← Back to variant description
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: 15-36697379-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=36697379&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 36697379,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000566621.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.533T>A",
"hgvs_p": "p.Leu178Gln",
"transcript": "NM_001321759.2",
"protein_id": "NP_001308688.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 281,
"cds_start": 533,
"cds_end": null,
"cds_length": 846,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 2872,
"mane_select": "ENST00000566621.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.533T>A",
"hgvs_p": "p.Leu178Gln",
"transcript": "ENST00000566621.6",
"protein_id": "ENSP00000455397.1",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 281,
"cds_start": 533,
"cds_end": null,
"cds_length": 846,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 2872,
"mane_select": "NM_001321759.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.533T>A",
"hgvs_p": "p.Leu178Gln",
"transcript": "ENST00000437989.6",
"protein_id": "ENSP00000401362.2",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 281,
"cds_start": 533,
"cds_end": null,
"cds_length": 846,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 2240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.239T>A",
"hgvs_p": "p.Leu80Gln",
"transcript": "ENST00000562877.5",
"protein_id": "ENSP00000457854.1",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 183,
"cds_start": 239,
"cds_end": null,
"cds_length": 552,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.239T>A",
"hgvs_p": "p.Leu80Gln",
"transcript": "ENST00000567389.5",
"protein_id": "ENSP00000456736.1",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 183,
"cds_start": 239,
"cds_end": null,
"cds_length": 552,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 2618,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "n.161T>A",
"hgvs_p": null,
"transcript": "ENST00000565792.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.533T>A",
"hgvs_p": "p.Leu178Gln",
"transcript": "NM_001321761.2",
"protein_id": "NP_001308690.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 287,
"cds_start": 533,
"cds_end": null,
"cds_length": 864,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 2890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.533T>A",
"hgvs_p": "p.Leu178Gln",
"transcript": "ENST00000569302.6",
"protein_id": "ENSP00000456477.1",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 287,
"cds_start": 533,
"cds_end": null,
"cds_length": 864,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.533T>A",
"hgvs_p": "p.Leu178Gln",
"transcript": "NM_001290233.2",
"protein_id": "NP_001277162.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 286,
"cds_start": 533,
"cds_end": null,
"cds_length": 861,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 1258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.533T>A",
"hgvs_p": "p.Leu178Gln",
"transcript": "ENST00000570265.6",
"protein_id": "ENSP00000493669.1",
"transcript_support_level": 2,
"aa_start": 178,
"aa_end": null,
"aa_length": 286,
"cds_start": 533,
"cds_end": null,
"cds_length": 861,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 1250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.533T>A",
"hgvs_p": "p.Leu178Gln",
"transcript": "NM_001130010.3",
"protein_id": "NP_001123482.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 281,
"cds_start": 533,
"cds_end": null,
"cds_length": 846,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 2458,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.422T>A",
"hgvs_p": "p.Leu141Gln",
"transcript": "NM_001321758.2",
"protein_id": "NP_001308687.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 244,
"cds_start": 422,
"cds_end": null,
"cds_length": 735,
"cdna_start": 657,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.533T>A",
"hgvs_p": "p.Leu178Gln",
"transcript": "NM_001321760.2",
"protein_id": "NP_001308689.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 208,
"cds_start": 533,
"cds_end": null,
"cds_length": 627,
"cdna_start": 768,
"cdna_end": null,
"cdna_length": 2766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.533T>A",
"hgvs_p": "p.Leu178Gln",
"transcript": "ENST00000646533.1",
"protein_id": "ENSP00000494718.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 208,
"cds_start": 533,
"cds_end": null,
"cds_length": 627,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.239T>A",
"hgvs_p": "p.Leu80Gln",
"transcript": "NM_001290232.2",
"protein_id": "NP_001277161.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 183,
"cds_start": 239,
"cds_end": null,
"cds_length": 552,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.239T>A",
"hgvs_p": "p.Leu80Gln",
"transcript": "NM_001321756.2",
"protein_id": "NP_001308685.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 183,
"cds_start": 239,
"cds_end": null,
"cds_length": 552,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.239T>A",
"hgvs_p": "p.Leu80Gln",
"transcript": "NM_032499.6",
"protein_id": "NP_115888.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 183,
"cds_start": 239,
"cds_end": null,
"cds_length": 552,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.239T>A",
"hgvs_p": "p.Leu80Gln",
"transcript": "ENST00000338183.8",
"protein_id": "ENSP00000342433.4",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 183,
"cds_start": 239,
"cds_end": null,
"cds_length": 552,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.164T>A",
"hgvs_p": "p.Leu55Gln",
"transcript": "NM_001321757.2",
"protein_id": "NP_001308686.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 158,
"cds_start": 164,
"cds_end": null,
"cds_length": 477,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.164T>A",
"hgvs_p": "p.Leu55Gln",
"transcript": "ENST00000643612.1",
"protein_id": "ENSP00000496325.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 158,
"cds_start": 164,
"cds_end": null,
"cds_length": 477,
"cdna_start": 583,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.239T>A",
"hgvs_p": "p.Leu80Gln",
"transcript": "ENST00000566807.5",
"protein_id": "ENSP00000454831.1",
"transcript_support_level": 4,
"aa_start": 80,
"aa_end": null,
"aa_length": 121,
"cds_start": 239,
"cds_end": null,
"cds_length": 367,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.239T>A",
"hgvs_p": "p.Leu80Gln",
"transcript": "XM_047433174.1",
"protein_id": "XP_047289130.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 183,
"cds_start": 239,
"cds_end": null,
"cds_length": 552,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 2927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.164T>A",
"hgvs_p": "p.Leu55Gln",
"transcript": "XM_047433176.1",
"protein_id": "XP_047289132.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 158,
"cds_start": 164,
"cds_end": null,
"cds_length": 477,
"cdna_start": 212,
"cdna_end": null,
"cdna_length": 2316,
"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": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "n.*313T>A",
"hgvs_p": null,
"transcript": "ENST00000642817.1",
"protein_id": "ENSP00000495947.1",
"transcript_support_level": null,
"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": 2506,
"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": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "n.*165T>A",
"hgvs_p": null,
"transcript": "ENST00000646657.1",
"protein_id": "ENSP00000495542.1",
"transcript_support_level": null,
"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": 2137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "n.*313T>A",
"hgvs_p": null,
"transcript": "ENST00000642817.1",
"protein_id": "ENSP00000495947.1",
"transcript_support_level": null,
"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": 2506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "n.*165T>A",
"hgvs_p": null,
"transcript": "ENST00000646657.1",
"protein_id": "ENSP00000495542.1",
"transcript_support_level": null,
"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": 2137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.347-11844T>A",
"hgvs_p": null,
"transcript": "XM_017022676.2",
"protein_id": "XP_016878165.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": -4,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"hgvs_c": "c.347-11844T>A",
"hgvs_p": null,
"transcript": "XM_017022677.2",
"protein_id": "XP_016878166.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": -4,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CDIN1",
"gene_hgnc_id": 26929,
"dbsnp": "rs587777100",
"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": 0.7501261234283447,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.523,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8256,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.516,
"phylop100way_prediction": "Uncertain_significance",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5_Moderate",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000566621.6",
"gene_symbol": "CDIN1",
"hgnc_id": 26929,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.533T>A",
"hgvs_p": "p.Leu178Gln"
}
],
"clinvar_disease": "Congenital dyserythropoietic anemia type type 1B",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1 O:1",
"phenotype_combined": "Congenital dyserythropoietic anemia type type 1B",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}