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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: 1-244863931-G-GCCTCCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=244863931&ref=G&alt=GCCTCCT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 244863931,
"ref": "G",
"alt": "GCCTCCT",
"effect": "conservative_inframe_insertion",
"transcript": "NM_031844.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "EEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.371_376dupAGGAGG",
"hgvs_p": "p.Glu124_Glu125dup",
"transcript": "NM_031844.3",
"protein_id": "NP_114032.2",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 825,
"cds_start": 376,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000640218.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031844.3"
},
{
"aa_ref": "A",
"aa_alt": "EEA",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.371_376dupAGGAGG",
"hgvs_p": "p.Glu124_Glu125dup",
"transcript": "ENST00000640218.2",
"protein_id": "ENSP00000491215.1",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 825,
"cds_start": 376,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031844.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640218.2"
},
{
"aa_ref": "A",
"aa_alt": "EEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.371_376dupAGGAGG",
"hgvs_p": "p.Glu124_Glu125dup",
"transcript": "ENST00000444376.7",
"protein_id": "ENSP00000393151.2",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 806,
"cds_start": 376,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444376.7"
},
{
"aa_ref": "A",
"aa_alt": "EEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.371_376dupAGGAGG",
"hgvs_p": "p.Glu124_Glu125dup",
"transcript": "ENST00000919769.1",
"protein_id": "ENSP00000589828.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 834,
"cds_start": 376,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919769.1"
},
{
"aa_ref": "A",
"aa_alt": "EEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.371_376dupAGGAGG",
"hgvs_p": "p.Glu124_Glu125dup",
"transcript": "ENST00000919767.1",
"protein_id": "ENSP00000589826.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 823,
"cds_start": 376,
"cds_end": null,
"cds_length": 2472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919767.1"
},
{
"aa_ref": "A",
"aa_alt": "EEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.371_376dupAGGAGG",
"hgvs_p": "p.Glu124_Glu125dup",
"transcript": "ENST00000919768.1",
"protein_id": "ENSP00000589827.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 812,
"cds_start": 376,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919768.1"
},
{
"aa_ref": "A",
"aa_alt": "EEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.371_376dupAGGAGG",
"hgvs_p": "p.Glu124_Glu125dup",
"transcript": "NM_004501.3",
"protein_id": "NP_004492.2",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 806,
"cds_start": 376,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004501.3"
},
{
"aa_ref": "A",
"aa_alt": "EEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.371_376dupAGGAGG",
"hgvs_p": "p.Glu124_Glu125dup",
"transcript": "ENST00000945104.1",
"protein_id": "ENSP00000615163.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 806,
"cds_start": 376,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945104.1"
},
{
"aa_ref": "A",
"aa_alt": "EEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.371_376dupAGGAGG",
"hgvs_p": "p.Glu124_Glu125dup",
"transcript": "ENST00000899281.1",
"protein_id": "ENSP00000569340.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 804,
"cds_start": 376,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899281.1"
},
{
"aa_ref": "A",
"aa_alt": "EEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.371_376dupAGGAGG",
"hgvs_p": "p.Glu124_Glu125dup",
"transcript": "ENST00000945105.1",
"protein_id": "ENSP00000615164.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 763,
"cds_start": 376,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945105.1"
},
{
"aa_ref": "A",
"aa_alt": "EEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.371_376dupAGGAGG",
"hgvs_p": "p.Glu124_Glu125dup",
"transcript": "ENST00000945106.1",
"protein_id": "ENSP00000615165.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 761,
"cds_start": 376,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945106.1"
},
{
"aa_ref": "A",
"aa_alt": "EEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.371_376dupAGGAGG",
"hgvs_p": "p.Glu124_Glu125dup",
"transcript": "ENST00000283179.14",
"protein_id": "ENSP00000283179.10",
"transcript_support_level": 5,
"aa_start": 126,
"aa_end": null,
"aa_length": 744,
"cds_start": 376,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283179.14"
},
{
"aa_ref": "A",
"aa_alt": "EEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.371_376dupAGGAGG",
"hgvs_p": "p.Glu124_Glu125dup",
"transcript": "ENST00000919766.1",
"protein_id": "ENSP00000589825.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 740,
"cds_start": 376,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919766.1"
},
{
"aa_ref": "A",
"aa_alt": "EEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.371_376dupAGGAGG",
"hgvs_p": "p.Glu124_Glu125dup",
"transcript": "ENST00000919770.1",
"protein_id": "ENSP00000589829.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 737,
"cds_start": 376,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919770.1"
},
{
"aa_ref": "A",
"aa_alt": "EEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.371_376dupAGGAGG",
"hgvs_p": "p.Glu124_Glu125dup",
"transcript": "ENST00000919765.1",
"protein_id": "ENSP00000589824.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 735,
"cds_start": 376,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919765.1"
},
{
"aa_ref": "A",
"aa_alt": "EEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.155_160dupAGGAGG",
"hgvs_p": "p.Glu52_Glu53dup",
"transcript": "ENST00000638475.1",
"protein_id": "ENSP00000491305.1",
"transcript_support_level": 5,
"aa_start": 54,
"aa_end": null,
"aa_length": 728,
"cds_start": 160,
"cds_end": null,
"cds_length": 2187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638475.1"
},
{
"aa_ref": "A",
"aa_alt": "EEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.371_376dupAGGAGG",
"hgvs_p": "p.Glu124_Glu125dup",
"transcript": "ENST00000919771.1",
"protein_id": "ENSP00000589830.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 718,
"cds_start": 376,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919771.1"
},
{
"aa_ref": "A",
"aa_alt": "EEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.47_52dupAGGAGG",
"hgvs_p": "p.Glu16_Glu17dup",
"transcript": "ENST00000704074.1",
"protein_id": "ENSP00000515674.1",
"transcript_support_level": null,
"aa_start": 18,
"aa_end": null,
"aa_length": 664,
"cds_start": 52,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704074.1"
},
{
"aa_ref": "A",
"aa_alt": "EEA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "c.371_376dupAGGAGG",
"hgvs_p": "p.Glu124_Glu125dup",
"transcript": "ENST00000945103.1",
"protein_id": "ENSP00000615162.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 399,
"cds_start": 376,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945103.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.556_561dupAGGAGG",
"hgvs_p": null,
"transcript": "ENST00000476241.2",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000476241.2"
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273175",
"gene_hgnc_id": null,
"hgvs_c": "n.177_182dupTCCTCC",
"hgvs_p": null,
"transcript": "ENST00000610145.3",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000610145.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNRNPU",
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{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"gene_symbol": "HNRNPU",
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"transcript": "ENST00000640306.1",
"protein_id": "ENSP00000491685.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000640306.1"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
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"exon_count": 6,
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"gene_symbol": "HNRNPU",
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"transcript": "ENST00000640440.1",
"protein_id": "ENSP00000491263.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000640440.1"
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"hgvs_c": "n.595_600dupAGGAGG",
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"transcript": "ENST00000649899.1",
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"aa_end": null,
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"cds_start": null,
"cds_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000649899.1"
}
],
"gene_symbol": "HNRNPU",
"gene_hgnc_id": 5048,
"dbsnp": "rs747108904",
"frequency_reference_population": 0.000006573066,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657307,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.894,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4",
"acmg_by_gene": [
{
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"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_031844.3",
"gene_symbol": "HNRNPU",
"hgnc_id": 5048,
"effects": [
"conservative_inframe_insertion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.371_376dupAGGAGG",
"hgvs_p": "p.Glu124_Glu125dup"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000610145.3",
"gene_symbol": "ENSG00000273175",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.177_182dupTCCTCC",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}