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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: 5-98856583-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=98856583&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 98856583,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001364113.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.4930C>T",
"hgvs_p": "p.Arg1644Trp",
"transcript": "NM_001270.4",
"protein_id": "NP_001261.2",
"transcript_support_level": null,
"aa_start": 1644,
"aa_end": null,
"aa_length": 1710,
"cds_start": 4930,
"cds_end": null,
"cds_length": 5133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000614616.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.4930C>T",
"hgvs_p": "p.Arg1644Trp",
"transcript": "ENST00000614616.5",
"protein_id": "ENSP00000483667.1",
"transcript_support_level": 5,
"aa_start": 1644,
"aa_end": null,
"aa_length": 1710,
"cds_start": 4930,
"cds_end": null,
"cds_length": 5133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001270.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614616.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.5194C>T",
"hgvs_p": "p.Arg1732Trp",
"transcript": "NM_001364113.3",
"protein_id": "NP_001351042.1",
"transcript_support_level": null,
"aa_start": 1732,
"aa_end": null,
"aa_length": 1798,
"cds_start": 5194,
"cds_end": null,
"cds_length": 5397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364113.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.5194C>T",
"hgvs_p": "p.Arg1732Trp",
"transcript": "ENST00000511067.3",
"protein_id": "ENSP00000479403.2",
"transcript_support_level": 5,
"aa_start": 1732,
"aa_end": null,
"aa_length": 1798,
"cds_start": 5194,
"cds_end": null,
"cds_length": 5397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511067.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.4930C>T",
"hgvs_p": "p.Arg1644Trp",
"transcript": "NM_001376194.2",
"protein_id": "NP_001363123.1",
"transcript_support_level": null,
"aa_start": 1644,
"aa_end": null,
"aa_length": 1710,
"cds_start": 4930,
"cds_end": null,
"cds_length": 5133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376194.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.4930C>T",
"hgvs_p": "p.Arg1644Trp",
"transcript": "ENST00000926040.1",
"protein_id": "ENSP00000596099.1",
"transcript_support_level": null,
"aa_start": 1644,
"aa_end": null,
"aa_length": 1710,
"cds_start": 4930,
"cds_end": null,
"cds_length": 5133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926040.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.4780C>T",
"hgvs_p": "p.Arg1594Trp",
"transcript": "ENST00000926041.1",
"protein_id": "ENSP00000596100.1",
"transcript_support_level": null,
"aa_start": 1594,
"aa_end": null,
"aa_length": 1660,
"cds_start": 4780,
"cds_end": null,
"cds_length": 4983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926041.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.5194C>T",
"hgvs_p": "p.Arg1732Trp",
"transcript": "XM_024454344.2",
"protein_id": "XP_024310112.1",
"transcript_support_level": null,
"aa_start": 1732,
"aa_end": null,
"aa_length": 1798,
"cds_start": 5194,
"cds_end": null,
"cds_length": 5397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454344.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.4930C>T",
"hgvs_p": "p.Arg1644Trp",
"transcript": "XM_047416669.1",
"protein_id": "XP_047272625.1",
"transcript_support_level": null,
"aa_start": 1644,
"aa_end": null,
"aa_length": 1710,
"cds_start": 4930,
"cds_end": null,
"cds_length": 5133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416669.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.*60C>T",
"hgvs_p": null,
"transcript": "XM_024454345.2",
"protein_id": "XP_024310113.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1640,
"cds_start": null,
"cds_end": null,
"cds_length": 4923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024454345.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "c.*60C>T",
"hgvs_p": null,
"transcript": "XM_047416670.1",
"protein_id": "XP_047272626.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1552,
"cds_start": null,
"cds_end": null,
"cds_length": 4659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416670.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "n.*378C>T",
"hgvs_p": null,
"transcript": "ENST00000505657.1",
"protein_id": "ENSP00000422225.1",
"transcript_support_level": 3,
"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": "ENST00000505657.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "n.1117C>T",
"hgvs_p": null,
"transcript": "ENST00000512392.5",
"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": "ENST00000512392.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "n.*479C>T",
"hgvs_p": null,
"transcript": "ENST00000512844.5",
"protein_id": "ENSP00000422589.1",
"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": "ENST00000512844.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "n.628C>T",
"hgvs_p": null,
"transcript": "ENST00000513064.1",
"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": "ENST00000513064.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "n.1576C>T",
"hgvs_p": null,
"transcript": "ENST00000514344.5",
"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": "ENST00000514344.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "n.5650C>T",
"hgvs_p": null,
"transcript": "ENST00000706140.1",
"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": "retained_intron",
"feature": "ENST00000706140.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "n.*2458C>T",
"hgvs_p": null,
"transcript": "ENST00000706141.1",
"protein_id": "ENSP00000516225.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000706141.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "n.5577C>T",
"hgvs_p": null,
"transcript": "NR_157078.3",
"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_157078.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "n.5368C>T",
"hgvs_p": null,
"transcript": "NR_157079.3",
"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_157079.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "n.*378C>T",
"hgvs_p": null,
"transcript": "ENST00000505657.1",
"protein_id": "ENSP00000422225.1",
"transcript_support_level": 3,
"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": "ENST00000505657.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD1",
"gene_hgnc_id": 1915,
"hgvs_c": "n.*479C>T",
"hgvs_p": null,
"transcript": "ENST00000512844.5",
"protein_id": "ENSP00000422589.1",
"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": "ENST00000512844.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
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"exon_rank": 37,
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"exon_count": 37,
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"gene_symbol": "CHD1",
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"protein_id": "ENSP00000516225.1",
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
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"cds_length": null,
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"mane_plus": null,
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 3,
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"gene_symbol": "ENSG00000295348",
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"hgvs_c": "n.202+24G>A",
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"transcript": "ENST00000729415.1",
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"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000729415.1"
}
],
"gene_symbol": "CHD1",
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"dbsnp": "rs146540815",
"frequency_reference_population": 0.000038425736,
"hom_count_reference_population": 0,
"allele_count_reference_population": 62,
"gnomad_exomes_af": 0.0000362643,
"gnomad_genomes_af": 0.0000592074,
"gnomad_exomes_ac": 53,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5127031803131104,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.58,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2399,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.36,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS1",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS1"
],
"verdict": "Likely_benign",
"transcript": "NM_001364113.3",
"gene_symbol": "CHD1",
"hgnc_id": 1915,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown,AR",
"hgvs_c": "c.5194C>T",
"hgvs_p": "p.Arg1732Trp"
},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000729415.1",
"gene_symbol": "ENSG00000295348",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.202+24G>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}