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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: 9-36211653-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=36211653&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 36211653,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007096.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.536C>T",
"hgvs_p": "p.Thr179Ile",
"transcript": "NM_001833.4",
"protein_id": "NP_001824.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 218,
"cds_start": 536,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000345519.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001833.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.536C>T",
"hgvs_p": "p.Thr179Ile",
"transcript": "ENST00000345519.10",
"protein_id": "ENSP00000242284.6",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 218,
"cds_start": 536,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001833.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345519.10"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Thr209Ile",
"transcript": "ENST00000242285.11",
"protein_id": "ENSP00000242285.6",
"transcript_support_level": 1,
"aa_start": 209,
"aa_end": null,
"aa_length": 248,
"cds_start": 626,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000242285.11"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.590C>T",
"hgvs_p": "p.Thr197Ile",
"transcript": "ENST00000396603.6",
"protein_id": "ENSP00000379848.2",
"transcript_support_level": 1,
"aa_start": 197,
"aa_end": null,
"aa_length": 236,
"cds_start": 590,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396603.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Thr209Ile",
"transcript": "NM_007096.4",
"protein_id": "NP_009027.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 248,
"cds_start": 626,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007096.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.590C>T",
"hgvs_p": "p.Thr197Ile",
"transcript": "NM_001076677.3",
"protein_id": "NP_001070145.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 236,
"cds_start": 590,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001076677.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Thr191Ile",
"transcript": "NM_001184760.2",
"protein_id": "NP_001171689.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 230,
"cds_start": 572,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184760.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.572C>T",
"hgvs_p": "p.Thr191Ile",
"transcript": "ENST00000470744.5",
"protein_id": "ENSP00000419746.1",
"transcript_support_level": 2,
"aa_start": 191,
"aa_end": null,
"aa_length": 230,
"cds_start": 572,
"cds_end": null,
"cds_length": 693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470744.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.536C>T",
"hgvs_p": "p.Thr179Ile",
"transcript": "ENST00000869064.1",
"protein_id": "ENSP00000539123.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 218,
"cds_start": 536,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869064.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.530C>T",
"hgvs_p": "p.Thr177Ile",
"transcript": "ENST00000938561.1",
"protein_id": "ENSP00000608620.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 216,
"cds_start": 530,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938561.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.488C>T",
"hgvs_p": "p.Thr163Ile",
"transcript": "ENST00000869066.1",
"protein_id": "ENSP00000539125.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 202,
"cds_start": 488,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869066.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Thr157Ile",
"transcript": "NM_001311204.2",
"protein_id": "NP_001298133.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 196,
"cds_start": 470,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001311204.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Thr157Ile",
"transcript": "ENST00000466396.6",
"protein_id": "ENSP00000417698.1",
"transcript_support_level": 2,
"aa_start": 157,
"aa_end": null,
"aa_length": 196,
"cds_start": 470,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000466396.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.434C>T",
"hgvs_p": "p.Thr145Ile",
"transcript": "ENST00000869065.1",
"protein_id": "ENSP00000539124.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 184,
"cds_start": 434,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869065.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Thr139Ile",
"transcript": "NM_001311205.2",
"protein_id": "NP_001298134.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 178,
"cds_start": 416,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001311205.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.416C>T",
"hgvs_p": "p.Thr139Ile",
"transcript": "ENST00000950945.1",
"protein_id": "ENSP00000621004.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 178,
"cds_start": 416,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950945.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.380C>T",
"hgvs_p": "p.Thr127Ile",
"transcript": "NM_001184762.2",
"protein_id": "NP_001171691.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 166,
"cds_start": 380,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184762.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.380C>T",
"hgvs_p": "p.Thr127Ile",
"transcript": "ENST00000540080.5",
"protein_id": "ENSP00000437508.1",
"transcript_support_level": 2,
"aa_start": 127,
"aa_end": null,
"aa_length": 166,
"cds_start": 380,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540080.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.302C>T",
"hgvs_p": "p.Thr101Ile",
"transcript": "NM_001311203.2",
"protein_id": "NP_001298132.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 140,
"cds_start": 302,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001311203.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.185C>T",
"hgvs_p": "p.Thr62Ile",
"transcript": "NM_001311206.2",
"protein_id": "NP_001298135.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 101,
"cds_start": 185,
"cds_end": null,
"cds_length": 306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001311206.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Thr131Ile",
"transcript": "XM_017014257.2",
"protein_id": "XP_016869746.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 170,
"cds_start": 392,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014257.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Thr113Ile",
"transcript": "XM_017014258.2",
"protein_id": "XP_016869747.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 152,
"cds_start": 338,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014258.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "c.*24C>T",
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"transcript": "NM_001184761.2",
"protein_id": "NP_001171690.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": null,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184761.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "n.*115C>T",
"hgvs_p": null,
"transcript": "ENST00000493185.2",
"protein_id": "ENSP00000474266.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000493185.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "n.554C>T",
"hgvs_p": null,
"transcript": "NR_132349.2",
"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": "NR_132349.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "n.*115C>T",
"hgvs_p": null,
"transcript": "ENST00000493185.2",
"protein_id": "ENSP00000474266.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000493185.2"
},
{
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"hgvs_c": "n.485+7474C>T",
"hgvs_p": null,
"transcript": "ENST00000464497.5",
"protein_id": "ENSP00000419158.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000464497.5"
},
{
"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": "LOC124902151",
"gene_hgnc_id": null,
"hgvs_c": "n.726+1633G>A",
"hgvs_p": null,
"transcript": "XR_007061474.1",
"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": "XR_007061474.1"
}
],
"gene_symbol": "CLTA",
"gene_hgnc_id": 2090,
"dbsnp": "rs376307351",
"frequency_reference_population": 0.000013011636,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000136823,
"gnomad_genomes_af": 0.00000657056,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6882504820823669,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.783,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9126,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_007096.4",
"gene_symbol": "CLTA",
"hgnc_id": 2090,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.626C>T",
"hgvs_p": "p.Thr209Ile"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007061474.1",
"gene_symbol": "LOC124902151",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.726+1633G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}