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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: 19-18539672-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18539672&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 18539672,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_012181.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu",
"transcript": "NM_012181.5",
"protein_id": "NP_036313.3",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 413,
"cds_start": 341,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000608443.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012181.5"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu",
"transcript": "ENST00000608443.6",
"protein_id": "ENSP00000476767.1",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 413,
"cds_start": 341,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012181.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000608443.6"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu",
"transcript": "ENST00000222308.8",
"protein_id": "ENSP00000222308.4",
"transcript_support_level": 1,
"aa_start": 114,
"aa_end": null,
"aa_length": 412,
"cds_start": 341,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000222308.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"hgvs_c": "c.293-1899C>T",
"hgvs_p": null,
"transcript": "ENST00000544835.7",
"protein_id": "ENSP00000441267.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": null,
"cds_end": null,
"cds_length": 748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544835.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu",
"transcript": "ENST00000959009.1",
"protein_id": "ENSP00000629068.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 464,
"cds_start": 341,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959009.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu",
"transcript": "ENST00000959008.1",
"protein_id": "ENSP00000629067.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 463,
"cds_start": 341,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959008.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu",
"transcript": "ENST00000923885.1",
"protein_id": "ENSP00000593944.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 452,
"cds_start": 341,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923885.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu",
"transcript": "ENST00000902309.1",
"protein_id": "ENSP00000572368.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 422,
"cds_start": 341,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902309.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu",
"transcript": "ENST00000902306.1",
"protein_id": "ENSP00000572365.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 417,
"cds_start": 341,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902306.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu",
"transcript": "ENST00000923888.1",
"protein_id": "ENSP00000593947.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 417,
"cds_start": 341,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923888.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu",
"transcript": "ENST00000902307.1",
"protein_id": "ENSP00000572366.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 416,
"cds_start": 341,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902307.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu",
"transcript": "ENST00000597960.7",
"protein_id": "ENSP00000471700.1",
"transcript_support_level": 5,
"aa_start": 114,
"aa_end": null,
"aa_length": 413,
"cds_start": 341,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597960.7"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu",
"transcript": "ENST00000902303.1",
"protein_id": "ENSP00000572362.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 413,
"cds_start": 341,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902303.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu",
"transcript": "ENST00000902315.1",
"protein_id": "ENSP00000572374.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 413,
"cds_start": 341,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902315.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu",
"transcript": "ENST00000923877.1",
"protein_id": "ENSP00000593936.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 413,
"cds_start": 341,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923877.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu",
"transcript": "ENST00000923887.1",
"protein_id": "ENSP00000593946.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 413,
"cds_start": 341,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923887.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu",
"transcript": "ENST00000959013.1",
"protein_id": "ENSP00000629072.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 413,
"cds_start": 341,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959013.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu",
"transcript": "ENST00000959014.1",
"protein_id": "ENSP00000629073.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 413,
"cds_start": 341,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959014.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu",
"transcript": "ENST00000959015.1",
"protein_id": "ENSP00000629074.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 413,
"cds_start": 341,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959015.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu",
"transcript": "ENST00000959018.1",
"protein_id": "ENSP00000629077.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 413,
"cds_start": 341,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959018.1"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu",
"transcript": "NM_001308373.2",
"protein_id": "NP_001295302.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 412,
"cds_start": 341,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308373.2"
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu",
"transcript": "ENST00000596558.6",
"protein_id": "ENSP00000472302.1",
"transcript_support_level": 2,
"aa_start": 114,
"aa_end": null,
"aa_length": 412,
"cds_start": 341,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596558.6"
},
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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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"transcript": "ENST00000601844.5",
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{
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"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
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"gene_symbol": "FKBP8",
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"hgvs_c": "n.-224C>T",
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"biotype": "retained_intron",
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],
"gene_symbol": "FKBP8",
"gene_hgnc_id": 3724,
"dbsnp": "rs756695076",
"frequency_reference_population": 0.000027934175,
"hom_count_reference_population": 0,
"allele_count_reference_population": 45,
"gnomad_exomes_af": 0.0000301635,
"gnomad_genomes_af": 0.00000656978,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3369709849357605,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.137,
"revel_prediction": "Benign",
"alphamissense_score": 0.1275,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.793,
"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": -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_012181.5",
"gene_symbol": "FKBP8",
"hgnc_id": 3724,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Ser114Leu"
}
],
"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
}