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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: 20-33394043-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=33394043&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "CDK5RAP1",
"hgnc_id": 15880,
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Thr144Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_001365728.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_score": -13,
"allele_count_reference_population": 1056348,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.87,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 587,
"aa_ref": "T",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2080,
"cdna_start": 544,
"cds_end": null,
"cds_length": 1764,
"cds_start": 432,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_016408.4",
"gene_hgnc_id": 15880,
"gene_symbol": "CDK5RAP1",
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Thr144Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000346416.7",
"protein_coding": true,
"protein_id": "NP_057492.2",
"strand": false,
"transcript": "NM_016408.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 587,
"aa_ref": "T",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2080,
"cdna_start": 544,
"cds_end": null,
"cds_length": 1764,
"cds_start": 432,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000346416.7",
"gene_hgnc_id": 15880,
"gene_symbol": "CDK5RAP1",
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Thr144Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016408.4",
"protein_coding": true,
"protein_id": "ENSP00000217372.2",
"strand": false,
"transcript": "ENST00000346416.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 510,
"aa_ref": "T",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1891,
"cdna_start": 586,
"cds_end": null,
"cds_length": 1533,
"cds_start": 432,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000339269.5",
"gene_hgnc_id": 15880,
"gene_symbol": "CDK5RAP1",
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Thr144Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341840.5",
"strand": false,
"transcript": "ENST00000339269.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 618,
"aa_ref": "T",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2171,
"cdna_start": 544,
"cds_end": null,
"cds_length": 1857,
"cds_start": 432,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874266.1",
"gene_hgnc_id": 15880,
"gene_symbol": "CDK5RAP1",
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Thr144Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544325.1",
"strand": false,
"transcript": "ENST00000874266.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 604,
"aa_ref": "T",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2129,
"cdna_start": 542,
"cds_end": null,
"cds_length": 1815,
"cds_start": 432,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874267.1",
"gene_hgnc_id": 15880,
"gene_symbol": "CDK5RAP1",
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Thr144Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544326.1",
"strand": false,
"transcript": "ENST00000874267.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 601,
"aa_ref": "T",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2172,
"cdna_start": 594,
"cds_end": null,
"cds_length": 1806,
"cds_start": 432,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001365728.1",
"gene_hgnc_id": 15880,
"gene_symbol": "CDK5RAP1",
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Thr144Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352657.1",
"strand": false,
"transcript": "NM_001365728.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 601,
"aa_ref": "T",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2164,
"cdna_start": 586,
"cds_end": null,
"cds_length": 1806,
"cds_start": 432,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000357886.8",
"gene_hgnc_id": 15880,
"gene_symbol": "CDK5RAP1",
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Thr144Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350558.4",
"strand": false,
"transcript": "ENST00000357886.8",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 596,
"aa_ref": "T",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2126,
"cdna_start": 563,
"cds_end": null,
"cds_length": 1791,
"cds_start": 432,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874261.1",
"gene_hgnc_id": 15880,
"gene_symbol": "CDK5RAP1",
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Thr144Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544320.1",
"strand": false,
"transcript": "ENST00000874261.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 595,
"aa_ref": "T",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": 507,
"cds_end": null,
"cds_length": 1788,
"cds_start": 432,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000912373.1",
"gene_hgnc_id": 15880,
"gene_symbol": "CDK5RAP1",
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Thr144Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582432.1",
"strand": false,
"transcript": "ENST00000912373.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 588,
"aa_ref": "T",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1982,
"cdna_start": 446,
"cds_end": null,
"cds_length": 1767,
"cds_start": 435,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_016082.4",
"gene_hgnc_id": 15880,
"gene_symbol": "CDK5RAP1",
"hgvs_c": "c.435A>G",
"hgvs_p": "p.Thr145Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057166.4",
"strand": false,
"transcript": "NM_016082.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 587,
"aa_ref": "T",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2209,
"cdna_start": 673,
"cds_end": null,
"cds_length": 1764,
"cds_start": 432,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000874262.1",
"gene_hgnc_id": 15880,
"gene_symbol": "CDK5RAP1",
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Thr144Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544321.1",
"strand": false,
"transcript": "ENST00000874262.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 587,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 596,
"cds_end": null,
"cds_length": 1764,
"cds_start": 432,
"consequences": [
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],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874268.1",
"gene_hgnc_id": 15880,
"gene_symbol": "CDK5RAP1",
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Thr144Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544327.1",
"strand": false,
"transcript": "ENST00000874268.1",
"transcript_support_level": null
},
{
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"aa_length": 587,
"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_length": 2348,
"cdna_start": 808,
"cds_end": null,
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"cds_start": 432,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 5,
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"feature": "ENST00000912367.1",
"gene_hgnc_id": 15880,
"gene_symbol": "CDK5RAP1",
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Thr144Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582426.1",
"strand": false,
"transcript": "ENST00000912367.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 587,
"aa_ref": "T",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3863,
"cdna_start": 2331,
"cds_end": null,
"cds_length": 1764,
"cds_start": 432,
"consequences": [
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],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000912374.1",
"gene_hgnc_id": 15880,
"gene_symbol": "CDK5RAP1",
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Thr144Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582433.1",
"strand": false,
"transcript": "ENST00000912374.1",
"transcript_support_level": null
},
{
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"aa_length": 587,
"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2205,
"cdna_start": 670,
"cds_end": null,
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"cds_start": 432,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000945688.1",
"gene_hgnc_id": 15880,
"gene_symbol": "CDK5RAP1",
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Thr144Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615747.1",
"strand": false,
"transcript": "ENST00000945688.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 587,
"aa_ref": "T",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2176,
"cdna_start": 642,
"cds_end": null,
"cds_length": 1764,
"cds_start": 432,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000945690.1",
"gene_hgnc_id": 15880,
"gene_symbol": "CDK5RAP1",
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Thr144Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615749.1",
"strand": false,
"transcript": "ENST00000945690.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 586,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2077,
"cdna_start": 544,
"cds_end": null,
"cds_length": 1761,
"cds_start": 432,
"consequences": [
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],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001278167.2",
"gene_hgnc_id": 15880,
"gene_symbol": "CDK5RAP1",
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Thr144Thr",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001265096.1",
"strand": false,
"transcript": "NM_001278167.2",
"transcript_support_level": null
},
{
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"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_start": 555,
"cds_end": null,
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"cds_start": 432,
"consequences": [
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],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874263.1",
"gene_hgnc_id": 15880,
"gene_symbol": "CDK5RAP1",
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Thr144Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544322.1",
"strand": false,
"transcript": "ENST00000874263.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 560,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1898,
"cdna_start": 362,
"cds_end": null,
"cds_length": 1683,
"cds_start": 351,
"consequences": [
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],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001278169.1",
"gene_hgnc_id": 15880,
"gene_symbol": "CDK5RAP1",
"hgvs_c": "c.351A>G",
"hgvs_p": "p.Thr117Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265098.1",
"strand": false,
"transcript": "NM_001278169.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 551,
"aa_ref": "T",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1969,
"cdna_start": 436,
"cds_end": null,
"cds_length": 1656,
"cds_start": 324,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000945691.1",
"gene_hgnc_id": 15880,
"gene_symbol": "CDK5RAP1",
"hgvs_c": "c.324A>G",
"hgvs_p": "p.Thr108Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615750.1",
"strand": false,
"transcript": "ENST00000945691.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 540,
"aa_ref": "T",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2368,
"cdna_start": 571,
"cds_end": null,
"cds_length": 1623,
"cds_start": 432,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000874260.1",
"gene_hgnc_id": 15880,
"gene_symbol": "CDK5RAP1",
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