": "c.5336T>C",
"hgvs_p": "p.Leu1779Pro"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001381985.1",
"gene_symbol": "GALK1",
"hgnc_id": 4118,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*22+612A>G",
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}
],
"clinvar_disease": " localized, non-Herlitz type,Deficiency of galactokinase,Epidermolysis bullosa simplex 1C,Junctional epidermolysis bullosa,Junctional epidermolysis bullosa with pyloric atresia,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:10",
"phenotype_combined": "not specified|Junctional epidermolysis bullosa with pyloric atresia|Deficiency of galactokinase|Epidermolysis bullosa simplex 1C, localized|Junctional epidermolysis bullosa, non-Herlitz type|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}