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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: 17-75757580-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75757580&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75757580,
"ref": "C",
"alt": "T",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000200181.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_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.*25C>T",
"hgvs_p": null,
"transcript": "NM_000213.5",
"protein_id": "NP_000204.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1822,
"cds_start": -4,
"cds_end": null,
"cds_length": 5469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5896,
"mane_select": "ENST00000200181.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_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.*25C>T",
"hgvs_p": null,
"transcript": "ENST00000200181.8",
"protein_id": "ENSP00000200181.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1822,
"cds_start": -4,
"cds_end": null,
"cds_length": 5469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5896,
"mane_select": "NM_000213.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_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.*25C>T",
"hgvs_p": null,
"transcript": "ENST00000449880.7",
"protein_id": "ENSP00000400217.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1805,
"cds_start": -4,
"cds_end": null,
"cds_length": 5418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_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.*25C>T",
"hgvs_p": null,
"transcript": "ENST00000450894.7",
"protein_id": "ENSP00000405536.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1752,
"cds_start": -4,
"cds_end": null,
"cds_length": 5259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_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.*25C>T",
"hgvs_p": null,
"transcript": "ENST00000579662.5",
"protein_id": "ENSP00000463651.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1752,
"cds_start": -4,
"cds_end": null,
"cds_length": 5259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_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.*25C>T",
"hgvs_p": null,
"transcript": "NM_001005619.2",
"protein_id": "NP_001005619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1805,
"cds_start": -4,
"cds_end": null,
"cds_length": 5418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_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.*25C>T",
"hgvs_p": null,
"transcript": "NM_001005731.3",
"protein_id": "NP_001005731.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1752,
"cds_start": -4,
"cds_end": null,
"cds_length": 5259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_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.*25C>T",
"hgvs_p": null,
"transcript": "NM_001321123.2",
"protein_id": "NP_001308052.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1752,
"cds_start": -4,
"cds_end": null,
"cds_length": 5259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.*25C>T",
"hgvs_p": null,
"transcript": "NM_001438834.1",
"protein_id": "NP_001425763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1702,
"cds_start": -4,
"cds_end": null,
"cds_length": 5109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.*259C>T",
"hgvs_p": null,
"transcript": "ENST00000578318.1",
"protein_id": "ENSP00000462494.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 62,
"cds_start": -4,
"cds_end": null,
"cds_length": 189,
"cdna_start": null,
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"cdna_length": 688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_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.*25C>T",
"hgvs_p": null,
"transcript": "XM_006721866.4",
"protein_id": "XP_006721929.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1910,
"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
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"gene_symbol": "ITGB4",
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"hgvs_c": "c.*25C>T",
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"transcript": "XM_005257309.3",
"protein_id": "XP_005257366.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
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"exon_count": 41,
"intron_rank": null,
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"gene_symbol": "ITGB4",
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"hgvs_c": "c.*25C>T",
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"transcript": "XM_005257311.5",
"protein_id": "XP_005257368.1",
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},
{
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"protein_coding": true,
"strand": true,
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],
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"exon_count": 40,
"intron_rank": null,
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"gene_symbol": "ITGB4",
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"transcript": "XM_047435926.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "ITGB4",
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"hgvs_c": "c.*25C>T",
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"transcript": "XM_006721867.4",
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},
{
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"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 40,
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"exon_count": 40,
"intron_rank": null,
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"gene_symbol": "ITGB4",
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"hgvs_c": "c.*25C>T",
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"protein_id": "XP_006721931.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "ITGB4",
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"hgvs_c": "c.*25C>T",
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"transcript": "XM_011524751.3",
"protein_id": "XP_011523053.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 39,
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"exon_count": 39,
"intron_rank": null,
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"gene_symbol": "ITGB4",
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"hgvs_c": "c.*25C>T",
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"transcript": "XM_006721870.4",
"protein_id": "XP_006721933.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
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"gene_symbol": "ITGB4",
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"hgvs_c": "c.*25C>T",
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"transcript": "XM_047435928.1",
"protein_id": "XP_047291884.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "ITGB4",
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"transcript": "XM_011524752.3",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.*22+454G>A",
"hgvs_p": null,
"transcript": "NM_001381985.1",
"protein_id": "NP_001368914.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "c.*22+454G>A",
"hgvs_p": null,
"transcript": "ENST00000225614.6",
"protein_id": "ENSP00000225614.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 392,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1445,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"hgvs_c": "c.266-46C>T",
"hgvs_p": null,
"transcript": "ENST00000582629.1",
"protein_id": "ENSP00000463788.1",
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GALK1",
"gene_hgnc_id": 4118,
"hgvs_c": "n.254+454G>A",
"hgvs_p": null,
"transcript": "ENST00000589643.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ITGB4",
"gene_hgnc_id": 6158,
"dbsnp": "rs9367",
"frequency_reference_population": 0.7771961,
"hom_count_reference_population": 491937,
"allele_count_reference_population": 1253423,
"gnomad_exomes_af": 0.783727,
"gnomad_genomes_af": 0.714392,
"gnomad_exomes_ac": 1144894,
"gnomad_genomes_ac": 108529,
"gnomad_exomes_homalt": 452015,
"gnomad_genomes_homalt": 39922,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.843,
"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": -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": "ENST00000200181.8",
"gene_symbol": "ITGB4",
"hgnc_id": 6158,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.*25C>T",
"hgvs_p": null
},
{
"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+454G>A",
"hgvs_p": null
}
],
"clinvar_disease": " localized, non-Herlitz type,Deficiency of galactokinase,Epidermolysis bullosa simplex 1C,Junctional epidermolysis bullosa,Junctional epidermolysis bullosa with pyloric atresia,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:7",
"phenotype_combined": "Junctional epidermolysis bullosa with pyloric atresia|Deficiency of galactokinase|Junctional epidermolysis bullosa, non-Herlitz type|Epidermolysis bullosa simplex 1C, localized|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}