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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: 17-67854314-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=67854314&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 67854314,
"ref": "CT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000306378.11",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.989delT",
"hgvs_p": "p.Leu330fs",
"transcript": "NM_182641.4",
"protein_id": "NP_872579.2",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 2920,
"cds_start": 989,
"cds_end": null,
"cds_length": 8763,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 11075,
"mane_select": "ENST00000306378.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.989delT",
"hgvs_p": "p.Leu330fs",
"transcript": "ENST00000306378.11",
"protein_id": "ENSP00000307208.6",
"transcript_support_level": 1,
"aa_start": 330,
"aa_end": null,
"aa_length": 2920,
"cds_start": 989,
"cds_end": null,
"cds_length": 8763,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 11075,
"mane_select": "NM_182641.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.680delT",
"hgvs_p": "p.Leu227fs",
"transcript": "ENST00000342579.8",
"protein_id": "ENSP00000343837.5",
"transcript_support_level": 1,
"aa_start": 227,
"aa_end": null,
"aa_length": 2858,
"cds_start": 680,
"cds_end": null,
"cds_length": 8577,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 10607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.572delT",
"hgvs_p": "p.Leu191fs",
"transcript": "ENST00000424123.7",
"protein_id": "ENSP00000388405.3",
"transcript_support_level": 1,
"aa_start": 191,
"aa_end": null,
"aa_length": 2764,
"cds_start": 572,
"cds_end": null,
"cds_length": 8295,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 8295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.989delT",
"hgvs_p": "p.Leu330fs",
"transcript": "ENST00000582467.2",
"protein_id": "ENSP00000463776.2",
"transcript_support_level": 5,
"aa_start": 330,
"aa_end": null,
"aa_length": 3158,
"cds_start": 989,
"cds_end": null,
"cds_length": 9477,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 11789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.989delT",
"hgvs_p": "p.Leu330fs",
"transcript": "ENST00000321892.8",
"protein_id": "ENSP00000315454.4",
"transcript_support_level": 5,
"aa_start": 330,
"aa_end": null,
"aa_length": 3046,
"cds_start": 989,
"cds_end": null,
"cds_length": 9141,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 11292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.680delT",
"hgvs_p": "p.Leu227fs",
"transcript": "ENST00000644067.1",
"protein_id": "ENSP00000496182.2",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 3001,
"cds_start": 680,
"cds_end": null,
"cds_length": 9006,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 11036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.989delT",
"hgvs_p": "p.Leu330fs",
"transcript": "NM_001439139.1",
"protein_id": "NP_001426068.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 2983,
"cds_start": 989,
"cds_end": null,
"cds_length": 8952,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 11264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.989delT",
"hgvs_p": "p.Leu330fs",
"transcript": "NM_001439140.1",
"protein_id": "NP_001426069.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 2961,
"cds_start": 989,
"cds_end": null,
"cds_length": 8886,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 11198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.989delT",
"hgvs_p": "p.Leu330fs",
"transcript": "NM_001439141.1",
"protein_id": "NP_001426070.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 2952,
"cds_start": 989,
"cds_end": null,
"cds_length": 8859,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 11171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.989delT",
"hgvs_p": "p.Leu330fs",
"transcript": "NM_004459.7",
"protein_id": "NP_004450.3",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 2903,
"cds_start": 989,
"cds_end": null,
"cds_length": 8712,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 11024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.989delT",
"hgvs_p": "p.Leu330fs",
"transcript": "NM_001439142.1",
"protein_id": "NP_001426071.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 2893,
"cds_start": 989,
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"cds_length": 8682,
"cdna_start": 1211,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.989delT",
"hgvs_p": "p.Leu330fs",
"transcript": "NM_001439143.1",
"protein_id": "NP_001426072.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 2840,
"cds_start": 989,
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"cds_length": 8523,
"cdna_start": 1211,
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"cdna_length": 10835,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.989delT",
"hgvs_p": "p.Leu330fs",
"transcript": "NM_001439144.1",
"protein_id": "NP_001426073.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.989delT",
"hgvs_p": "p.Leu330fs",
"transcript": "ENST00000544778.6",
"protein_id": "ENSP00000440854.2",
"transcript_support_level": 5,
"aa_start": 330,
"aa_end": null,
"aa_length": 2456,
"cds_start": 989,
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"cds_length": 7372,
"cdna_start": 1190,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.989delT",
"hgvs_p": "p.Leu330fs",
"transcript": "XM_005257150.4",
"protein_id": "XP_005257207.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.989delT",
"hgvs_p": "p.Leu330fs",
"transcript": "XM_005257151.4",
"protein_id": "XP_005257208.1",
"transcript_support_level": null,
"aa_start": 330,
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"cds_start": 989,
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"cdna_start": 1211,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.989delT",
"hgvs_p": "p.Leu330fs",
"transcript": "XM_011524520.3",
"protein_id": "XP_011522822.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 3157,
"cds_start": 989,
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"cdna_start": 1211,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.989delT",
"hgvs_p": "p.Leu330fs",
"transcript": "XM_005257152.4",
"protein_id": "XP_005257209.1",
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},
{
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"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
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"intron_rank": null,
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"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.989delT",
"hgvs_p": "p.Leu330fs",
"transcript": "XM_005257153.4",
"protein_id": "XP_005257210.1",
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"aa_start": 330,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
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"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.989delT",
"hgvs_p": "p.Leu330fs",
"transcript": "XM_005257154.4",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.989delT",
"hgvs_p": "p.Leu330fs",
"transcript": "XM_005257155.4",
"protein_id": "XP_005257212.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 3095,
"cds_start": 989,
"cds_end": null,
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"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 11600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BPTF",
"gene_hgnc_id": 3581,
"hgvs_c": "c.989delT",
"hgvs_p": "p.Leu330fs",
"transcript": "XM_005257156.4",
"protein_id": "XP_005257213.1",
"transcript_support_level": null,
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}
],
"gene_symbol": "BPTF",
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"dbsnp": "rs1135401778",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 6.271,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
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"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "ENST00000306378.11",
"gene_symbol": "BPTF",
"hgnc_id": 3581,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.989delT",
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}
],
"clinvar_disease": "Expressive language delay,Global developmental delay,Intellectual disability,Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies,Secondary microcephaly",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Intellectual disability|Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies|Secondary microcephaly;Expressive language delay;Global developmental delay",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}