← 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: 2-121530895-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=121530895&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 121530895,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000696935.1",
"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": 41,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "NM_001395891.1",
"protein_id": "NP_001382820.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1559,
"cds_start": -4,
"cds_end": null,
"cds_length": 4680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8141,
"mane_select": "ENST00000696935.1",
"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": 41,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "ENST00000696935.1",
"protein_id": "ENSP00000512981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1559,
"cds_start": -4,
"cds_end": null,
"cds_length": 4680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8141,
"mane_select": "NM_001395891.1",
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNU4ATAC",
"gene_hgnc_id": 34016,
"hgvs_c": "n.16G>C",
"hgvs_p": null,
"transcript": "ENST00000580972.2",
"protein_id": null,
"transcript_support_level": 6,
"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": 130,
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNU4ATAC",
"gene_hgnc_id": 34016,
"hgvs_c": "n.16G>C",
"hgvs_p": null,
"transcript": "NR_023343.3",
"protein_id": null,
"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": 130,
"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": 40,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "NM_015282.3",
"protein_id": "NP_056097.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1538,
"cds_start": -4,
"cds_end": null,
"cds_length": 4617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8078,
"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": 40,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "ENST00000263710.8",
"protein_id": "ENSP00000263710.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1538,
"cds_start": -4,
"cds_end": null,
"cds_length": 4617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8092,
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "NM_001378003.1",
"protein_id": "NP_001364932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1506,
"cds_start": -4,
"cds_end": null,
"cds_length": 4521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7982,
"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": 40,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "NM_001142273.2",
"protein_id": "NP_001135745.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1479,
"cds_start": -4,
"cds_end": null,
"cds_length": 4440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7901,
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "ENST00000455322.7",
"protein_id": "ENSP00000389372.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1478,
"cds_start": -4,
"cds_end": null,
"cds_length": 4437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7874,
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "NM_001207051.2",
"protein_id": "NP_001193980.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1477,
"cds_start": -4,
"cds_end": null,
"cds_length": 4434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7895,
"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": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "NM_001378005.1",
"protein_id": "NP_001364934.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1477,
"cds_start": -4,
"cds_end": null,
"cds_length": 4434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7895,
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "ENST00000541377.5",
"protein_id": "ENSP00000441625.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1477,
"cds_start": -4,
"cds_end": null,
"cds_length": 4434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7909,
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "NM_001142274.2",
"protein_id": "NP_001135746.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1471,
"cds_start": -4,
"cds_end": null,
"cds_length": 4416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7877,
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "ENST00000409078.8",
"protein_id": "ENSP00000386442.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1471,
"cds_start": -4,
"cds_end": null,
"cds_length": 4416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7877,
"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": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "NM_001378004.1",
"protein_id": "NP_001364933.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1470,
"cds_start": -4,
"cds_end": null,
"cds_length": 4413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7874,
"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": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "ENST00000700754.1",
"protein_id": "ENSP00000515166.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1463,
"cds_start": -4,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7735,
"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": 37,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "ENST00000700755.1",
"protein_id": "ENSP00000515167.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1454,
"cds_start": -4,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLASP1-AS1",
"gene_hgnc_id": 55328,
"hgvs_c": "n.354+120G>C",
"hgvs_p": null,
"transcript": "ENST00000577914.2",
"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": 821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLASP1-AS1",
"gene_hgnc_id": 55328,
"hgvs_c": "n.101+120G>C",
"hgvs_p": null,
"transcript": "ENST00000797379.1",
"protein_id": null,
"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": 532,
"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": 45,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_047443777.1",
"protein_id": "XP_047299733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1588,
"cds_start": -4,
"cds_end": null,
"cds_length": 4767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8480,
"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": 42,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_017003665.2",
"protein_id": "XP_016859154.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1531,
"cds_start": -4,
"cds_end": null,
"cds_length": 4596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8057,
"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": 41,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_047443778.1",
"protein_id": "XP_047299734.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1527,
"cds_start": -4,
"cds_end": null,
"cds_length": 4584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8045,
"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": 41,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_047443779.1",
"protein_id": "XP_047299735.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1523,
"cds_start": -4,
"cds_end": null,
"cds_length": 4572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8033,
"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": 41,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_047443797.1",
"protein_id": "XP_047299753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1522,
"cds_start": -4,
"cds_end": null,
"cds_length": 4569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8030,
"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": 41,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_047443780.1",
"protein_id": "XP_047299736.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1521,
"cds_start": -4,
"cds_end": null,
"cds_length": 4566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8027,
"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": 40,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_047443781.1",
"protein_id": "XP_047299737.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1519,
"cds_start": -4,
"cds_end": null,
"cds_length": 4560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8021,
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_047443782.1",
"protein_id": "XP_047299738.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1511,
"cds_start": -4,
"cds_end": null,
"cds_length": 4536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7997,
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_047443783.1",
"protein_id": "XP_047299739.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1504,
"cds_start": -4,
"cds_end": null,
"cds_length": 4515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7976,
"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": 40,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_011510848.2",
"protein_id": "XP_011509150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1494,
"cds_start": -4,
"cds_end": null,
"cds_length": 4485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7946,
"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": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_047443795.1",
"protein_id": "XP_047299751.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1490,
"cds_start": -4,
"cds_end": null,
"cds_length": 4473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7934,
"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": 37,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_047443796.1",
"protein_id": "XP_047299752.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1489,
"cds_start": -4,
"cds_end": null,
"cds_length": 4470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7931,
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_011510849.2",
"protein_id": "XP_011509151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1486,
"cds_start": -4,
"cds_end": null,
"cds_length": 4461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7922,
"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": 40,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_047443784.1",
"protein_id": "XP_047299740.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1479,
"cds_start": -4,
"cds_end": null,
"cds_length": 4440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7901,
"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": 40,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_017003673.2",
"protein_id": "XP_016859162.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1478,
"cds_start": -4,
"cds_end": null,
"cds_length": 4437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7898,
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_047443785.1",
"protein_id": "XP_047299741.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1477,
"cds_start": -4,
"cds_end": null,
"cds_length": 4434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7895,
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_047443786.1",
"protein_id": "XP_047299742.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1471,
"cds_start": -4,
"cds_end": null,
"cds_length": 4416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7877,
"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": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_006712381.2",
"protein_id": "XP_006712444.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1470,
"cds_start": -4,
"cds_end": null,
"cds_length": 4413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7874,
"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": 37,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_047443787.1",
"protein_id": "XP_047299743.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1469,
"cds_start": -4,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7871,
"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": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_047443788.1",
"protein_id": "XP_047299744.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1469,
"cds_start": -4,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7871,
"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": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_006712382.2",
"protein_id": "XP_006712445.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": -4,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7850,
"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": 37,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_047443789.1",
"protein_id": "XP_047299745.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": -4,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7850,
"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": 37,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_047443791.1",
"protein_id": "XP_047299747.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1461,
"cds_start": -4,
"cds_end": null,
"cds_length": 4386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7847,
"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": 37,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_006712383.2",
"protein_id": "XP_006712446.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1454,
"cds_start": -4,
"cds_end": null,
"cds_length": 4365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7826,
"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": 36,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_047443792.1",
"protein_id": "XP_047299748.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1453,
"cds_start": -4,
"cds_end": null,
"cds_length": 4362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7823,
"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": 36,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_047443793.1",
"protein_id": "XP_047299749.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1453,
"cds_start": -4,
"cds_end": null,
"cds_length": 4362,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8457,
"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": 35,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_047443794.1",
"protein_id": "XP_047299750.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1188,
"cds_start": -4,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8497,
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "c.196-570C>G",
"hgvs_p": null,
"transcript": "XM_017003690.2",
"protein_id": "XP_016859179.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": -4,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CLASP1-AS1",
"gene_hgnc_id": 55328,
"hgvs_c": "n.608+120G>C",
"hgvs_p": null,
"transcript": "XR_001739683.2",
"protein_id": null,
"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": 1897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"hgvs_c": "n.-150C>G",
"hgvs_p": null,
"transcript": "ENST00000485112.1",
"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": 869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CLASP1",
"gene_hgnc_id": 17088,
"dbsnp": "rs750325275",
"frequency_reference_population": 0.0000065745353,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657454,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.23999999463558197,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.164,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000696935.1",
"gene_symbol": "CLASP1",
"hgnc_id": 17088,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.196-570C>G",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_023343.3",
"gene_symbol": "RNU4ATAC",
"hgnc_id": 34016,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.16G>C",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000577914.2",
"gene_symbol": "CLASP1-AS1",
"hgnc_id": 55328,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.354+120G>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}