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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: 18-54294435-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=54294435&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 54294435,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000579534.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.2191G>A",
"hgvs_p": "p.Ala731Thr",
"transcript": "NM_007195.3",
"protein_id": "NP_009126.2",
"transcript_support_level": null,
"aa_start": 731,
"aa_end": null,
"aa_length": 740,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 6020,
"mane_select": "ENST00000579534.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.2191G>A",
"hgvs_p": "p.Ala731Thr",
"transcript": "ENST00000579534.6",
"protein_id": "ENSP00000462664.1",
"transcript_support_level": 1,
"aa_start": 731,
"aa_end": null,
"aa_length": 740,
"cds_start": 2191,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 2221,
"cdna_end": null,
"cdna_length": 6020,
"mane_select": "NM_007195.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.1882G>A",
"hgvs_p": "p.Ala628Thr",
"transcript": "ENST00000579434.5",
"protein_id": "ENSP00000462681.1",
"transcript_support_level": 1,
"aa_start": 628,
"aa_end": null,
"aa_length": 637,
"cds_start": 1882,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 2416,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "n.*1286G>A",
"hgvs_p": null,
"transcript": "ENST00000585023.5",
"protein_id": "ENSP00000463971.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "n.*1286G>A",
"hgvs_p": null,
"transcript": "ENST00000585023.5",
"protein_id": "ENSP00000463971.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.2116G>A",
"hgvs_p": "p.Ala706Thr",
"transcript": "NM_001351632.2",
"protein_id": "NP_001338561.1",
"transcript_support_level": null,
"aa_start": 706,
"aa_end": null,
"aa_length": 715,
"cds_start": 2116,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 2164,
"cdna_end": null,
"cdna_length": 5963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.2065G>A",
"hgvs_p": "p.Ala689Thr",
"transcript": "NM_001351610.1",
"protein_id": "NP_001338539.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 698,
"cds_start": 2065,
"cds_end": null,
"cds_length": 2097,
"cdna_start": 2133,
"cdna_end": null,
"cdna_length": 5932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.2005G>A",
"hgvs_p": "p.Ala669Thr",
"transcript": "ENST00000217800.9",
"protein_id": "ENSP00000217800.6",
"transcript_support_level": 5,
"aa_start": 669,
"aa_end": null,
"aa_length": 678,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 2005,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.1987G>A",
"hgvs_p": "p.Ala663Thr",
"transcript": "NM_001351611.2",
"protein_id": "NP_001338540.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 672,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2202,
"cdna_end": null,
"cdna_length": 6001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.1987G>A",
"hgvs_p": "p.Ala663Thr",
"transcript": "NM_001351612.2",
"protein_id": "NP_001338541.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 672,
"cds_start": 1987,
"cds_end": null,
"cds_length": 2019,
"cdna_start": 2535,
"cdna_end": null,
"cdna_length": 6334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Ala652Thr",
"transcript": "NM_001351613.1",
"protein_id": "NP_001338542.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 661,
"cds_start": 1954,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 2022,
"cdna_end": null,
"cdna_length": 5821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.1954G>A",
"hgvs_p": "p.Ala652Thr",
"transcript": "ENST00000406285.7",
"protein_id": "ENSP00000385196.3",
"transcript_support_level": 2,
"aa_start": 652,
"aa_end": null,
"aa_length": 661,
"cds_start": 1954,
"cds_end": null,
"cds_length": 1986,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 2030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.1882G>A",
"hgvs_p": "p.Ala628Thr",
"transcript": "NM_001351614.2",
"protein_id": "NP_001338543.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 637,
"cds_start": 1882,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 2076,
"cdna_end": null,
"cdna_length": 5875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.1882G>A",
"hgvs_p": "p.Ala628Thr",
"transcript": "NM_001351615.2",
"protein_id": "NP_001338544.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 637,
"cds_start": 1882,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 2409,
"cdna_end": null,
"cdna_length": 6208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.1828G>A",
"hgvs_p": "p.Ala610Thr",
"transcript": "NM_001351616.1",
"protein_id": "NP_001338545.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 619,
"cds_start": 1828,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1896,
"cdna_end": null,
"cdna_length": 5695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Ala550Thr",
"transcript": "NM_001351617.2",
"protein_id": "NP_001338546.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 559,
"cds_start": 1648,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 2036,
"cdna_end": null,
"cdna_length": 5835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Ala550Thr",
"transcript": "NM_001351618.2",
"protein_id": "NP_001338547.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 559,
"cds_start": 1648,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 5961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Ala550Thr",
"transcript": "NM_001351619.2",
"protein_id": "NP_001338548.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 559,
"cds_start": 1648,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 2200,
"cdna_end": null,
"cdna_length": 5999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.1411G>A",
"hgvs_p": "p.Ala471Thr",
"transcript": "NM_001351620.2",
"protein_id": "NP_001338549.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 480,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1963,
"cdna_end": null,
"cdna_length": 5762,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.1882G>A",
"hgvs_p": "p.Ala628Thr",
"transcript": "XM_024451081.2",
"protein_id": "XP_024306849.1",
"transcript_support_level": null,
"aa_start": 628,
"aa_end": null,
"aa_length": 637,
"cds_start": 1882,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 2688,
"cdna_end": null,
"cdna_length": 6487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.1198+7024G>A",
"hgvs_p": null,
"transcript": "NM_001351621.1",
"protein_id": "NP_001338550.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 430,
"cds_start": -4,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "c.331+7024G>A",
"hgvs_p": null,
"transcript": "ENST00000579823.1",
"protein_id": "ENSP00000463065.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": -4,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "POLI",
"gene_hgnc_id": 9182,
"hgvs_c": "n.1339+7024G>A",
"hgvs_p": null,
"transcript": "NR_147257.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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{
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"verdict": "Benign",
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"effects": [
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],
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"custom_annotations": null
}
],
"message": null
}