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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: 11-19224728-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=19224728&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 19224728,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024680.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"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": "E2F8",
"gene_hgnc_id": 24727,
"hgvs_c": "c.2534A>T",
"hgvs_p": "p.Asn845Ile",
"transcript": "NM_024680.4",
"protein_id": "NP_078956.2",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 867,
"cds_start": 2534,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000250024.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024680.4"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"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": "E2F8",
"gene_hgnc_id": 24727,
"hgvs_c": "c.2534A>T",
"hgvs_p": "p.Asn845Ile",
"transcript": "ENST00000250024.9",
"protein_id": "ENSP00000250024.4",
"transcript_support_level": 1,
"aa_start": 845,
"aa_end": null,
"aa_length": 867,
"cds_start": 2534,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024680.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000250024.9"
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "E2F8",
"gene_hgnc_id": 24727,
"hgvs_c": "c.2558A>T",
"hgvs_p": "p.Asn853Ile",
"transcript": "ENST00000928104.1",
"protein_id": "ENSP00000598163.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 875,
"cds_start": 2558,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928104.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "E2F8",
"gene_hgnc_id": 24727,
"hgvs_c": "c.2534A>T",
"hgvs_p": "p.Asn845Ile",
"transcript": "NM_001256371.2",
"protein_id": "NP_001243300.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 867,
"cds_start": 2534,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256371.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "E2F8",
"gene_hgnc_id": 24727,
"hgvs_c": "c.2534A>T",
"hgvs_p": "p.Asn845Ile",
"transcript": "NM_001256372.1",
"protein_id": "NP_001243301.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 867,
"cds_start": 2534,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256372.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "E2F8",
"gene_hgnc_id": 24727,
"hgvs_c": "c.2534A>T",
"hgvs_p": "p.Asn845Ile",
"transcript": "ENST00000527884.5",
"protein_id": "ENSP00000434199.1",
"transcript_support_level": 2,
"aa_start": 845,
"aa_end": null,
"aa_length": 867,
"cds_start": 2534,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527884.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "E2F8",
"gene_hgnc_id": 24727,
"hgvs_c": "c.2534A>T",
"hgvs_p": "p.Asn845Ile",
"transcript": "ENST00000620009.4",
"protein_id": "ENSP00000481103.1",
"transcript_support_level": 5,
"aa_start": 845,
"aa_end": null,
"aa_length": 867,
"cds_start": 2534,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620009.4"
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "E2F8",
"gene_hgnc_id": 24727,
"hgvs_c": "c.2534A>T",
"hgvs_p": "p.Asn845Ile",
"transcript": "ENST00000966242.1",
"protein_id": "ENSP00000636301.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 867,
"cds_start": 2534,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966242.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "E2F8",
"gene_hgnc_id": 24727,
"hgvs_c": "c.2459A>T",
"hgvs_p": "p.Asn820Ile",
"transcript": "ENST00000898597.1",
"protein_id": "ENSP00000568656.1",
"transcript_support_level": null,
"aa_start": 820,
"aa_end": null,
"aa_length": 842,
"cds_start": 2459,
"cds_end": null,
"cds_length": 2529,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898597.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "E2F8",
"gene_hgnc_id": 24727,
"hgvs_c": "c.2330A>T",
"hgvs_p": "p.Asn777Ile",
"transcript": "ENST00000928103.1",
"protein_id": "ENSP00000598162.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 799,
"cds_start": 2330,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928103.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "E2F8",
"gene_hgnc_id": 24727,
"hgvs_c": "c.2219A>T",
"hgvs_p": "p.Asn740Ile",
"transcript": "ENST00000898598.1",
"protein_id": "ENSP00000568657.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 762,
"cds_start": 2219,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898598.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "E2F8",
"gene_hgnc_id": 24727,
"hgvs_c": "c.2219A>T",
"hgvs_p": "p.Asn740Ile",
"transcript": "ENST00000966243.1",
"protein_id": "ENSP00000636302.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 762,
"cds_start": 2219,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966243.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "E2F8",
"gene_hgnc_id": 24727,
"hgvs_c": "c.2057A>T",
"hgvs_p": "p.Asn686Ile",
"transcript": "ENST00000898599.1",
"protein_id": "ENSP00000568658.1",
"transcript_support_level": null,
"aa_start": 686,
"aa_end": null,
"aa_length": 708,
"cds_start": 2057,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898599.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "E2F8",
"gene_hgnc_id": 24727,
"hgvs_c": "c.1919A>T",
"hgvs_p": "p.Asn640Ile",
"transcript": "ENST00000928105.1",
"protein_id": "ENSP00000598164.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 662,
"cds_start": 1919,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928105.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "E2F8",
"gene_hgnc_id": 24727,
"hgvs_c": "c.2219A>T",
"hgvs_p": "p.Asn740Ile",
"transcript": "XM_011520367.2",
"protein_id": "XP_011518669.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 762,
"cds_start": 2219,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520367.2"
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "E2F8",
"gene_hgnc_id": 24727,
"hgvs_c": "c.2219A>T",
"hgvs_p": "p.Asn740Ile",
"transcript": "XM_047427596.1",
"protein_id": "XP_047283552.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 762,
"cds_start": 2219,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427596.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "E2F8",
"gene_hgnc_id": 24727,
"hgvs_c": "c.2219A>T",
"hgvs_p": "p.Asn740Ile",
"transcript": "XM_047427597.1",
"protein_id": "XP_047283553.1",
"transcript_support_level": null,
"aa_start": 740,
"aa_end": null,
"aa_length": 762,
"cds_start": 2219,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427597.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CSRP3-AS1",
"gene_hgnc_id": 54183,
"hgvs_c": "n.146-106T>A",
"hgvs_p": null,
"transcript": "ENST00000527978.2",
"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": "pseudogene",
"feature": "ENST00000527978.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CSRP3-AS1",
"gene_hgnc_id": 54183,
"hgvs_c": "n.107-106T>A",
"hgvs_p": null,
"transcript": "ENST00000789312.1",
"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": "pseudogene",
"feature": "ENST00000789312.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CSRP3-AS1",
"gene_hgnc_id": 54183,
"hgvs_c": "n.103+14803T>A",
"hgvs_p": null,
"transcript": "ENST00000789313.1",
"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": "pseudogene",
"feature": "ENST00000789313.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CSRP3-AS1",
"gene_hgnc_id": 54183,
"hgvs_c": "n.103+14803T>A",
"hgvs_p": null,
"transcript": "ENST00000789314.1",
"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": "pseudogene",
"feature": "ENST00000789314.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CSRP3-AS1",
"gene_hgnc_id": 54183,
"hgvs_c": "n.99+14803T>A",
"hgvs_p": null,
"transcript": "ENST00000789315.1",
"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,
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"intron_variant"
],
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"exon_count": 6,
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"gene_symbol": "CSRP3-AS1",
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"cds_start": null,
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"biotype": "pseudogene",
"feature": "ENST00000850663.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
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"intron_variant"
],
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"exon_count": 6,
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"gene_symbol": "CSRP3-AS1",
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"hgvs_c": "n.208-27517T>A",
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"transcript": "NR_183675.1",
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"biotype": "pseudogene",
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],
"gene_symbol": "E2F8",
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"dbsnp": "rs137938238",
"frequency_reference_population": 6.840441e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84044e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07719174027442932,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.051,
"revel_prediction": "Benign",
"alphamissense_score": 0.107,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.338,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024680.4",
"gene_symbol": "E2F8",
"hgnc_id": 24727,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2534A>T",
"hgvs_p": "p.Asn845Ile"
},
{
"score": 0,
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_183675.1",
"gene_symbol": "CSRP3-AS1",
"hgnc_id": 54183,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.208-27517T>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
}