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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: 12-2798782-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=2798782&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 2798782,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002014.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP4",
"gene_hgnc_id": 3720,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "NM_002014.4",
"protein_id": "NP_002005.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 459,
"cds_start": 470,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000001008.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002014.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP4",
"gene_hgnc_id": 3720,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "ENST00000001008.6",
"protein_id": "ENSP00000001008.4",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 459,
"cds_start": 470,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002014.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000001008.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP4",
"gene_hgnc_id": 3720,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "ENST00000904914.1",
"protein_id": "ENSP00000574973.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 468,
"cds_start": 470,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904914.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP4",
"gene_hgnc_id": 3720,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "ENST00000958550.1",
"protein_id": "ENSP00000628610.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 459,
"cds_start": 470,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958550.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP4",
"gene_hgnc_id": 3720,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "ENST00000958553.1",
"protein_id": "ENSP00000628612.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 459,
"cds_start": 470,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958553.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP4",
"gene_hgnc_id": 3720,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "ENST00000958557.1",
"protein_id": "ENSP00000628615.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 459,
"cds_start": 470,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958557.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP4",
"gene_hgnc_id": 3720,
"hgvs_c": "c.464G>A",
"hgvs_p": "p.Arg155His",
"transcript": "ENST00000928151.1",
"protein_id": "ENSP00000598210.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 457,
"cds_start": 464,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928151.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP4",
"gene_hgnc_id": 3720,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "ENST00000958556.1",
"protein_id": "ENSP00000628614.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 457,
"cds_start": 470,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958556.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP4",
"gene_hgnc_id": 3720,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "ENST00000904913.1",
"protein_id": "ENSP00000574972.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 426,
"cds_start": 470,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904913.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP4",
"gene_hgnc_id": 3720,
"hgvs_c": "c.320G>A",
"hgvs_p": "p.Arg107His",
"transcript": "ENST00000958558.1",
"protein_id": "ENSP00000628616.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 409,
"cds_start": 320,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958558.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP4",
"gene_hgnc_id": 3720,
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His",
"transcript": "ENST00000928152.1",
"protein_id": "ENSP00000598211.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 397,
"cds_start": 470,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928152.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP4",
"gene_hgnc_id": 3720,
"hgvs_c": "c.182G>A",
"hgvs_p": "p.Arg61His",
"transcript": "ENST00000958555.1",
"protein_id": "ENSP00000628613.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 363,
"cds_start": 182,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958555.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP4",
"gene_hgnc_id": 3720,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Arg54His",
"transcript": "ENST00000904915.1",
"protein_id": "ENSP00000574974.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 356,
"cds_start": 161,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904915.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP4",
"gene_hgnc_id": 3720,
"hgvs_c": "c.335G>A",
"hgvs_p": "p.Arg112His",
"transcript": "XM_047428539.1",
"protein_id": "XP_047284495.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 414,
"cds_start": 335,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428539.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FKBP4",
"gene_hgnc_id": 3720,
"hgvs_c": "n.16G>A",
"hgvs_p": null,
"transcript": "ENST00000543037.1",
"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": "ENST00000543037.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITFG2-AS1",
"gene_hgnc_id": 53128,
"hgvs_c": "n.342-1836C>T",
"hgvs_p": null,
"transcript": "ENST00000540093.2",
"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": "ENST00000540093.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ITFG2-AS1",
"gene_hgnc_id": 53128,
"hgvs_c": "n.547-1836C>T",
"hgvs_p": null,
"transcript": "ENST00000545526.2",
"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": "pseudogene",
"feature": "ENST00000545526.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITFG2-AS1",
"gene_hgnc_id": 53128,
"hgvs_c": "n.151-1510C>T",
"hgvs_p": null,
"transcript": "ENST00000547042.1",
"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": "ENST00000547042.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITFG2-AS1",
"gene_hgnc_id": 53128,
"hgvs_c": "n.342-1836C>T",
"hgvs_p": null,
"transcript": "ENST00000547834.1",
"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": "ENST00000547834.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITFG2-AS1",
"gene_hgnc_id": 53128,
"hgvs_c": "n.335-1510C>T",
"hgvs_p": null,
"transcript": "ENST00000715731.1",
"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": "ENST00000715731.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITFG2-AS1",
"gene_hgnc_id": 53128,
"hgvs_c": "n.335-1836C>T",
"hgvs_p": null,
"transcript": "ENST00000715732.1",
"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": "ENST00000715732.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ITFG2-AS1",
"gene_hgnc_id": 53128,
"hgvs_c": "n.322-1510C>T",
"hgvs_p": null,
"transcript": "ENST00000839347.1",
"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": "ENST00000839347.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
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"aa_length": null,
"cds_start": null,
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"biotype": "pseudogene",
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
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"gene_symbol": "ITFG2-AS1",
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"hgvs_c": "n.364-1836C>T",
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"transcript": "NR_146317.1",
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"biotype": "pseudogene",
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}
],
"gene_symbol": "FKBP4",
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"dbsnp": "rs1062478",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000684053,
"gnomad_genomes_af": 0.0000197153,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 3,
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"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.36721891164779663,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5699999928474426,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.409,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1364,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.977,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.57,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002014.4",
"gene_symbol": "FKBP4",
"hgnc_id": 3720,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.470G>A",
"hgvs_p": "p.Arg157His"
},
{
"score": 3,
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"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000545526.2",
"gene_symbol": "ITFG2-AS1",
"hgnc_id": 53128,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.547-1836C>T",
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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
}