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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: 20-33366912-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=33366912&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 33366912,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001365728.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1489A>G",
"hgvs_p": "p.Thr497Ala",
"transcript": "NM_016408.4",
"protein_id": "NP_057492.2",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 587,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000346416.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016408.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1489A>G",
"hgvs_p": "p.Thr497Ala",
"transcript": "ENST00000346416.7",
"protein_id": "ENSP00000217372.2",
"transcript_support_level": 1,
"aa_start": 497,
"aa_end": null,
"aa_length": 587,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016408.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346416.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1258A>G",
"hgvs_p": "p.Thr420Ala",
"transcript": "ENST00000339269.5",
"protein_id": "ENSP00000341840.5",
"transcript_support_level": 1,
"aa_start": 420,
"aa_end": null,
"aa_length": 510,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339269.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1582A>G",
"hgvs_p": "p.Thr528Ala",
"transcript": "ENST00000874266.1",
"protein_id": "ENSP00000544325.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 618,
"cds_start": 1582,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874266.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1489A>G",
"hgvs_p": "p.Thr497Ala",
"transcript": "ENST00000874267.1",
"protein_id": "ENSP00000544326.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 604,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874267.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1531A>G",
"hgvs_p": "p.Thr511Ala",
"transcript": "NM_001365728.1",
"protein_id": "NP_001352657.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 601,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365728.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1531A>G",
"hgvs_p": "p.Thr511Ala",
"transcript": "ENST00000357886.8",
"protein_id": "ENSP00000350558.4",
"transcript_support_level": 5,
"aa_start": 511,
"aa_end": null,
"aa_length": 601,
"cds_start": 1531,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357886.8"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1516A>G",
"hgvs_p": "p.Thr506Ala",
"transcript": "ENST00000874261.1",
"protein_id": "ENSP00000544320.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 596,
"cds_start": 1516,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874261.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1513A>G",
"hgvs_p": "p.Thr505Ala",
"transcript": "ENST00000912373.1",
"protein_id": "ENSP00000582432.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 595,
"cds_start": 1513,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912373.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1492A>G",
"hgvs_p": "p.Thr498Ala",
"transcript": "NM_016082.4",
"protein_id": "NP_057166.4",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 588,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016082.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1489A>G",
"hgvs_p": "p.Thr497Ala",
"transcript": "ENST00000874262.1",
"protein_id": "ENSP00000544321.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 587,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874262.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1489A>G",
"hgvs_p": "p.Thr497Ala",
"transcript": "ENST00000874268.1",
"protein_id": "ENSP00000544327.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 587,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874268.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1489A>G",
"hgvs_p": "p.Thr497Ala",
"transcript": "ENST00000912367.1",
"protein_id": "ENSP00000582426.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 587,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912367.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1489A>G",
"hgvs_p": "p.Thr497Ala",
"transcript": "ENST00000912374.1",
"protein_id": "ENSP00000582433.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 587,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912374.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1489A>G",
"hgvs_p": "p.Thr497Ala",
"transcript": "ENST00000945688.1",
"protein_id": "ENSP00000615747.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 587,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945688.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1489A>G",
"hgvs_p": "p.Thr497Ala",
"transcript": "ENST00000945690.1",
"protein_id": "ENSP00000615749.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 587,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945690.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1486A>G",
"hgvs_p": "p.Thr496Ala",
"transcript": "NM_001278167.2",
"protein_id": "NP_001265096.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 586,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278167.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1486A>G",
"hgvs_p": "p.Thr496Ala",
"transcript": "ENST00000874263.1",
"protein_id": "ENSP00000544322.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 586,
"cds_start": 1486,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874263.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1408A>G",
"hgvs_p": "p.Thr470Ala",
"transcript": "NM_001278169.1",
"protein_id": "NP_001265098.1",
"transcript_support_level": null,
"aa_start": 470,
"aa_end": null,
"aa_length": 560,
"cds_start": 1408,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278169.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1381A>G",
"hgvs_p": "p.Thr461Ala",
"transcript": "ENST00000945691.1",
"protein_id": "ENSP00000615750.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 551,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945691.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1489A>G",
"hgvs_p": "p.Thr497Ala",
"transcript": "ENST00000874260.1",
"protein_id": "ENSP00000544319.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 540,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874260.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1486A>G",
"hgvs_p": "p.Thr496Ala",
"transcript": "ENST00000945687.1",
"protein_id": "ENSP00000615746.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 539,
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"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000461710.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "n.466A>G",
"hgvs_p": null,
"transcript": "ENST00000481964.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000481964.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "n.361A>G",
"hgvs_p": null,
"transcript": "ENST00000482967.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000482967.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "n.664A>G",
"hgvs_p": null,
"transcript": "ENST00000496381.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000496381.5"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "n.535-7825A>G",
"hgvs_p": null,
"transcript": "ENST00000498525.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000498525.5"
}
],
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"dbsnp": "rs370710088",
"frequency_reference_population": 0.000029119694,
"hom_count_reference_population": 0,
"allele_count_reference_population": 47,
"gnomad_exomes_af": 0.0000307824,
"gnomad_genomes_af": 0.0000131446,
"gnomad_exomes_ac": 45,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03095981478691101,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.026,
"revel_prediction": "Benign",
"alphamissense_score": 0.055,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.459,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001365728.1",
"gene_symbol": "CDK5RAP1",
"hgnc_id": 15880,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1531A>G",
"hgvs_p": "p.Thr511Ala"
}
],
"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
}