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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: 5-134607051-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=134607051&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 134607051,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_016103.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAR1B",
"gene_hgnc_id": 10535,
"hgvs_c": "c.496A>C",
"hgvs_p": "p.Lys166Gln",
"transcript": "NM_016103.4",
"protein_id": "NP_057187.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 198,
"cds_start": 496,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000402673.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016103.4"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAR1B",
"gene_hgnc_id": 10535,
"hgvs_c": "c.496A>C",
"hgvs_p": "p.Lys166Gln",
"transcript": "ENST00000402673.7",
"protein_id": "ENSP00000385432.2",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 198,
"cds_start": 496,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016103.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402673.7"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAR1B",
"gene_hgnc_id": 10535,
"hgvs_c": "c.496A>C",
"hgvs_p": "p.Lys166Gln",
"transcript": "ENST00000439578.5",
"protein_id": "ENSP00000404997.1",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 198,
"cds_start": 496,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439578.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAR1B",
"gene_hgnc_id": 10535,
"hgvs_c": "c.292A>C",
"hgvs_p": "p.Lys98Gln",
"transcript": "ENST00000507419.5",
"protein_id": "ENSP00000425339.1",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 130,
"cds_start": 292,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507419.5"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAR1B",
"gene_hgnc_id": 10535,
"hgvs_c": "c.616A>C",
"hgvs_p": "p.Lys206Gln",
"transcript": "ENST00000950566.1",
"protein_id": "ENSP00000620625.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 238,
"cds_start": 616,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950566.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAR1B",
"gene_hgnc_id": 10535,
"hgvs_c": "c.589A>C",
"hgvs_p": "p.Lys197Gln",
"transcript": "ENST00000903497.1",
"protein_id": "ENSP00000573556.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 229,
"cds_start": 589,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903497.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAR1B",
"gene_hgnc_id": 10535,
"hgvs_c": "c.589A>C",
"hgvs_p": "p.Lys197Gln",
"transcript": "ENST00000950567.1",
"protein_id": "ENSP00000620626.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 229,
"cds_start": 589,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950567.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAR1B",
"gene_hgnc_id": 10535,
"hgvs_c": "c.496A>C",
"hgvs_p": "p.Lys166Gln",
"transcript": "NM_001033503.3",
"protein_id": "NP_001028675.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 198,
"cds_start": 496,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033503.3"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAR1B",
"gene_hgnc_id": 10535,
"hgvs_c": "c.496A>C",
"hgvs_p": "p.Lys166Gln",
"transcript": "ENST00000903489.1",
"protein_id": "ENSP00000573548.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 198,
"cds_start": 496,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903489.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAR1B",
"gene_hgnc_id": 10535,
"hgvs_c": "c.496A>C",
"hgvs_p": "p.Lys166Gln",
"transcript": "ENST00000903491.1",
"protein_id": "ENSP00000573550.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 198,
"cds_start": 496,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903491.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAR1B",
"gene_hgnc_id": 10535,
"hgvs_c": "c.496A>C",
"hgvs_p": "p.Lys166Gln",
"transcript": "ENST00000903492.1",
"protein_id": "ENSP00000573551.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 198,
"cds_start": 496,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903492.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAR1B",
"gene_hgnc_id": 10535,
"hgvs_c": "c.496A>C",
"hgvs_p": "p.Lys166Gln",
"transcript": "ENST00000903493.1",
"protein_id": "ENSP00000573552.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 198,
"cds_start": 496,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903493.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAR1B",
"gene_hgnc_id": 10535,
"hgvs_c": "c.496A>C",
"hgvs_p": "p.Lys166Gln",
"transcript": "ENST00000903494.1",
"protein_id": "ENSP00000573553.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 198,
"cds_start": 496,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903494.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAR1B",
"gene_hgnc_id": 10535,
"hgvs_c": "c.496A>C",
"hgvs_p": "p.Lys166Gln",
"transcript": "ENST00000903495.1",
"protein_id": "ENSP00000573554.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 198,
"cds_start": 496,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903495.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAR1B",
"gene_hgnc_id": 10535,
"hgvs_c": "c.496A>C",
"hgvs_p": "p.Lys166Gln",
"transcript": "ENST00000903496.1",
"protein_id": "ENSP00000573555.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 198,
"cds_start": 496,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903496.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAR1B",
"gene_hgnc_id": 10535,
"hgvs_c": "c.496A>C",
"hgvs_p": "p.Lys166Gln",
"transcript": "ENST00000903498.1",
"protein_id": "ENSP00000573557.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 198,
"cds_start": 496,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903498.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAR1B",
"gene_hgnc_id": 10535,
"hgvs_c": "c.496A>C",
"hgvs_p": "p.Lys166Gln",
"transcript": "ENST00000903499.1",
"protein_id": "ENSP00000573558.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 198,
"cds_start": 496,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903499.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAR1B",
"gene_hgnc_id": 10535,
"hgvs_c": "c.496A>C",
"hgvs_p": "p.Lys166Gln",
"transcript": "ENST00000903500.1",
"protein_id": "ENSP00000573559.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 198,
"cds_start": 496,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903500.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAR1B",
"gene_hgnc_id": 10535,
"hgvs_c": "c.496A>C",
"hgvs_p": "p.Lys166Gln",
"transcript": "ENST00000950564.1",
"protein_id": "ENSP00000620623.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 198,
"cds_start": 496,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950564.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAR1B",
"gene_hgnc_id": 10535,
"hgvs_c": "c.496A>C",
"hgvs_p": "p.Lys166Gln",
"transcript": "ENST00000950565.1",
"protein_id": "ENSP00000620624.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 198,
"cds_start": 496,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950565.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAR1B",
"gene_hgnc_id": 10535,
"hgvs_c": "c.496A>C",
"hgvs_p": "p.Lys166Gln",
"transcript": "ENST00000950568.1",
"protein_id": "ENSP00000620627.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 198,
"cds_start": 496,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950568.1"
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAR1B",
"gene_hgnc_id": 10535,
"hgvs_c": "c.496A>C",
"hgvs_p": "p.Lys166Gln",
"transcript": "ENST00000950569.1",
"protein_id": "ENSP00000620628.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 198,
"cds_start": 496,
"cds_end": null,
"cds_length": 597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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{
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{
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"missense_variant"
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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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"3_prime_UTR_variant"
],
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"biotype": "nonsense_mediated_decay",
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],
"gene_symbol": "SAR1B",
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"dbsnp": "rs1765140597",
"frequency_reference_population": 0.0000012426946,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.86253e-7,
"gnomad_genomes_af": 0.00000656953,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41184669733047485,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.154,
"revel_prediction": "Benign",
"alphamissense_score": 0.1052,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.017,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,PP2,BP4",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 1,
"pathogenic_score": 5,
"criteria": [
"PM1",
"PM2",
"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016103.4",
"gene_symbol": "SAR1B",
"hgnc_id": 10535,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.496A>C",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}