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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: 12-95022320-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=95022320&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 95022320,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003297.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1721T>C",
"hgvs_p": "p.Ile574Thr",
"transcript": "NM_003297.4",
"protein_id": "NP_003288.2",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 603,
"cds_start": 1721,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1967,
"cdna_end": null,
"cdna_length": 4058,
"mane_select": "ENST00000333003.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003297.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1721T>C",
"hgvs_p": "p.Ile574Thr",
"transcript": "ENST00000333003.10",
"protein_id": "ENSP00000333275.4",
"transcript_support_level": 2,
"aa_start": 574,
"aa_end": null,
"aa_length": 603,
"cds_start": 1721,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1967,
"cdna_end": null,
"cdna_length": 4058,
"mane_select": "NM_003297.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333003.10"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1853T>C",
"hgvs_p": "p.Ile618Thr",
"transcript": "ENST00000922903.1",
"protein_id": "ENSP00000592962.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 647,
"cds_start": 1853,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 2012,
"cdna_end": null,
"cdna_length": 2439,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922903.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1853T>C",
"hgvs_p": "p.Ile618Thr",
"transcript": "ENST00000922904.1",
"protein_id": "ENSP00000592963.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 647,
"cds_start": 1853,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 2404,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922904.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1838T>C",
"hgvs_p": "p.Ile613Thr",
"transcript": "ENST00000942592.1",
"protein_id": "ENSP00000612651.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 642,
"cds_start": 1838,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 2081,
"cdna_end": null,
"cdna_length": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942592.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1721T>C",
"hgvs_p": "p.Ile574Thr",
"transcript": "ENST00000877191.1",
"protein_id": "ENSP00000547250.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 603,
"cds_start": 1721,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 2075,
"cdna_end": null,
"cdna_length": 2500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877191.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1721T>C",
"hgvs_p": "p.Ile574Thr",
"transcript": "ENST00000877193.1",
"protein_id": "ENSP00000547252.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 603,
"cds_start": 1721,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1940,
"cdna_end": null,
"cdna_length": 2367,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877193.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1709T>C",
"hgvs_p": "p.Ile570Thr",
"transcript": "ENST00000877190.1",
"protein_id": "ENSP00000547249.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 599,
"cds_start": 1709,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 2373,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877190.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1709T>C",
"hgvs_p": "p.Ile570Thr",
"transcript": "ENST00000877195.1",
"protein_id": "ENSP00000547254.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 599,
"cds_start": 1709,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1915,
"cdna_end": null,
"cdna_length": 2339,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877195.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1706T>C",
"hgvs_p": "p.Ile569Thr",
"transcript": "ENST00000877189.1",
"protein_id": "ENSP00000547248.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 598,
"cds_start": 1706,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1952,
"cdna_end": null,
"cdna_length": 3244,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877189.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1706T>C",
"hgvs_p": "p.Ile569Thr",
"transcript": "ENST00000877194.1",
"protein_id": "ENSP00000547253.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 598,
"cds_start": 1706,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 2349,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877194.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1694T>C",
"hgvs_p": "p.Ile565Thr",
"transcript": "ENST00000877196.1",
"protein_id": "ENSP00000547255.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 594,
"cds_start": 1694,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1861,
"cdna_end": null,
"cdna_length": 2284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877196.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1583T>C",
"hgvs_p": "p.Ile528Thr",
"transcript": "ENST00000877192.1",
"protein_id": "ENSP00000547251.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 557,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1809,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877192.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1574T>C",
"hgvs_p": "p.Ile525Thr",
"transcript": "ENST00000942591.1",
"protein_id": "ENSP00000612650.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 554,
"cds_start": 1574,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1820,
"cdna_end": null,
"cdna_length": 2245,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942591.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1433T>C",
"hgvs_p": "p.Ile478Thr",
"transcript": "ENST00000877188.1",
"protein_id": "ENSP00000547247.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 507,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1676,
"cdna_end": null,
"cdna_length": 3715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877188.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1418T>C",
"hgvs_p": "p.Ile473Thr",
"transcript": "ENST00000922902.1",
"protein_id": "ENSP00000592961.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 502,
"cds_start": 1418,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 2085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922902.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1337T>C",
"hgvs_p": "p.Ile446Thr",
"transcript": "ENST00000877197.1",
"protein_id": "ENSP00000547256.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 475,
"cds_start": 1337,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 1907,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877197.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"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": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1049T>C",
"hgvs_p": "p.Ile350Thr",
"transcript": "ENST00000942590.1",
"protein_id": "ENSP00000612649.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 379,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 1986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942590.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1706T>C",
"hgvs_p": "p.Ile569Thr",
"transcript": "XM_005269133.3",
"protein_id": "XP_005269190.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 598,
"cds_start": 1706,
"cds_end": null,
"cds_length": 1797,
"cdna_start": 1952,
"cdna_end": null,
"cdna_length": 4043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269133.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1583T>C",
"hgvs_p": "p.Ile528Thr",
"transcript": "XM_006719584.3",
"protein_id": "XP_006719647.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 557,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1674,
"cdna_start": 1829,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719584.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1433T>C",
"hgvs_p": "p.Ile478Thr",
"transcript": "XM_011538717.3",
"protein_id": "XP_011537019.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 507,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 3770,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538717.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.1418T>C",
"hgvs_p": "p.Ile473Thr",
"transcript": "XM_047429495.1",
"protein_id": "XP_047285451.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 502,
"cds_start": 1418,
"cds_end": null,
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{
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{
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{
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"feature": "XM_011538716.3"
},
{
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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": true,
"consequences": [
"downstream_gene_variant"
],
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"gene_symbol": "NR2C1",
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"biotype": "retained_intron",
"feature": "ENST00000546416.5"
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],
"gene_symbol": "NR2C1",
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"dbsnp": "rs753005880",
"frequency_reference_population": 0.000008677155,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000889664,
"gnomad_genomes_af": 0.00000657004,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8267275094985962,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.529,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1701,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.325,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003297.4",
"gene_symbol": "NR2C1",
"hgnc_id": 7971,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1721T>C",
"hgvs_p": "p.Ile574Thr"
}
],
"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
}