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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: 2-47809195-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=47809195&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 47809195,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000403359.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2518T>C",
"hgvs_p": "p.Ser840Pro",
"transcript": "NM_001190274.2",
"protein_id": "NP_001177203.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 927,
"cds_start": 2518,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 3296,
"cdna_end": null,
"cdna_length": 4760,
"mane_select": "ENST00000403359.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2518T>C",
"hgvs_p": "p.Ser840Pro",
"transcript": "ENST00000403359.8",
"protein_id": "ENSP00000384823.4",
"transcript_support_level": 1,
"aa_start": 840,
"aa_end": null,
"aa_length": 927,
"cds_start": 2518,
"cds_end": null,
"cds_length": 2784,
"cdna_start": 3296,
"cdna_end": null,
"cdna_length": 4760,
"mane_select": "NM_001190274.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2266T>C",
"hgvs_p": "p.Ser756Pro",
"transcript": "ENST00000402508.5",
"protein_id": "ENSP00000385398.1",
"transcript_support_level": 1,
"aa_start": 756,
"aa_end": null,
"aa_length": 843,
"cds_start": 2266,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2380,
"cdna_end": null,
"cdna_length": 3844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2266T>C",
"hgvs_p": "p.Ser756Pro",
"transcript": "ENST00000683894.1",
"protein_id": "ENSP00000507789.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 870,
"cds_start": 2266,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2378,
"cdna_end": null,
"cdna_length": 3906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2266T>C",
"hgvs_p": "p.Ser756Pro",
"transcript": "NM_001374325.1",
"protein_id": "NP_001361254.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 843,
"cds_start": 2266,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2532,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2266T>C",
"hgvs_p": "p.Ser756Pro",
"transcript": "NM_025133.4",
"protein_id": "NP_079409.3",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 843,
"cds_start": 2266,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2380,
"cdna_end": null,
"cdna_length": 3844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2518T>C",
"hgvs_p": "p.Ser840Pro",
"transcript": "XM_005264572.6",
"protein_id": "XP_005264629.1",
"transcript_support_level": null,
"aa_start": 840,
"aa_end": null,
"aa_length": 954,
"cds_start": 2518,
"cds_end": null,
"cds_length": 2865,
"cdna_start": 3296,
"cdna_end": null,
"cdna_length": 4841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2515T>C",
"hgvs_p": "p.Ser839Pro",
"transcript": "XM_005264573.6",
"protein_id": "XP_005264630.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 953,
"cds_start": 2515,
"cds_end": null,
"cds_length": 2862,
"cdna_start": 3293,
"cdna_end": null,
"cdna_length": 4838,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2515T>C",
"hgvs_p": "p.Ser839Pro",
"transcript": "XM_017005015.2",
"protein_id": "XP_016860504.1",
"transcript_support_level": null,
"aa_start": 839,
"aa_end": null,
"aa_length": 926,
"cds_start": 2515,
"cds_end": null,
"cds_length": 2781,
"cdna_start": 3293,
"cdna_end": null,
"cdna_length": 4757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2266T>C",
"hgvs_p": "p.Ser756Pro",
"transcript": "XM_017005016.3",
"protein_id": "XP_016860505.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 870,
"cds_start": 2266,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2532,
"cdna_end": null,
"cdna_length": 4077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2266T>C",
"hgvs_p": "p.Ser756Pro",
"transcript": "XM_047445919.1",
"protein_id": "XP_047301875.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 870,
"cds_start": 2266,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2421,
"cdna_end": null,
"cdna_length": 3966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2263T>C",
"hgvs_p": "p.Ser755Pro",
"transcript": "XM_047445920.1",
"protein_id": "XP_047301876.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 869,
"cds_start": 2263,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 2418,
"cdna_end": null,
"cdna_length": 3963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2266T>C",
"hgvs_p": "p.Ser756Pro",
"transcript": "XM_047445921.1",
"protein_id": "XP_047301877.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 843,
"cds_start": 2266,
"cds_end": null,
"cds_length": 2532,
"cdna_start": 2426,
"cdna_end": null,
"cdna_length": 3890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "c.2263T>C",
"hgvs_p": "p.Ser755Pro",
"transcript": "XM_047445922.1",
"protein_id": "XP_047301878.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 842,
"cds_start": 2263,
"cds_end": null,
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"cdna_start": 2529,
"cdna_end": null,
"cdna_length": 3993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "n.-21T>C",
"hgvs_p": null,
"transcript": "ENST00000434234.5",
"protein_id": "ENSP00000402692.1",
"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": 572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "n.1526T>C",
"hgvs_p": null,
"transcript": "ENST00000465204.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "n.6143T>C",
"hgvs_p": null,
"transcript": "ENST00000681999.1",
"protein_id": null,
"transcript_support_level": null,
"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": 8320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "n.2364T>C",
"hgvs_p": null,
"transcript": "ENST00000682451.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 4706,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "n.2413T>C",
"hgvs_p": null,
"transcript": "ENST00000682975.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "n.5202T>C",
"hgvs_p": null,
"transcript": "ENST00000684085.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "n.483T>C",
"hgvs_p": null,
"transcript": "ENST00000684523.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "n.2626T>C",
"hgvs_p": null,
"transcript": "ENST00000684712.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO11",
"gene_hgnc_id": 13590,
"hgvs_c": "n.-21T>C",
"hgvs_p": null,
"transcript": "ENST00000434234.5",
"protein_id": "ENSP00000402692.1",
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],
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"dbsnp": "rs1553335247",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
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"gnomad_genomes_ac": null,
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"computational_score_selected": 0.892635703086853,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.998,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 5,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000403359.8",
"gene_symbol": "FBXO11",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2518T>C",
"hgvs_p": "p.Ser840Pro"
},
{
"score": 5,
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"pathogenic_score": 5,
"criteria": [
"PM2",
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"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000652107.1",
"gene_symbol": "MSH6",
"hgnc_id": 7329,
"effects": [
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"inheritance_mode": "AD,AR",
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}
],
"clinvar_disease": "Inborn genetic diseases,Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities,Neurodevelopmental disorder,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:2 LP:1 US:1",
"phenotype_combined": "Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities|Inborn genetic diseases|Neurodevelopmental disorder|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}