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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: 10-28614589-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=28614589&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 28614589,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_016628.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Gln487Arg",
"transcript": "NM_016628.5",
"protein_id": "NP_057712.2",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 647,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354911.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016628.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Gln487Arg",
"transcript": "ENST00000354911.9",
"protein_id": "ENSP00000346986.4",
"transcript_support_level": 1,
"aa_start": 487,
"aa_end": null,
"aa_length": 647,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016628.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354911.9"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1325A>G",
"hgvs_p": "p.Gln442Arg",
"transcript": "ENST00000375664.8",
"protein_id": "ENSP00000364816.3",
"transcript_support_level": 1,
"aa_start": 442,
"aa_end": null,
"aa_length": 602,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375664.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "n.2201A>G",
"hgvs_p": null,
"transcript": "ENST00000345541.6",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000345541.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "n.*886A>G",
"hgvs_p": null,
"transcript": "ENST00000628285.3",
"protein_id": "ENSP00000486994.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000628285.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "n.*886A>G",
"hgvs_p": null,
"transcript": "ENST00000628285.3",
"protein_id": "ENSP00000486994.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000628285.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1460A>G",
"hgvs_p": "p.Gln487Arg",
"transcript": "ENST00000910892.1",
"protein_id": "ENSP00000580952.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 646,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910892.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1457A>G",
"hgvs_p": "p.Gln486Arg",
"transcript": "ENST00000923556.1",
"protein_id": "ENSP00000593615.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 646,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923556.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1451A>G",
"hgvs_p": "p.Gln484Arg",
"transcript": "ENST00000910897.1",
"protein_id": "ENSP00000580956.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 644,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910897.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1448A>G",
"hgvs_p": "p.Gln483Arg",
"transcript": "ENST00000700325.1",
"protein_id": "ENSP00000514952.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 643,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700325.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1448A>G",
"hgvs_p": "p.Gln483Arg",
"transcript": "ENST00000706612.1",
"protein_id": "ENSP00000516469.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 643,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706612.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1451A>G",
"hgvs_p": "p.Gln484Arg",
"transcript": "ENST00000910899.1",
"protein_id": "ENSP00000580959.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 643,
"cds_start": 1451,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910899.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1448A>G",
"hgvs_p": "p.Gln483Arg",
"transcript": "ENST00000910902.1",
"protein_id": "ENSP00000580960.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 643,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910902.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1448A>G",
"hgvs_p": "p.Gln483Arg",
"transcript": "ENST00000923555.1",
"protein_id": "ENSP00000593614.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 642,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923555.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1331A>G",
"hgvs_p": "p.Gln444Arg",
"transcript": "ENST00000680735.1",
"protein_id": "ENSP00000505513.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 604,
"cds_start": 1331,
"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": "ENST00000680735.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1325A>G",
"hgvs_p": "p.Gln442Arg",
"transcript": "NM_100264.3",
"protein_id": "NP_567822.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 602,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_100264.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1325A>G",
"hgvs_p": "p.Gln442Arg",
"transcript": "ENST00000442148.6",
"protein_id": "ENSP00000400848.2",
"transcript_support_level": 5,
"aa_start": 442,
"aa_end": null,
"aa_length": 602,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000442148.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1325A>G",
"hgvs_p": "p.Gln442Arg",
"transcript": "ENST00000679398.1",
"protein_id": "ENSP00000506624.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 602,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679398.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1325A>G",
"hgvs_p": "p.Gln442Arg",
"transcript": "ENST00000679428.1",
"protein_id": "ENSP00000506445.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 602,
"cds_start": 1325,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679428.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1151A>G",
"hgvs_p": "p.Gln384Arg",
"transcript": "NM_100486.4",
"protein_id": "NP_567823.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 544,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_100486.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1151A>G",
"hgvs_p": "p.Gln384Arg",
"transcript": "ENST00000347934.8",
"protein_id": "ENSP00000311106.4",
"transcript_support_level": 5,
"aa_start": 384,
"aa_end": null,
"aa_length": 544,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347934.8"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "WAC",
"gene_hgnc_id": 17327,
"hgvs_c": "c.1151A>G",
"hgvs_p": "p.Gln384Arg",
"transcript": "ENST00000910895.1",
"protein_id": "ENSP00000580953.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 543,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910895.1"
},
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}