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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: 16-56336824-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=56336824&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 56336824,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000262493.12",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "c.687C>A",
"hgvs_p": "p.Ser229Arg",
"transcript": "NM_020988.3",
"protein_id": "NP_066268.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 354,
"cds_start": 687,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 3182,
"mane_select": "ENST00000262493.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "c.687C>A",
"hgvs_p": "p.Ser229Arg",
"transcript": "ENST00000262493.12",
"protein_id": "ENSP00000262493.6",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 354,
"cds_start": 687,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 3182,
"mane_select": "NM_020988.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "c.687C>A",
"hgvs_p": "p.Ser229Arg",
"transcript": "ENST00000262494.13",
"protein_id": "ENSP00000262494.7",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 354,
"cds_start": 687,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 6061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "c.687C>A",
"hgvs_p": "p.Ser229Arg",
"transcript": "ENST00000638705.1",
"protein_id": "ENSP00000491223.1",
"transcript_support_level": 1,
"aa_start": 229,
"aa_end": null,
"aa_length": 354,
"cds_start": 687,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 3529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "c.687C>A",
"hgvs_p": "p.Ser229Arg",
"transcript": "NM_138736.3",
"protein_id": "NP_620073.2",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 354,
"cds_start": 687,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 6061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "c.687C>A",
"hgvs_p": "p.Ser229Arg",
"transcript": "ENST00000640469.2",
"protein_id": "ENSP00000491875.2",
"transcript_support_level": 5,
"aa_start": 229,
"aa_end": null,
"aa_length": 354,
"cds_start": 687,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 2024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "c.687C>A",
"hgvs_p": "p.Ser229Arg",
"transcript": "ENST00000568375.3",
"protein_id": "ENSP00000491143.2",
"transcript_support_level": 3,
"aa_start": 229,
"aa_end": null,
"aa_length": 271,
"cds_start": 687,
"cds_end": null,
"cds_length": 816,
"cdna_start": 1434,
"cdna_end": null,
"cdna_length": 1737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "c.354C>A",
"hgvs_p": "p.Ser118Arg",
"transcript": "ENST00000562316.6",
"protein_id": "ENSP00000457238.2",
"transcript_support_level": 5,
"aa_start": 118,
"aa_end": null,
"aa_length": 195,
"cds_start": 354,
"cds_end": null,
"cds_length": 588,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "c.93C>A",
"hgvs_p": "p.Ser31Arg",
"transcript": "ENST00000564727.3",
"protein_id": "ENSP00000454971.3",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 143,
"cds_start": 93,
"cds_end": null,
"cds_length": 432,
"cdna_start": 94,
"cdna_end": null,
"cdna_length": 435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "c.561C>A",
"hgvs_p": "p.Ser187Arg",
"transcript": "XM_011523003.4",
"protein_id": "XP_011521305.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 312,
"cds_start": 561,
"cds_end": null,
"cds_length": 939,
"cdna_start": 960,
"cdna_end": null,
"cdna_length": 2708,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "n.902C>A",
"hgvs_p": null,
"transcript": "ENST00000638185.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1162,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "n.987C>A",
"hgvs_p": null,
"transcript": "ENST00000638210.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 2668,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "n.597C>A",
"hgvs_p": null,
"transcript": "ENST00000638836.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1642,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "n.1408C>A",
"hgvs_p": null,
"transcript": "ENST00000639055.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1672,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "n.588C>A",
"hgvs_p": null,
"transcript": "ENST00000639251.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1065,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "n.*93C>A",
"hgvs_p": null,
"transcript": "ENST00000639268.1",
"protein_id": "ENSP00000491391.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "n.210C>A",
"hgvs_p": null,
"transcript": "ENST00000639341.1",
"protein_id": "ENSP00000491137.1",
"transcript_support_level": 5,
"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": 968,
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "n.*539C>A",
"hgvs_p": null,
"transcript": "ENST00000639770.1",
"protein_id": "ENSP00000491999.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1515,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "n.617C>A",
"hgvs_p": null,
"transcript": "ENST00000640390.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3078,
"mane_select": null,
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"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "n.463C>A",
"hgvs_p": null,
"transcript": "ENST00000640560.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2620,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "n.*85C>A",
"hgvs_p": null,
"transcript": "ENST00000640893.1",
"protein_id": "ENSP00000492677.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2043,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "n.1434C>A",
"hgvs_p": null,
"transcript": "XR_007064866.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5448,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "n.*93C>A",
"hgvs_p": null,
"transcript": "ENST00000639268.1",
"protein_id": "ENSP00000491391.1",
"transcript_support_level": 5,
"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": 829,
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"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "n.*539C>A",
"hgvs_p": null,
"transcript": "ENST00000639770.1",
"protein_id": "ENSP00000491999.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1515,
"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": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"hgvs_c": "n.*85C>A",
"hgvs_p": null,
"transcript": "ENST00000640893.1",
"protein_id": "ENSP00000492677.1",
"transcript_support_level": 5,
"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": 2043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GNAO1",
"gene_hgnc_id": 4389,
"dbsnp": "rs546569747",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9712289571762085,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.883,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9987,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.55,
"phylop100way_prediction": "Benign",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1,PM1,PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PS1",
"PM1",
"PM2",
"PP3_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000262493.12",
"gene_symbol": "GNAO1",
"hgnc_id": 4389,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.687C>A",
"hgvs_p": "p.Ser229Arg"
}
],
"clinvar_disease": "Developmental and epileptic encephalopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Developmental and epileptic encephalopathy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}