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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: 4-107895701-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=107895701&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 107895701,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_152621.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "NM_001375905.1",
"protein_id": "NP_001362834.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 365,
"cds_start": 148,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000690982.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375905.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "ENST00000690982.1",
"protein_id": "ENSP00000508566.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 365,
"cds_start": 148,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001375905.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690982.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "ENST00000359079.8",
"protein_id": "ENSP00000351981.4",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 365,
"cds_start": 148,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359079.8"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "ENST00000394684.8",
"protein_id": "ENSP00000378176.4",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 365,
"cds_start": 148,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394684.8"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "ENST00000394686.3",
"protein_id": "ENSP00000378178.3",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 365,
"cds_start": 148,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394686.3"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "NM_001136257.2",
"protein_id": "NP_001129729.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 365,
"cds_start": 148,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136257.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "NM_001136258.2",
"protein_id": "NP_001129730.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 365,
"cds_start": 148,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136258.2"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "NM_001375906.1",
"protein_id": "NP_001362835.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 365,
"cds_start": 148,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375906.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "NM_001375907.1",
"protein_id": "NP_001362836.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 365,
"cds_start": 148,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375907.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "NM_001375908.1",
"protein_id": "NP_001362837.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 365,
"cds_start": 148,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375908.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "NM_152621.6",
"protein_id": "NP_689834.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 365,
"cds_start": 148,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152621.6"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "ENST00000856649.1",
"protein_id": "ENSP00000526708.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 365,
"cds_start": 148,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856649.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "ENST00000856650.1",
"protein_id": "ENSP00000526709.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 365,
"cds_start": 148,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856650.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "ENST00000856651.1",
"protein_id": "ENSP00000526710.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 365,
"cds_start": 148,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856651.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "ENST00000856652.1",
"protein_id": "ENSP00000526711.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 365,
"cds_start": 148,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856652.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "ENST00000856653.1",
"protein_id": "ENSP00000526712.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 365,
"cds_start": 148,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856653.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "ENST00000856654.1",
"protein_id": "ENSP00000526713.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 365,
"cds_start": 148,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856654.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "ENST00000856655.1",
"protein_id": "ENSP00000526714.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 365,
"cds_start": 148,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856655.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "ENST00000856656.1",
"protein_id": "ENSP00000526715.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 365,
"cds_start": 148,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856656.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "ENST00000944788.1",
"protein_id": "ENSP00000614847.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 365,
"cds_start": 148,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944788.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "ENST00000944789.1",
"protein_id": "ENSP00000614848.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 365,
"cds_start": 148,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944789.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*",
"transcript": "ENST00000944790.1",
"protein_id": "ENSP00000614849.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 365,
"cds_start": 148,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944790.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 33,
"cds_start": null,
"cds_end": null,
"cds_length": 104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506993.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"hgvs_c": "n.*154C>T",
"hgvs_p": null,
"transcript": "ENST00000506462.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000506462.5"
}
],
"gene_symbol": "SGMS2",
"gene_hgnc_id": 28395,
"dbsnp": "rs1560667389",
"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": 0.5400000214576721,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.54,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.691,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_152621.6",
"gene_symbol": "SGMS2",
"hgnc_id": 28395,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.148C>T",
"hgvs_p": "p.Arg50*"
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000499098.1",
"gene_symbol": "CYP2U1-AS1",
"hgnc_id": 54817,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.150-2064G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia,Calvarial doughnut lesions-bone fragility syndrome,Inborn genetic diseases,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6 LP:1",
"phenotype_combined": "Calvarial doughnut lesions-bone fragility syndrome|Inborn genetic diseases|not provided|Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}