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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: 6-158767077-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=158767077&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 158767077,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_003379.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Thr533Met",
"transcript": "NM_001111077.2",
"protein_id": "NP_001104547.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 586,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367075.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001111077.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Thr533Met",
"transcript": "ENST00000367075.4",
"protein_id": "ENSP00000356042.3",
"transcript_support_level": 1,
"aa_start": 533,
"aa_end": null,
"aa_length": 586,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001111077.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367075.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Thr533Met",
"transcript": "ENST00000337147.11",
"protein_id": "ENSP00000338934.7",
"transcript_support_level": 1,
"aa_start": 533,
"aa_end": null,
"aa_length": 586,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337147.11"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Thr579Met",
"transcript": "ENST00000852607.1",
"protein_id": "ENSP00000522666.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 632,
"cds_start": 1736,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852607.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Thr579Met",
"transcript": "ENST00000852609.1",
"protein_id": "ENSP00000522668.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 632,
"cds_start": 1736,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852609.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.1673C>T",
"hgvs_p": "p.Thr558Met",
"transcript": "ENST00000852613.1",
"protein_id": "ENSP00000522672.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 611,
"cds_start": 1673,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852613.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.1673C>T",
"hgvs_p": "p.Thr558Met",
"transcript": "ENST00000923503.1",
"protein_id": "ENSP00000593562.1",
"transcript_support_level": null,
"aa_start": 558,
"aa_end": null,
"aa_length": 611,
"cds_start": 1673,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923503.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.1637C>T",
"hgvs_p": "p.Thr546Met",
"transcript": "ENST00000945664.1",
"protein_id": "ENSP00000615723.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 599,
"cds_start": 1637,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945664.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Thr533Met",
"transcript": "NM_003379.5",
"protein_id": "NP_003370.2",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 586,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003379.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Thr533Met",
"transcript": "ENST00000852605.1",
"protein_id": "ENSP00000522664.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 586,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852605.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Thr533Met",
"transcript": "ENST00000852606.1",
"protein_id": "ENSP00000522665.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 586,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852606.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Thr533Met",
"transcript": "ENST00000923500.1",
"protein_id": "ENSP00000593559.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 586,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923500.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Thr533Met",
"transcript": "ENST00000923502.1",
"protein_id": "ENSP00000593561.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 586,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923502.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.1589C>T",
"hgvs_p": "p.Thr530Met",
"transcript": "ENST00000852603.1",
"protein_id": "ENSP00000522662.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 583,
"cds_start": 1589,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852603.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.1514C>T",
"hgvs_p": "p.Thr505Met",
"transcript": "ENST00000852614.1",
"protein_id": "ENSP00000522673.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 558,
"cds_start": 1514,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852614.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.1514C>T",
"hgvs_p": "p.Thr505Met",
"transcript": "ENST00000923506.1",
"protein_id": "ENSP00000593565.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 558,
"cds_start": 1514,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923506.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.1502C>T",
"hgvs_p": "p.Thr501Met",
"transcript": "ENST00000852604.1",
"protein_id": "ENSP00000522663.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 554,
"cds_start": 1502,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852604.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.1502C>T",
"hgvs_p": "p.Thr501Met",
"transcript": "ENST00000852610.1",
"protein_id": "ENSP00000522669.1",
"transcript_support_level": null,
"aa_start": 501,
"aa_end": null,
"aa_length": 554,
"cds_start": 1502,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852610.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.1451C>T",
"hgvs_p": "p.Thr484Met",
"transcript": "ENST00000852612.1",
"protein_id": "ENSP00000522671.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 537,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852612.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.1451C>T",
"hgvs_p": "p.Thr484Met",
"transcript": "ENST00000945663.1",
"protein_id": "ENSP00000615722.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 537,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945663.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EZR",
"gene_hgnc_id": 12691,
"hgvs_c": "c.1361C>T",
"hgvs_p": "p.Thr454Met",
"transcript": "ENST00000852608.1",
"protein_id": "ENSP00000522667.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 507,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852608.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
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{
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{
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{
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{
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{
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{
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],
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"biotype": "protein_coding",
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],
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"hom_count_reference_population": 1,
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"gnomad_genomes_ac": 42,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09413424134254456,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7440000176429749,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.215,
"revel_prediction": "Benign",
"alphamissense_score": 0.0866,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.278,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.976560654300343,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003379.5",
"gene_symbol": "EZR",
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"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1598C>T",
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},
{
"score": 1,
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"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000852390.1",
"gene_symbol": "SYTL3",
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"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}