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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-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=33394043&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 33394043,
"ref": "T",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001365728.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.432A>T",
"hgvs_p": "p.Thr144Thr",
"transcript": "NM_016408.4",
"protein_id": "NP_057492.2",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 587,
"cds_start": 432,
"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": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.432A>T",
"hgvs_p": "p.Thr144Thr",
"transcript": "ENST00000346416.7",
"protein_id": "ENSP00000217372.2",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 587,
"cds_start": 432,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.432A>T",
"hgvs_p": "p.Thr144Thr",
"transcript": "ENST00000339269.5",
"protein_id": "ENSP00000341840.5",
"transcript_support_level": 1,
"aa_start": 144,
"aa_end": null,
"aa_length": 510,
"cds_start": 432,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.-118A>T",
"hgvs_p": null,
"transcript": "XM_024451893.2",
"protein_id": "XP_024307661.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 404,
"cds_start": null,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024451893.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.432A>T",
"hgvs_p": "p.Thr144Thr",
"transcript": "ENST00000874266.1",
"protein_id": "ENSP00000544325.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 618,
"cds_start": 432,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.432A>T",
"hgvs_p": "p.Thr144Thr",
"transcript": "ENST00000874267.1",
"protein_id": "ENSP00000544326.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 604,
"cds_start": 432,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.432A>T",
"hgvs_p": "p.Thr144Thr",
"transcript": "NM_001365728.1",
"protein_id": "NP_001352657.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 601,
"cds_start": 432,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.432A>T",
"hgvs_p": "p.Thr144Thr",
"transcript": "ENST00000357886.8",
"protein_id": "ENSP00000350558.4",
"transcript_support_level": 5,
"aa_start": 144,
"aa_end": null,
"aa_length": 601,
"cds_start": 432,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.432A>T",
"hgvs_p": "p.Thr144Thr",
"transcript": "ENST00000874261.1",
"protein_id": "ENSP00000544320.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 596,
"cds_start": 432,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.432A>T",
"hgvs_p": "p.Thr144Thr",
"transcript": "ENST00000912373.1",
"protein_id": "ENSP00000582432.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 595,
"cds_start": 432,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.435A>T",
"hgvs_p": "p.Thr145Thr",
"transcript": "NM_016082.4",
"protein_id": "NP_057166.4",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 588,
"cds_start": 435,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.432A>T",
"hgvs_p": "p.Thr144Thr",
"transcript": "ENST00000874262.1",
"protein_id": "ENSP00000544321.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 587,
"cds_start": 432,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.432A>T",
"hgvs_p": "p.Thr144Thr",
"transcript": "ENST00000874268.1",
"protein_id": "ENSP00000544327.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 587,
"cds_start": 432,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.432A>T",
"hgvs_p": "p.Thr144Thr",
"transcript": "ENST00000912367.1",
"protein_id": "ENSP00000582426.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 587,
"cds_start": 432,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.432A>T",
"hgvs_p": "p.Thr144Thr",
"transcript": "ENST00000912374.1",
"protein_id": "ENSP00000582433.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 587,
"cds_start": 432,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.432A>T",
"hgvs_p": "p.Thr144Thr",
"transcript": "ENST00000945688.1",
"protein_id": "ENSP00000615747.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 587,
"cds_start": 432,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.432A>T",
"hgvs_p": "p.Thr144Thr",
"transcript": "ENST00000945690.1",
"protein_id": "ENSP00000615749.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 587,
"cds_start": 432,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.432A>T",
"hgvs_p": "p.Thr144Thr",
"transcript": "NM_001278167.2",
"protein_id": "NP_001265096.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 586,
"cds_start": 432,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.432A>T",
"hgvs_p": "p.Thr144Thr",
"transcript": "ENST00000874263.1",
"protein_id": "ENSP00000544322.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 586,
"cds_start": 432,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.351A>T",
"hgvs_p": "p.Thr117Thr",
"transcript": "NM_001278169.1",
"protein_id": "NP_001265098.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 560,
"cds_start": 351,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.324A>T",
"hgvs_p": "p.Thr108Thr",
"transcript": "ENST00000945691.1",
"protein_id": "ENSP00000615750.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 551,
"cds_start": 324,
"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": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP1",
"gene_hgnc_id": 15880,
"hgvs_c": "c.432A>T",
"hgvs_p": "p.Thr144Thr",
"transcript": "ENST00000874260.1",
"protein_id": "ENSP00000544319.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 540,
"cds_start": 432,
"cds_end": null,
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP7"
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"verdict": "Likely_benign",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}