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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: 1-145927328-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=145927328&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 145927328,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000583313.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBM8A",
"gene_hgnc_id": 9905,
"hgvs_c": "c.67+32G>C",
"hgvs_p": null,
"transcript": "NM_005105.5",
"protein_id": "NP_005096.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4909,
"mane_select": "ENST00000583313.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBM8A",
"gene_hgnc_id": 9905,
"hgvs_c": "c.67+32G>C",
"hgvs_p": null,
"transcript": "ENST00000583313.7",
"protein_id": "ENSP00000463058.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4909,
"mane_select": "NM_005105.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBM8A",
"gene_hgnc_id": 9905,
"hgvs_c": "c.67+32G>C",
"hgvs_p": null,
"transcript": "ENST00000369307.4",
"protein_id": "ENSP00000358313.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 173,
"cds_start": -4,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000280778",
"gene_hgnc_id": null,
"hgvs_c": "c.-30+39C>G",
"hgvs_p": null,
"transcript": "ENST00000625258.1",
"protein_id": "ENSP00000487094.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 42,
"cds_start": -4,
"cds_end": null,
"cds_length": 131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIX1L-AS1",
"gene_hgnc_id": 41210,
"hgvs_c": "n.337C>G",
"hgvs_p": null,
"transcript": "ENST00000412239.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIX1L-AS1",
"gene_hgnc_id": 41210,
"hgvs_c": "n.224C>G",
"hgvs_p": null,
"transcript": "ENST00000437797.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "LIX1L-AS1",
"gene_hgnc_id": 41210,
"hgvs_c": "n.438C>G",
"hgvs_p": null,
"transcript": "ENST00000447686.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIX1L-AS1",
"gene_hgnc_id": 41210,
"hgvs_c": "n.93C>G",
"hgvs_p": null,
"transcript": "ENST00000595494.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "LIX1L-AS1",
"gene_hgnc_id": 41210,
"hgvs_c": "n.93C>G",
"hgvs_p": null,
"transcript": "ENST00000595518.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "LIX1L-AS1",
"gene_hgnc_id": 41210,
"hgvs_c": "n.362C>G",
"hgvs_p": null,
"transcript": "ENST00000596355.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIX1L-AS1",
"gene_hgnc_id": 41210,
"hgvs_c": "n.93C>G",
"hgvs_p": null,
"transcript": "ENST00000597144.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIX1L-AS1",
"gene_hgnc_id": 41210,
"hgvs_c": "n.93C>G",
"hgvs_p": null,
"transcript": "ENST00000598103.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIX1L-AS1",
"gene_hgnc_id": 41210,
"hgvs_c": "n.93C>G",
"hgvs_p": null,
"transcript": "ENST00000598354.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": "LIX1L-AS1",
"gene_hgnc_id": 41210,
"hgvs_c": "n.93C>G",
"hgvs_p": null,
"transcript": "ENST00000599147.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIX1L-AS1",
"gene_hgnc_id": 41210,
"hgvs_c": "n.93C>G",
"hgvs_p": null,
"transcript": "ENST00000599469.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIX1L-AS1",
"gene_hgnc_id": 41210,
"hgvs_c": "n.93C>G",
"hgvs_p": null,
"transcript": "ENST00000599626.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"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,
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"gene_symbol": "LIX1L-AS1",
"gene_hgnc_id": 41210,
"hgvs_c": "n.93C>G",
"hgvs_p": null,
"transcript": "ENST00000600340.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIX1L-AS1",
"gene_hgnc_id": 41210,
"hgvs_c": "n.93C>G",
"hgvs_p": null,
"transcript": "ENST00000601726.3",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIX1L-AS1",
"gene_hgnc_id": 41210,
"hgvs_c": "n.93C>G",
"hgvs_p": null,
"transcript": "ENST00000630257.2",
"protein_id": null,
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"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000280778",
"gene_hgnc_id": null,
"hgvs_c": "n.71C>G",
"hgvs_p": null,
"transcript": "ENST00000630636.1",
"protein_id": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIX1L-AS1",
"gene_hgnc_id": 41210,
"hgvs_c": "n.381C>G",
"hgvs_p": null,
"transcript": "NR_147182.1",
"protein_id": null,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBM8A",
"gene_hgnc_id": 9905,
"hgvs_c": "c.67+32G>C",
"hgvs_p": null,
"transcript": "ENST00000632555.1",
"protein_id": "ENSP00000488265.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBM8A",
"gene_hgnc_id": 9905,
"hgvs_c": "c.67+32G>C",
"hgvs_p": null,
"transcript": "ENST00000691760.1",
"protein_id": "ENSP00000510519.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 174,
"cds_start": -4,
"cds_end": null,
"cds_length": 525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": false,
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"intron_rank": 1,
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"gene_symbol": "RBM8A",
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},
{
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},
{
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"exon_count": 3,
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"gene_symbol": "RBM8A",
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"transcript": "ENST00000634161.1",
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},
{
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"protein_coding": false,
"strand": false,
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "RBM8A",
"gene_hgnc_id": 9905,
"hgvs_c": "n.105+32G>C",
"hgvs_p": null,
"transcript": "ENST00000692065.1",
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"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cds_end": null,
"cds_length": null,
"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIX1L-AS1",
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"transcript": "ENST00000448561.5",
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIX1L-AS1",
"gene_hgnc_id": 41210,
"hgvs_c": "n.*214C>G",
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"transcript": "ENST00000840614.1",
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"cds_end": null,
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"cdna_length": 198,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RBM8A",
"gene_hgnc_id": 9905,
"dbsnp": "rs201779890",
"frequency_reference_population": 0.004824785,
"hom_count_reference_population": 52,
"allele_count_reference_population": 7738,
"gnomad_exomes_af": 0.00481832,
"gnomad_genomes_af": 0.00488644,
"gnomad_exomes_ac": 6994,
"gnomad_genomes_ac": 744,
"gnomad_exomes_homalt": 47,
"gnomad_genomes_homalt": 5,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.36000001430511475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.828,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP5_Very_Strong,BP4,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 6,
"pathogenic_score": 8,
"criteria": [
"PP5_Very_Strong",
"BP4",
"BS1_Supporting",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000583313.7",
"gene_symbol": "RBM8A",
"hgnc_id": 9905,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.67+32G>C",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 5,
"pathogenic_score": 8,
"criteria": [
"PP5_Very_Strong",
"BP4",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000625258.1",
"gene_symbol": "ENSG00000280778",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-30+39C>G",
"hgvs_p": null
},
{
"score": 3,
"benign_score": 5,
"pathogenic_score": 8,
"criteria": [
"PP5_Very_Strong",
"BP4",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000412239.1",
"gene_symbol": "LIX1L-AS1",
"hgnc_id": 41210,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.337C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Abnormal brain morphology,Clinodactyly of the 5th finger,Global developmental delay,RBM8A-related disorder,Radial aplasia-thrombocytopenia syndrome,not provided",
"clinvar_classification": " low penetrance,Pathogenic/Likely pathogenic/Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:10 LP:2 O:1",
"phenotype_combined": "Radial aplasia-thrombocytopenia syndrome|not provided|Abnormal brain morphology;Global developmental delay;Clinodactyly of the 5th finger|RBM8A-related disorder",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic/Pathogenic, low penetrance",
"custom_annotations": null
}
],
"message": null
}