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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: 1-175989434-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=175989434&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 175989434,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022457.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1775T>G",
"hgvs_p": "p.Ile592Ser",
"transcript": "NM_022457.7",
"protein_id": "NP_071902.2",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 731,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367669.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022457.7"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1775T>G",
"hgvs_p": "p.Ile592Ser",
"transcript": "ENST00000367669.8",
"protein_id": "ENSP00000356641.3",
"transcript_support_level": 1,
"aa_start": 592,
"aa_end": null,
"aa_length": 731,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022457.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367669.8"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1703T>G",
"hgvs_p": "p.Ile568Ser",
"transcript": "ENST00000308769.12",
"protein_id": "ENSP00000310943.8",
"transcript_support_level": 1,
"aa_start": 568,
"aa_end": null,
"aa_length": 707,
"cds_start": 1703,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308769.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "n.*951T>G",
"hgvs_p": null,
"transcript": "ENST00000367667.5",
"protein_id": "ENSP00000356639.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000367667.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "n.*951T>G",
"hgvs_p": null,
"transcript": "ENST00000367667.5",
"protein_id": "ENSP00000356639.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000367667.5"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1934T>G",
"hgvs_p": "p.Ile645Ser",
"transcript": "ENST00000935470.1",
"protein_id": "ENSP00000605529.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 784,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935470.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1892T>G",
"hgvs_p": "p.Ile631Ser",
"transcript": "ENST00000896361.1",
"protein_id": "ENSP00000566420.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 770,
"cds_start": 1892,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896361.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1880T>G",
"hgvs_p": "p.Ile627Ser",
"transcript": "ENST00000896366.1",
"protein_id": "ENSP00000566425.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 766,
"cds_start": 1880,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896366.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1832T>G",
"hgvs_p": "p.Ile611Ser",
"transcript": "ENST00000896371.1",
"protein_id": "ENSP00000566430.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 750,
"cds_start": 1832,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896371.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1823T>G",
"hgvs_p": "p.Ile608Ser",
"transcript": "ENST00000896378.1",
"protein_id": "ENSP00000566437.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 747,
"cds_start": 1823,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896378.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1820T>G",
"hgvs_p": "p.Ile607Ser",
"transcript": "ENST00000896368.1",
"protein_id": "ENSP00000566427.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 746,
"cds_start": 1820,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896368.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1772T>G",
"hgvs_p": "p.Ile591Ser",
"transcript": "ENST00000935466.1",
"protein_id": "ENSP00000605525.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 730,
"cds_start": 1772,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935466.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1775T>G",
"hgvs_p": "p.Ile592Ser",
"transcript": "ENST00000935468.1",
"protein_id": "ENSP00000605527.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 730,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935468.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1766T>G",
"hgvs_p": "p.Ile589Ser",
"transcript": "ENST00000942110.1",
"protein_id": "ENSP00000612169.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 728,
"cds_start": 1766,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942110.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1763T>G",
"hgvs_p": "p.Ile588Ser",
"transcript": "ENST00000896357.1",
"protein_id": "ENSP00000566416.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 727,
"cds_start": 1763,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896357.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1763T>G",
"hgvs_p": "p.Ile588Ser",
"transcript": "ENST00000896374.1",
"protein_id": "ENSP00000566433.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 727,
"cds_start": 1763,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896374.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1760T>G",
"hgvs_p": "p.Ile587Ser",
"transcript": "ENST00000896373.1",
"protein_id": "ENSP00000566432.1",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 726,
"cds_start": 1760,
"cds_end": null,
"cds_length": 2181,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896373.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1775T>G",
"hgvs_p": "p.Ile592Ser",
"transcript": "ENST00000935471.1",
"protein_id": "ENSP00000605530.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 716,
"cds_start": 1775,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935471.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1715T>G",
"hgvs_p": "p.Ile572Ser",
"transcript": "ENST00000896367.1",
"protein_id": "ENSP00000566426.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 711,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896367.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1706T>G",
"hgvs_p": "p.Ile569Ser",
"transcript": "ENST00000896363.1",
"protein_id": "ENSP00000566422.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 708,
"cds_start": 1706,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896363.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1703T>G",
"hgvs_p": "p.Ile568Ser",
"transcript": "NM_001001740.4",
"protein_id": "NP_001001740.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 707,
"cds_start": 1703,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001740.4"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COP1",
"gene_hgnc_id": 17440,
"hgvs_c": "c.1703T>G",
"hgvs_p": "p.Ile568Ser",
"transcript": "ENST00000896360.1",
"protein_id": "ENSP00000566419.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 707,
"cds_start": 1703,
"cds_end": null,
"cds_length": 2124,
"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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"strand": false,
"consequences": [
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],
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "COP1",
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"dbsnp": "rs749820946",
"frequency_reference_population": 0.000006860094,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000686009,
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"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6770996451377869,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.499,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9476,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.104,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
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"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_022457.7",
"gene_symbol": "COP1",
"hgnc_id": 17440,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1775T>G",
"hgvs_p": "p.Ile592Ser"
}
],
"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
}