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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: 1-22086463-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=22086463&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 22086463,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000656825.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42",
"gene_hgnc_id": 1736,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "NM_001791.4",
"protein_id": "NP_001782.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 191,
"cds_start": 203,
"cds_end": null,
"cds_length": 576,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 10503,
"mane_select": "ENST00000656825.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42",
"gene_hgnc_id": 1736,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000656825.1",
"protein_id": "ENSP00000499457.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 191,
"cds_start": 203,
"cds_end": null,
"cds_length": 576,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 10503,
"mane_select": "NM_001791.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42",
"gene_hgnc_id": 1736,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000315554.15",
"protein_id": "ENSP00000314458.8",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 191,
"cds_start": 203,
"cds_end": null,
"cds_length": 576,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 1435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42",
"gene_hgnc_id": 1736,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000344548.8",
"protein_id": "ENSP00000341072.3",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 191,
"cds_start": 203,
"cds_end": null,
"cds_length": 576,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289694",
"gene_hgnc_id": null,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000695856.1",
"protein_id": "ENSP00000512221.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 191,
"cds_start": 203,
"cds_end": null,
"cds_length": 576,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 2181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42",
"gene_hgnc_id": 1736,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "NM_001039802.2",
"protein_id": "NP_001034891.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 191,
"cds_start": 203,
"cds_end": null,
"cds_length": 576,
"cdna_start": 413,
"cdna_end": null,
"cdna_length": 10629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42",
"gene_hgnc_id": 1736,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "NM_044472.3",
"protein_id": "NP_426359.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 191,
"cds_start": 203,
"cds_end": null,
"cds_length": 576,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 1435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42",
"gene_hgnc_id": 1736,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000400259.5",
"protein_id": "ENSP00000383118.1",
"transcript_support_level": 5,
"aa_start": 68,
"aa_end": null,
"aa_length": 191,
"cds_start": 203,
"cds_end": null,
"cds_length": 576,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42",
"gene_hgnc_id": 1736,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000411827.2",
"protein_id": "ENSP00000398327.2",
"transcript_support_level": 3,
"aa_start": 68,
"aa_end": null,
"aa_length": 191,
"cds_start": 203,
"cds_end": null,
"cds_length": 576,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 2825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42",
"gene_hgnc_id": 1736,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000662562.2",
"protein_id": "ENSP00000499612.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 191,
"cds_start": 203,
"cds_end": null,
"cds_length": 576,
"cdna_start": 1213,
"cdna_end": null,
"cdna_length": 2986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42",
"gene_hgnc_id": 1736,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000695796.1",
"protein_id": "ENSP00000512176.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 191,
"cds_start": 203,
"cds_end": null,
"cds_length": 576,
"cdna_start": 1336,
"cdna_end": null,
"cdna_length": 3134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42",
"gene_hgnc_id": 1736,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000695797.1",
"protein_id": "ENSP00000512177.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 191,
"cds_start": 203,
"cds_end": null,
"cds_length": 576,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 2577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42",
"gene_hgnc_id": 1736,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000695798.1",
"protein_id": "ENSP00000512178.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 191,
"cds_start": 203,
"cds_end": null,
"cds_length": 576,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 2824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42",
"gene_hgnc_id": 1736,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000695799.1",
"protein_id": "ENSP00000512179.1",
"transcript_support_level": null,
"aa_start": 68,
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"cds_start": 203,
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"cdna_start": 2164,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "CDC42",
"gene_hgnc_id": 1736,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000695800.1",
"protein_id": "ENSP00000512180.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 191,
"cds_start": 203,
"cds_end": null,
"cds_length": 576,
"cdna_start": 1999,
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"cdna_length": 3797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42",
"gene_hgnc_id": 1736,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000695802.1",
"protein_id": "ENSP00000512182.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289694",
"gene_hgnc_id": null,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000695855.1",
"protein_id": "ENSP00000512220.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 191,
"cds_start": 203,
"cds_end": null,
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"cdna_start": 484,
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"cdna_length": 2384,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42",
"gene_hgnc_id": 1736,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000695857.1",
"protein_id": "ENSP00000512222.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 191,
"cds_start": 203,
"cds_end": null,
"cds_length": 576,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 2351,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42",
"gene_hgnc_id": 1736,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000695860.1",
"protein_id": "ENSP00000512225.1",
"transcript_support_level": null,
"aa_start": 68,
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"cdna_start": 362,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 4,
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"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "CDC42",
"gene_hgnc_id": 1736,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000695801.1",
"protein_id": "ENSP00000512181.1",
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"aa_end": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "CDC42",
"gene_hgnc_id": 1736,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000667384.2",
"protein_id": "ENSP00000499473.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42",
"gene_hgnc_id": 1736,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000695859.1",
"protein_id": "ENSP00000512224.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 166,
"cds_start": 203,
"cds_end": null,
"cds_length": 501,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 6133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDC42",
"gene_hgnc_id": 1736,
"hgvs_c": "c.338G>A",
"hgvs_p": "p.Arg113Gln",
"transcript": "ENST00000652582.1",
"protein_id": "ENSP00000498275.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 155,
"cds_start": 338,
"cds_end": null,
"cds_length": 470,
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],
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"dbsnp": "rs1553196096",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.8870664834976196,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.827,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9973,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.917,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 15,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 15,
"benign_score": 0,
"pathogenic_score": 15,
"criteria": [
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"PM2",
"PP2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000656825.1",
"gene_symbol": "CDC42",
"hgnc_id": 1736,
"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln"
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
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"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000695856.1",
"gene_symbol": "ENSG00000289694",
"hgnc_id": null,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln"
}
],
"clinvar_disease": "Abnormal facial shape,Abnormality of blood and blood-forming tissues,Abnormality of the immune system,Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome,Neurodevelopmental abnormality,Postnatal growth retardation,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4",
"phenotype_combined": "not provided|Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome|Postnatal growth retardation;Abnormal facial shape;Neurodevelopmental abnormality;Abnormality of blood and blood-forming tissues;Abnormality of the immune system",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}