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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: 20-33360391-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=33360391&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 33360391,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001365728.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1643T>C",
"hgvs_p": "p.Leu548Pro",
"transcript": "NM_016408.4",
"protein_id": "NP_057492.2",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 587,
"cds_start": 1643,
"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": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1643T>C",
"hgvs_p": "p.Leu548Pro",
"transcript": "ENST00000346416.7",
"protein_id": "ENSP00000217372.2",
"transcript_support_level": 1,
"aa_start": 548,
"aa_end": null,
"aa_length": 587,
"cds_start": 1643,
"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": "L",
"aa_alt": "P",
"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.1412T>C",
"hgvs_p": "p.Leu471Pro",
"transcript": "ENST00000339269.5",
"protein_id": "ENSP00000341840.5",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 510,
"cds_start": 1412,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1736T>C",
"hgvs_p": "p.Leu579Pro",
"transcript": "ENST00000874266.1",
"protein_id": "ENSP00000544325.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 618,
"cds_start": 1736,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1694T>C",
"hgvs_p": "p.Leu565Pro",
"transcript": "ENST00000874267.1",
"protein_id": "ENSP00000544326.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 604,
"cds_start": 1694,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1685T>C",
"hgvs_p": "p.Leu562Pro",
"transcript": "NM_001365728.1",
"protein_id": "NP_001352657.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 601,
"cds_start": 1685,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1685T>C",
"hgvs_p": "p.Leu562Pro",
"transcript": "ENST00000357886.8",
"protein_id": "ENSP00000350558.4",
"transcript_support_level": 5,
"aa_start": 562,
"aa_end": null,
"aa_length": 601,
"cds_start": 1685,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1670T>C",
"hgvs_p": "p.Leu557Pro",
"transcript": "ENST00000874261.1",
"protein_id": "ENSP00000544320.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 596,
"cds_start": 1670,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1667T>C",
"hgvs_p": "p.Leu556Pro",
"transcript": "ENST00000912373.1",
"protein_id": "ENSP00000582432.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 595,
"cds_start": 1667,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1646T>C",
"hgvs_p": "p.Leu549Pro",
"transcript": "NM_016082.4",
"protein_id": "NP_057166.4",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 588,
"cds_start": 1646,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1643T>C",
"hgvs_p": "p.Leu548Pro",
"transcript": "ENST00000874262.1",
"protein_id": "ENSP00000544321.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 587,
"cds_start": 1643,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1643T>C",
"hgvs_p": "p.Leu548Pro",
"transcript": "ENST00000874268.1",
"protein_id": "ENSP00000544327.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 587,
"cds_start": 1643,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1643T>C",
"hgvs_p": "p.Leu548Pro",
"transcript": "ENST00000912367.1",
"protein_id": "ENSP00000582426.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 587,
"cds_start": 1643,
"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": "L",
"aa_alt": "P",
"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.1643T>C",
"hgvs_p": "p.Leu548Pro",
"transcript": "ENST00000912374.1",
"protein_id": "ENSP00000582433.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 587,
"cds_start": 1643,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1643T>C",
"hgvs_p": "p.Leu548Pro",
"transcript": "ENST00000945688.1",
"protein_id": "ENSP00000615747.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 587,
"cds_start": 1643,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1643T>C",
"hgvs_p": "p.Leu548Pro",
"transcript": "ENST00000945690.1",
"protein_id": "ENSP00000615749.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 587,
"cds_start": 1643,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1640T>C",
"hgvs_p": "p.Leu547Pro",
"transcript": "NM_001278167.2",
"protein_id": "NP_001265096.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 586,
"cds_start": 1640,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1640T>C",
"hgvs_p": "p.Leu547Pro",
"transcript": "ENST00000874263.1",
"protein_id": "ENSP00000544322.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 586,
"cds_start": 1640,
"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": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.1562T>C",
"hgvs_p": "p.Leu521Pro",
"transcript": "NM_001278169.1",
"protein_id": "NP_001265098.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 560,
"cds_start": 1562,
"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": "L",
"aa_alt": "P",
"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.1535T>C",
"hgvs_p": "p.Leu512Pro",
"transcript": "ENST00000945691.1",
"protein_id": "ENSP00000615750.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 551,
"cds_start": 1535,
"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": "L",
"aa_alt": "P",
"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.1439T>C",
"hgvs_p": "p.Leu480Pro",
"transcript": "ENST00000912368.1",
"protein_id": "ENSP00000582427.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 519,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912368.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"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.1412T>C",
"hgvs_p": "p.Leu471Pro",
"transcript": "NM_001278168.2",
"protein_id": "NP_001265097.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 510,
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"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "n.515T>C",
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "n.818T>C",
"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.535-1304T>C",
"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": "rs970247691",
"frequency_reference_population": 0.0000074352297,
"hom_count_reference_population": 0,
"allele_count_reference_population": 12,
"gnomad_exomes_af": 0.00000752512,
"gnomad_genomes_af": 0.00000657168,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14071473479270935,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.131,
"revel_prediction": "Benign",
"alphamissense_score": 0.0874,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.414,
"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": 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": "NM_001365728.1",
"gene_symbol": "CDK5RAP1",
"hgnc_id": 15880,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1685T>C",
"hgvs_p": "p.Leu562Pro"
}
],
"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
}