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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: 6-168059182-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=168059182&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 168059182,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024919.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Arg450His",
"transcript": "NM_024919.6",
"protein_id": "NP_079195.3",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 549,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000283309.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024919.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Arg450His",
"transcript": "ENST00000283309.11",
"protein_id": "ENSP00000283309.6",
"transcript_support_level": 1,
"aa_start": 450,
"aa_end": null,
"aa_length": 549,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024919.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283309.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "n.1036G>A",
"hgvs_p": null,
"transcript": "ENST00000432403.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000432403.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1544G>A",
"hgvs_p": "p.Arg515His",
"transcript": "ENST00000646385.1",
"protein_id": "ENSP00000494166.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 614,
"cds_start": 1544,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646385.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Arg446His",
"transcript": "ENST00000644440.1",
"protein_id": "ENSP00000496464.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 545,
"cds_start": 1337,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644440.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "NM_001394681.1",
"protein_id": "NP_001381610.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 484,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394681.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385His",
"transcript": "ENST00000336070.11",
"protein_id": "ENSP00000495639.1",
"transcript_support_level": 2,
"aa_start": 385,
"aa_end": null,
"aa_length": 484,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336070.11"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1145G>A",
"hgvs_p": "p.Arg382His",
"transcript": "NM_001122841.3",
"protein_id": "NP_001116313.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 481,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122841.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1145G>A",
"hgvs_p": "p.Arg382His",
"transcript": "ENST00000440994.6",
"protein_id": "ENSP00000414115.2",
"transcript_support_level": 2,
"aa_start": 382,
"aa_end": null,
"aa_length": 481,
"cds_start": 1145,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440994.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1544G>A",
"hgvs_p": "p.Arg515His",
"transcript": "XM_011536137.2",
"protein_id": "XP_011534439.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 614,
"cds_start": 1544,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536137.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1475G>A",
"hgvs_p": "p.Arg492His",
"transcript": "XM_017011317.2",
"protein_id": "XP_016866806.1",
"transcript_support_level": null,
"aa_start": 492,
"aa_end": null,
"aa_length": 591,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011317.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1358G>A",
"hgvs_p": "p.Arg453His",
"transcript": "XM_011536138.2",
"protein_id": "XP_011534440.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 552,
"cds_start": 1358,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536138.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1277G>A",
"hgvs_p": "p.Arg426His",
"transcript": "XM_011536140.2",
"protein_id": "XP_011534442.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 525,
"cds_start": 1277,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536140.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1220G>A",
"hgvs_p": "p.Arg407His",
"transcript": "XM_011536141.2",
"protein_id": "XP_011534443.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 506,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536141.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1220G>A",
"hgvs_p": "p.Arg407His",
"transcript": "XM_011536142.3",
"protein_id": "XP_011534444.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 506,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536142.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1220G>A",
"hgvs_p": "p.Arg407His",
"transcript": "XM_011536143.2",
"protein_id": "XP_011534445.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 506,
"cds_start": 1220,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536143.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Arg405His",
"transcript": "XM_011536145.2",
"protein_id": "XP_011534447.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 504,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536145.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "c.731G>A",
"hgvs_p": "p.Arg244His",
"transcript": "XM_017011318.2",
"protein_id": "XP_016866807.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 343,
"cds_start": 731,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011318.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "n.3083G>A",
"hgvs_p": null,
"transcript": "ENST00000358587.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000358587.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "n.*1466G>A",
"hgvs_p": null,
"transcript": "ENST00000468647.5",
"protein_id": "ENSP00000427668.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000468647.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "n.*984G>A",
"hgvs_p": null,
"transcript": "ENST00000509157.5",
"protein_id": "ENSP00000423552.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000509157.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "n.2037G>A",
"hgvs_p": null,
"transcript": "NR_110312.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_110312.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "n.*1466G>A",
"hgvs_p": null,
"transcript": "ENST00000468647.5",
"protein_id": "ENSP00000427668.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000468647.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"hgvs_c": "n.*984G>A",
"hgvs_p": null,
"transcript": "ENST00000509157.5",
"protein_id": "ENSP00000423552.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000509157.5"
}
],
"gene_symbol": "FRMD1",
"gene_hgnc_id": 21240,
"dbsnp": "rs376385156",
"frequency_reference_population": 0.000029018383,
"hom_count_reference_population": 0,
"allele_count_reference_population": 46,
"gnomad_exomes_af": 0.0000293098,
"gnomad_genomes_af": 0.0000262753,
"gnomad_exomes_ac": 42,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.039285808801651,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.0772,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.535,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_024919.6",
"gene_symbol": "FRMD1",
"hgnc_id": 21240,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Arg450His"
}
],
"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
}