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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: 1-24654884-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=24654884&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 24654884,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001366595.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM1",
"gene_hgnc_id": 16638,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Gly357Ala",
"transcript": "NM_005839.4",
"protein_id": "NP_005830.2",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 904,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000323848.14",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005839.4"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM1",
"gene_hgnc_id": 16638,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Gly357Ala",
"transcript": "ENST00000323848.14",
"protein_id": "ENSP00000326261.8",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 904,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005839.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323848.14"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM1",
"gene_hgnc_id": 16638,
"hgvs_c": "c.953G>C",
"hgvs_p": "p.Gly318Ala",
"transcript": "ENST00000596378.1",
"protein_id": "ENSP00000471084.1",
"transcript_support_level": 1,
"aa_start": 318,
"aa_end": null,
"aa_length": 680,
"cds_start": 953,
"cds_end": null,
"cds_length": 2044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596378.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM1",
"gene_hgnc_id": 16638,
"hgvs_c": "c.1124G>C",
"hgvs_p": "p.Gly375Ala",
"transcript": "ENST00000928582.1",
"protein_id": "ENSP00000598641.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 936,
"cds_start": 1124,
"cds_end": null,
"cds_length": 2811,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928582.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM1",
"gene_hgnc_id": 16638,
"hgvs_c": "c.1115G>C",
"hgvs_p": "p.Gly372Ala",
"transcript": "ENST00000874375.1",
"protein_id": "ENSP00000544434.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 933,
"cds_start": 1115,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874375.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM1",
"gene_hgnc_id": 16638,
"hgvs_c": "c.1085G>C",
"hgvs_p": "p.Gly362Ala",
"transcript": "ENST00000928572.1",
"protein_id": "ENSP00000598631.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 923,
"cds_start": 1085,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928572.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM1",
"gene_hgnc_id": 16638,
"hgvs_c": "c.1085G>C",
"hgvs_p": "p.Gly362Ala",
"transcript": "ENST00000874370.1",
"protein_id": "ENSP00000544429.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 922,
"cds_start": 1085,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874370.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM1",
"gene_hgnc_id": 16638,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Gly357Ala",
"transcript": "ENST00000928571.1",
"protein_id": "ENSP00000598630.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 921,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928571.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM1",
"gene_hgnc_id": 16638,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Gly357Ala",
"transcript": "ENST00000928575.1",
"protein_id": "ENSP00000598634.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 920,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928575.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM1",
"gene_hgnc_id": 16638,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Gly357Ala",
"transcript": "ENST00000874376.1",
"protein_id": "ENSP00000544435.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 919,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874376.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM1",
"gene_hgnc_id": 16638,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Gly357Ala",
"transcript": "NM_001366595.1",
"protein_id": "NP_001353524.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 918,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366595.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM1",
"gene_hgnc_id": 16638,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Gly357Ala",
"transcript": "ENST00000705662.1",
"protein_id": "ENSP00000516157.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 918,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000705662.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM1",
"gene_hgnc_id": 16638,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Gly357Ala",
"transcript": "NM_001366569.1",
"protein_id": "NP_001353498.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 917,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366569.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM1",
"gene_hgnc_id": 16638,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Gly357Ala",
"transcript": "ENST00000705663.1",
"protein_id": "ENSP00000516158.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 917,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000705663.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM1",
"gene_hgnc_id": 16638,
"hgvs_c": "c.1067G>C",
"hgvs_p": "p.Gly356Ala",
"transcript": "ENST00000928565.1",
"protein_id": "ENSP00000598624.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 917,
"cds_start": 1067,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928565.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM1",
"gene_hgnc_id": 16638,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Gly357Ala",
"transcript": "NM_001303448.2",
"protein_id": "NP_001290377.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 916,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303448.2"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM1",
"gene_hgnc_id": 16638,
"hgvs_c": "c.1067G>C",
"hgvs_p": "p.Gly356Ala",
"transcript": "ENST00000874372.1",
"protein_id": "ENSP00000544431.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 916,
"cds_start": 1067,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874372.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM1",
"gene_hgnc_id": 16638,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Gly357Ala",
"transcript": "NM_001366575.1",
"protein_id": "NP_001353504.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 915,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366575.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM1",
"gene_hgnc_id": 16638,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Gly357Ala",
"transcript": "ENST00000705682.1",
"protein_id": "ENSP00000516160.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 915,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000705682.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM1",
"gene_hgnc_id": 16638,
"hgvs_c": "c.1067G>C",
"hgvs_p": "p.Gly356Ala",
"transcript": "ENST00000928570.1",
"protein_id": "ENSP00000598629.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 915,
"cds_start": 1067,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928570.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM1",
"gene_hgnc_id": 16638,
"hgvs_c": "c.1058G>C",
"hgvs_p": "p.Gly353Ala",
"transcript": "ENST00000928581.1",
"protein_id": "ENSP00000598640.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 914,
"cds_start": 1058,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928581.1"
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRM1",
"gene_hgnc_id": 16638,
"hgvs_c": "c.1055G>C",
"hgvs_p": "p.Gly352Ala",
"transcript": "ENST00000374389.8",
"protein_id": "ENSP00000363510.3",
"transcript_support_level": 5,
"aa_start": 352,
"aa_end": null,
"aa_length": 913,
"cds_start": 1055,
"cds_end": null,
"cds_length": 2742,
"cdna_start": null,
"cdna_end": null,
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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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],
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{
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{
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],
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"gene_symbol": "SRRM1",
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"biotype": "retained_intron",
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],
"gene_symbol": "SRRM1",
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"dbsnp": "rs758508859",
"frequency_reference_population": 0.0000049565924,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000478835,
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"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30544358491897583,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.205,
"revel_prediction": "Benign",
"alphamissense_score": 0.3787,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.904,
"phylop100way_prediction": "Pathogenic",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001366595.1",
"gene_symbol": "SRRM1",
"hgnc_id": 16638,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Gly357Ala"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}