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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: 3-183840578-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=183840578&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 183840578,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018622.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Leu274Phe",
"transcript": "NM_018622.7",
"protein_id": "NP_061092.3",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 379,
"cds_start": 820,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": "ENST00000317096.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Leu274Phe",
"transcript": "ENST00000317096.9",
"protein_id": "ENSP00000325421.5",
"transcript_support_level": 1,
"aa_start": 274,
"aa_end": null,
"aa_length": 379,
"cds_start": 820,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": "NM_018622.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283765",
"gene_hgnc_id": null,
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Leu274Phe",
"transcript": "ENST00000639401.1",
"protein_id": "ENSP00000491227.1",
"transcript_support_level": 5,
"aa_start": 274,
"aa_end": null,
"aa_length": 408,
"cds_start": 820,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 3058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.670C>T",
"hgvs_p": "p.Leu224Phe",
"transcript": "ENST00000311101.9",
"protein_id": "ENSP00000310676.5",
"transcript_support_level": 1,
"aa_start": 224,
"aa_end": null,
"aa_length": 329,
"cds_start": 670,
"cds_end": null,
"cds_length": 990,
"cdna_start": 712,
"cdna_end": null,
"cdna_length": 1240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Leu274Phe",
"transcript": "NM_001324436.2",
"protein_id": "NP_001311365.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 345,
"cds_start": 820,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 1399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.670C>T",
"hgvs_p": "p.Leu224Phe",
"transcript": "NM_001037639.3",
"protein_id": "NP_001032728.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 329,
"cds_start": 670,
"cds_end": null,
"cds_length": 990,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 1351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.670C>T",
"hgvs_p": "p.Leu224Phe",
"transcript": "NM_001324437.2",
"protein_id": "NP_001311366.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 295,
"cds_start": 670,
"cds_end": null,
"cds_length": 888,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 1249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.670C>T",
"hgvs_p": "p.Leu224Phe",
"transcript": "ENST00000435888.5",
"protein_id": "ENSP00000402137.1",
"transcript_support_level": 5,
"aa_start": 224,
"aa_end": null,
"aa_length": 295,
"cds_start": 670,
"cds_end": null,
"cds_length": 888,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 1098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Leu274Phe",
"transcript": "NM_001324438.2",
"protein_id": "NP_001311367.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 283,
"cds_start": 820,
"cds_end": null,
"cds_length": 852,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 1301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Leu83Phe",
"transcript": "ENST00000639100.1",
"protein_id": "ENSP00000491186.1",
"transcript_support_level": 5,
"aa_start": 83,
"aa_end": null,
"aa_length": 188,
"cds_start": 247,
"cds_end": null,
"cds_length": 567,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 1513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.193C>T",
"hgvs_p": "p.Leu65Phe",
"transcript": "ENST00000417784.5",
"protein_id": "ENSP00000398043.1",
"transcript_support_level": 3,
"aa_start": 65,
"aa_end": null,
"aa_length": 170,
"cds_start": 193,
"cds_end": null,
"cds_length": 513,
"cdna_start": 194,
"cdna_end": null,
"cdna_length": 722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Leu137Phe",
"transcript": "ENST00000449306.1",
"protein_id": "ENSP00000396691.1",
"transcript_support_level": 5,
"aa_start": 137,
"aa_end": null,
"aa_length": 157,
"cds_start": 409,
"cds_end": null,
"cds_length": 475,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.118C>T",
"hgvs_p": "p.Leu40Phe",
"transcript": "ENST00000418450.5",
"protein_id": "ENSP00000392926.1",
"transcript_support_level": 3,
"aa_start": 40,
"aa_end": null,
"aa_length": 111,
"cds_start": 118,
"cds_end": null,
"cds_length": 336,
"cdna_start": 120,
"cdna_end": null,
"cdna_length": 546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.160C>T",
"hgvs_p": "p.Leu54Phe",
"transcript": "ENST00000450375.5",
"protein_id": "ENSP00000402689.1",
"transcript_support_level": 2,
"aa_start": 54,
"aa_end": null,
"aa_length": 63,
"cds_start": 160,
"cds_end": null,
"cds_length": 192,
"cdna_start": 160,
"cdna_end": null,
"cdna_length": 488,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Leu274Phe",
"transcript": "XM_005247582.6",
"protein_id": "XP_005247639.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 394,
"cds_start": 820,
"cds_end": null,
"cds_length": 1185,
"cdna_start": 854,
"cdna_end": null,
"cdna_length": 1306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Leu274Phe",
"transcript": "XM_017006800.3",
"protein_id": "XP_016862289.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 360,
"cds_start": 820,
"cds_end": null,
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"cdna_start": 854,
"cdna_end": null,
"cdna_length": 1204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.670C>T",
"hgvs_p": "p.Leu224Phe",
"transcript": "XM_017006801.2",
"protein_id": "XP_016862290.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 344,
"cds_start": 670,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.670C>T",
"hgvs_p": "p.Leu224Phe",
"transcript": "XM_017006802.2",
"protein_id": "XP_016862291.1",
"transcript_support_level": null,
"aa_start": 224,
"aa_end": null,
"aa_length": 310,
"cds_start": 670,
"cds_end": null,
"cds_length": 933,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 1054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Leu83Phe",
"transcript": "XM_024453628.2",
"protein_id": "XP_024309396.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 203,
"cds_start": 247,
"cds_end": null,
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"cdna_start": 831,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Leu83Phe",
"transcript": "XM_024453629.2",
"protein_id": "XP_024309397.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 203,
"cds_start": 247,
"cds_end": null,
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"cdna_start": 396,
"cdna_end": null,
"cdna_length": 848,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Leu83Phe",
"transcript": "XM_024453631.2",
"protein_id": "XP_024309399.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 203,
"cds_start": 247,
"cds_end": null,
"cds_length": 612,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Leu83Phe",
"transcript": "XM_047448518.1",
"protein_id": "XP_047304474.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 203,
"cds_start": 247,
"cds_end": null,
"cds_length": 612,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARL",
"gene_hgnc_id": 18253,
"hgvs_c": "n.*354C>T",
"hgvs_p": null,
"transcript": "ENST00000421484.5",
"protein_id": "ENSP00000404421.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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},
{
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},
{
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},
{
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},
{
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"consequences": [
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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": "PARL",
"gene_hgnc_id": 18253,
"dbsnp": "rs1314211736",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7289175987243652,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.828,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9669,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.322,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018622.7",
"gene_symbol": "PARL",
"hgnc_id": 18253,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Leu274Phe"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000639401.1",
"gene_symbol": "ENSG00000283765",
"hgnc_id": null,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.820C>T",
"hgvs_p": "p.Leu274Phe"
}
],
"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
}