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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: 3-58508974-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=58508974&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 58508974,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003500.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX2",
"gene_hgnc_id": 120,
"hgvs_c": "c.1902A>C",
"hgvs_p": "p.Leu634Phe",
"transcript": "NM_003500.4",
"protein_id": "NP_003491.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 681,
"cds_start": 1902,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000302819.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003500.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX2",
"gene_hgnc_id": 120,
"hgvs_c": "c.1902A>C",
"hgvs_p": "p.Leu634Phe",
"transcript": "ENST00000302819.10",
"protein_id": "ENSP00000307697.5",
"transcript_support_level": 1,
"aa_start": 634,
"aa_end": null,
"aa_length": 681,
"cds_start": 1902,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003500.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302819.10"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX2",
"gene_hgnc_id": 120,
"hgvs_c": "c.1974A>C",
"hgvs_p": "p.Leu658Phe",
"transcript": "ENST00000900718.1",
"protein_id": "ENSP00000570777.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 705,
"cds_start": 1974,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900718.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX2",
"gene_hgnc_id": 120,
"hgvs_c": "c.1926A>C",
"hgvs_p": "p.Leu642Phe",
"transcript": "ENST00000900721.1",
"protein_id": "ENSP00000570780.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 689,
"cds_start": 1926,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900721.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX2",
"gene_hgnc_id": 120,
"hgvs_c": "c.1902A>C",
"hgvs_p": "p.Leu634Phe",
"transcript": "ENST00000900725.1",
"protein_id": "ENSP00000570784.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 682,
"cds_start": 1902,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900725.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX2",
"gene_hgnc_id": 120,
"hgvs_c": "c.1902A>C",
"hgvs_p": "p.Leu634Phe",
"transcript": "ENST00000900712.1",
"protein_id": "ENSP00000570771.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 681,
"cds_start": 1902,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900712.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX2",
"gene_hgnc_id": 120,
"hgvs_c": "c.1902A>C",
"hgvs_p": "p.Leu634Phe",
"transcript": "ENST00000900713.1",
"protein_id": "ENSP00000570772.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 681,
"cds_start": 1902,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900713.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX2",
"gene_hgnc_id": 120,
"hgvs_c": "c.1902A>C",
"hgvs_p": "p.Leu634Phe",
"transcript": "ENST00000900714.1",
"protein_id": "ENSP00000570773.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 681,
"cds_start": 1902,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900714.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX2",
"gene_hgnc_id": 120,
"hgvs_c": "c.1902A>C",
"hgvs_p": "p.Leu634Phe",
"transcript": "ENST00000900715.1",
"protein_id": "ENSP00000570774.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 681,
"cds_start": 1902,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900715.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX2",
"gene_hgnc_id": 120,
"hgvs_c": "c.1902A>C",
"hgvs_p": "p.Leu634Phe",
"transcript": "ENST00000900717.1",
"protein_id": "ENSP00000570776.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 681,
"cds_start": 1902,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900717.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX2",
"gene_hgnc_id": 120,
"hgvs_c": "c.1902A>C",
"hgvs_p": "p.Leu634Phe",
"transcript": "ENST00000900720.1",
"protein_id": "ENSP00000570779.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 681,
"cds_start": 1902,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900720.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX2",
"gene_hgnc_id": 120,
"hgvs_c": "c.1902A>C",
"hgvs_p": "p.Leu634Phe",
"transcript": "ENST00000900727.1",
"protein_id": "ENSP00000570786.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 681,
"cds_start": 1902,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900727.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX2",
"gene_hgnc_id": 120,
"hgvs_c": "c.1902A>C",
"hgvs_p": "p.Leu634Phe",
"transcript": "ENST00000900732.1",
"protein_id": "ENSP00000570791.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 681,
"cds_start": 1902,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900732.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX2",
"gene_hgnc_id": 120,
"hgvs_c": "c.1869A>C",
"hgvs_p": "p.Leu623Phe",
"transcript": "ENST00000900728.1",
"protein_id": "ENSP00000570787.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 670,
"cds_start": 1869,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900728.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX2",
"gene_hgnc_id": 120,
"hgvs_c": "c.1860A>C",
"hgvs_p": "p.Leu620Phe",
"transcript": "ENST00000459701.6",
"protein_id": "ENSP00000418562.2",
"transcript_support_level": 5,
"aa_start": 620,
"aa_end": null,
"aa_length": 667,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000459701.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX2",
"gene_hgnc_id": 120,
"hgvs_c": "c.1860A>C",
"hgvs_p": "p.Leu620Phe",
"transcript": "ENST00000900722.1",
"protein_id": "ENSP00000570781.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 667,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900722.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX2",
"gene_hgnc_id": 120,
"hgvs_c": "c.1860A>C",
"hgvs_p": "p.Leu620Phe",
"transcript": "ENST00000900724.1",
"protein_id": "ENSP00000570783.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 667,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900724.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX2",
"gene_hgnc_id": 120,
"hgvs_c": "c.1860A>C",
"hgvs_p": "p.Leu620Phe",
"transcript": "ENST00000900729.1",
"protein_id": "ENSP00000570788.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 667,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900729.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX2",
"gene_hgnc_id": 120,
"hgvs_c": "c.1860A>C",
"hgvs_p": "p.Leu620Phe",
"transcript": "ENST00000900730.1",
"protein_id": "ENSP00000570789.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 667,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900730.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX2",
"gene_hgnc_id": 120,
"hgvs_c": "c.1860A>C",
"hgvs_p": "p.Leu620Phe",
"transcript": "ENST00000900731.1",
"protein_id": "ENSP00000570790.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 667,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900731.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX2",
"gene_hgnc_id": 120,
"hgvs_c": "c.1797A>C",
"hgvs_p": "p.Leu599Phe",
"transcript": "ENST00000900726.1",
"protein_id": "ENSP00000570785.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 646,
"cds_start": 1797,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900726.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACOX2",
"gene_hgnc_id": 120,
"hgvs_c": "c.1689A>C",
"hgvs_p": "p.Leu563Phe",
"transcript": "ENST00000943385.1",
"protein_id": "ENSP00000613444.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 610,
"cds_start": 1689,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
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"cdna_length": 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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],
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],
"gene_symbol": "ACOX2",
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"dbsnp": "rs745872186",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342028,
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"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9462206363677979,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.557,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6966,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.065,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_003500.4",
"gene_symbol": "ACOX2",
"hgnc_id": 120,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
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}
],
"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
}