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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: 3-33535343-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=33535343&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 33535343,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001365628.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.3677C>T",
"hgvs_p": "p.Pro1226Leu",
"transcript": "NM_001365631.1",
"protein_id": "NP_001352560.1",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1506,
"cds_start": 3677,
"cds_end": null,
"cds_length": 4521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682230.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365631.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.3677C>T",
"hgvs_p": "p.Pro1226Leu",
"transcript": "ENST00000682230.1",
"protein_id": "ENSP00000507498.1",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1506,
"cds_start": 3677,
"cds_end": null,
"cds_length": 4521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365631.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682230.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.3764C>T",
"hgvs_p": "p.Pro1255Leu",
"transcript": "NM_001365628.1",
"protein_id": "NP_001352557.1",
"transcript_support_level": null,
"aa_start": 1255,
"aa_end": null,
"aa_length": 1535,
"cds_start": 3764,
"cds_end": null,
"cds_length": 4608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365628.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.3761C>T",
"hgvs_p": "p.Pro1254Leu",
"transcript": "NM_001365629.1",
"protein_id": "NP_001352558.1",
"transcript_support_level": null,
"aa_start": 1254,
"aa_end": null,
"aa_length": 1534,
"cds_start": 3761,
"cds_end": null,
"cds_length": 4605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365629.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.3740C>T",
"hgvs_p": "p.Pro1247Leu",
"transcript": "NM_001365627.1",
"protein_id": "NP_001352556.1",
"transcript_support_level": null,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1527,
"cds_start": 3740,
"cds_end": null,
"cds_length": 4584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365627.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.3737C>T",
"hgvs_p": "p.Pro1246Leu",
"transcript": "NM_001375694.1",
"protein_id": "NP_001362623.1",
"transcript_support_level": null,
"aa_start": 1246,
"aa_end": null,
"aa_length": 1526,
"cds_start": 3737,
"cds_end": null,
"cds_length": 4581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375694.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.3713C>T",
"hgvs_p": "p.Pro1238Leu",
"transcript": "NM_001375697.1",
"protein_id": "NP_001362626.1",
"transcript_support_level": null,
"aa_start": 1238,
"aa_end": null,
"aa_length": 1518,
"cds_start": 3713,
"cds_end": null,
"cds_length": 4557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375697.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.3704C>T",
"hgvs_p": "p.Pro1235Leu",
"transcript": "NM_015097.3",
"protein_id": "NP_055912.2",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1515,
"cds_start": 3704,
"cds_end": null,
"cds_length": 4548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015097.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.3701C>T",
"hgvs_p": "p.Pro1234Leu",
"transcript": "NM_001375700.1",
"protein_id": "NP_001362629.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1514,
"cds_start": 3701,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375700.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.3701C>T",
"hgvs_p": "p.Pro1234Leu",
"transcript": "NM_001375701.1",
"protein_id": "NP_001362630.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1514,
"cds_start": 3701,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375701.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.3701C>T",
"hgvs_p": "p.Pro1234Leu",
"transcript": "ENST00000468888.6",
"protein_id": "ENSP00000419974.2",
"transcript_support_level": 5,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1514,
"cds_start": 3701,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000468888.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.3698C>T",
"hgvs_p": "p.Pro1233Leu",
"transcript": "ENST00000399362.8",
"protein_id": "ENSP00000382297.4",
"transcript_support_level": 5,
"aa_start": 1233,
"aa_end": null,
"aa_length": 1513,
"cds_start": 3698,
"cds_end": null,
"cds_length": 4542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399362.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.3686C>T",
"hgvs_p": "p.Pro1229Leu",
"transcript": "NM_001365630.1",
"protein_id": "NP_001352559.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1509,
"cds_start": 3686,
"cds_end": null,
"cds_length": 4530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365630.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.3683C>T",
"hgvs_p": "p.Pro1228Leu",
"transcript": "NM_001375705.1",
"protein_id": "NP_001362634.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1508,
"cds_start": 3683,
"cds_end": null,
"cds_length": 4527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375705.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.3677C>T",
"hgvs_p": "p.Pro1226Leu",
"transcript": "NM_001400405.1",
"protein_id": "NP_001387334.1",
"transcript_support_level": null,
"aa_start": 1226,
"aa_end": null,
"aa_length": 1506,
"cds_start": 3677,
"cds_end": null,
"cds_length": 4521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400405.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.3674C>T",
"hgvs_p": "p.Pro1225Leu",
"transcript": "NM_001365632.1",
"protein_id": "NP_001352561.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1505,
"cds_start": 3674,
"cds_end": null,
"cds_length": 4518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365632.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.3674C>T",
"hgvs_p": "p.Pro1225Leu",
"transcript": "ENST00000912539.1",
"protein_id": "ENSP00000582598.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1505,
"cds_start": 3674,
"cds_end": null,
"cds_length": 4518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912539.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.3653C>T",
"hgvs_p": "p.Pro1218Leu",
"transcript": "ENST00000912540.1",
"protein_id": "ENSP00000582599.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1498,
"cds_start": 3653,
"cds_end": null,
"cds_length": 4497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912540.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.3638C>T",
"hgvs_p": "p.Pro1213Leu",
"transcript": "NM_001365633.1",
"protein_id": "NP_001352562.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1493,
"cds_start": 3638,
"cds_end": null,
"cds_length": 4482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365633.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.3635C>T",
"hgvs_p": "p.Pro1212Leu",
"transcript": "NM_001365634.1",
"protein_id": "NP_001352563.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1492,
"cds_start": 3635,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365634.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.3635C>T",
"hgvs_p": "p.Pro1212Leu",
"transcript": "NM_001375703.1",
"protein_id": "NP_001362632.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1492,
"cds_start": 3635,
"cds_end": null,
"cds_length": 4479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375703.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"hgvs_c": "c.3635C>T",
"hgvs_p": "p.Pro1212Leu",
"transcript": "ENST00000895686.1",
"protein_id": "ENSP00000565745.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1492,
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"canonical": false,
"protein_coding": true,
"strand": false,
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{
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},
{
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"protein_coding": true,
"strand": false,
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],
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"hgvs_p": "p.Pro1007Leu",
"transcript": "XM_047447762.1",
"protein_id": "XP_047303718.1",
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{
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"protein_coding": true,
"strand": false,
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],
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"transcript": "XM_047447763.1",
"protein_id": "XP_047303719.1",
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"biotype": "protein_coding",
"feature": "XM_047447763.1"
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{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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"exon_count": 32,
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"gene_symbol": "CLASP2",
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"hgvs_c": "c.2987C>T",
"hgvs_p": "p.Pro996Leu",
"transcript": "XM_047447764.1",
"protein_id": "XP_047303720.1",
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"feature": "XM_047447764.1"
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
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"gene_symbol": "CLASP2",
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"hgvs_c": "n.104C>T",
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"transcript": "ENST00000476251.1",
"protein_id": "ENSP00000418488.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000476251.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 4,
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"gene_symbol": "CLASP2",
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"hgvs_c": "n.*30C>T",
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"transcript": "ENST00000494261.1",
"protein_id": null,
"transcript_support_level": 4,
"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,
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"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000494261.1"
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],
"gene_symbol": "CLASP2",
"gene_hgnc_id": 17078,
"dbsnp": "rs370607793",
"frequency_reference_population": 0.000013013217,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000136833,
"gnomad_genomes_af": 0.00000657428,
"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": 0.40937456488609314,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.206,
"revel_prediction": "Benign",
"alphamissense_score": 0.0925,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.051,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001365628.1",
"gene_symbol": "CLASP2",
"hgnc_id": 17078,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3764C>T",
"hgvs_p": "p.Pro1255Leu"
}
],
"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
}