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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: 9-87727672-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=87727672&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CTSL",
"hgnc_id": 2537,
"hgvs_c": "c.69C>G",
"hgvs_p": "p.His23Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001912.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000304058",
"hgnc_id": null,
"hgvs_c": "n.46-4652G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000799159.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0965,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03597816824913025,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1654,
"cdna_start": 359,
"cds_end": null,
"cds_length": 1002,
"cds_start": 69,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001912.5",
"gene_hgnc_id": 2537,
"gene_symbol": "CTSL",
"hgvs_c": "c.69C>G",
"hgvs_p": "p.His23Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000343150.10",
"protein_coding": true,
"protein_id": "NP_001903.1",
"strand": true,
"transcript": "NM_001912.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1654,
"cdna_start": 359,
"cds_end": null,
"cds_length": 1002,
"cds_start": 69,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000343150.10",
"gene_hgnc_id": 2537,
"gene_symbol": "CTSL",
"hgvs_c": "c.69C>G",
"hgvs_p": "p.His23Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001912.5",
"protein_coding": true,
"protein_id": "ENSP00000345344.5",
"strand": true,
"transcript": "ENST00000343150.10",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1536,
"cdna_start": 319,
"cds_end": null,
"cds_length": 1002,
"cds_start": 69,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000340342.11",
"gene_hgnc_id": 2537,
"gene_symbol": "CTSL",
"hgvs_c": "c.69C>G",
"hgvs_p": "p.His23Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365061.5",
"strand": true,
"transcript": "ENST00000340342.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1345,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000495822.2",
"gene_hgnc_id": 2537,
"gene_symbol": "CTSL",
"hgvs_c": "n.178C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000495822.2",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 341,
"aa_ref": "H",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1963,
"cdna_start": 308,
"cds_end": null,
"cds_length": 1026,
"cds_start": 69,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000678596.1",
"gene_hgnc_id": 2537,
"gene_symbol": "CTSL",
"hgvs_c": "c.69C>G",
"hgvs_p": "p.His23Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503146.1",
"strand": true,
"transcript": "ENST00000678596.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 341,
"aa_ref": "H",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1897,
"cdna_start": 214,
"cds_end": null,
"cds_length": 1026,
"cds_start": 69,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000678649.1",
"gene_hgnc_id": 2537,
"gene_symbol": "CTSL",
"hgvs_c": "c.69C>G",
"hgvs_p": "p.His23Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504772.1",
"strand": true,
"transcript": "ENST00000678649.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1564,
"cdna_start": 269,
"cds_end": null,
"cds_length": 1002,
"cds_start": 69,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001257971.2",
"gene_hgnc_id": 2537,
"gene_symbol": "CTSL",
"hgvs_c": "c.69C>G",
"hgvs_p": "p.His23Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244900.1",
"strand": true,
"transcript": "NM_001257971.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1505,
"cdna_start": 210,
"cds_end": null,
"cds_length": 1002,
"cds_start": 69,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001257972.2",
"gene_hgnc_id": 2537,
"gene_symbol": "CTSL",
"hgvs_c": "c.69C>G",
"hgvs_p": "p.His23Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244901.1",
"strand": true,
"transcript": "NM_001257972.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1762,
"cdna_start": 467,
"cds_end": null,
"cds_length": 1002,
"cds_start": 69,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001382757.1",
"gene_hgnc_id": 2537,
"gene_symbol": "CTSL",
"hgvs_c": "c.69C>G",
"hgvs_p": "p.His23Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369686.1",
"strand": true,
"transcript": "NM_001382757.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1509,
"cdna_start": 214,
"cds_end": null,
"cds_length": 1002,
"cds_start": 69,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_145918.3",
"gene_hgnc_id": 2537,
"gene_symbol": "CTSL",
"hgvs_c": "c.69C>G",
"hgvs_p": "p.His23Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_666023.1",
"strand": true,
"transcript": "NM_145918.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2392,
"cdna_start": 1212,
"cds_end": null,
"cds_length": 1002,
"cds_start": 69,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000676480.1",
"gene_hgnc_id": 2537,
"gene_symbol": "CTSL",
"hgvs_c": "c.69C>G",
"hgvs_p": "p.His23Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504279.1",
"strand": true,
"transcript": "ENST00000676480.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1813,
"cdna_start": 594,
"cds_end": null,
"cds_length": 1002,
"cds_start": 69,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000676531.1",
"gene_hgnc_id": 2537,
"gene_symbol": "CTSL",
"hgvs_c": "c.69C>G",
"hgvs_p": "p.His23Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503439.1",
"strand": true,
"transcript": "ENST00000676531.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 333,
"aa_ref": "H",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1593,
"cdna_start": 374,
"cds_end": null,
"cds_length": 1002,
"cds_start": 69,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000676881.1",
"gene_hgnc_id": 2537,
"gene_symbol": "CTSL",
"hgvs_c": "c.69C>G",
"hgvs_p": "p.His23Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502901.1",
"strand": true,
"transcript": "ENST00000676881.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1420,
"cdna_start": 205,
"cds_end": null,
"cds_length": 1002,
"cds_start": 69,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000676946.1",
"gene_hgnc_id": 2537,
"gene_symbol": "CTSL",
"hgvs_c": "c.69C>G",
"hgvs_p": "p.His23Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503470.1",
"strand": true,
"transcript": "ENST00000676946.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1613,
"cdna_start": 394,
"cds_end": null,
"cds_length": 1002,
"cds_start": 69,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000677262.1",
"gene_hgnc_id": 2537,
"gene_symbol": "CTSL",
"hgvs_c": "c.69C>G",
"hgvs_p": "p.His23Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503851.1",
"strand": true,
"transcript": "ENST00000677262.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2397,
"cdna_start": 1223,
"cds_end": null,
"cds_length": 1002,
"cds_start": 69,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000677761.1",
"gene_hgnc_id": 2537,
"gene_symbol": "CTSL",
"hgvs_c": "c.69C>G",
"hgvs_p": "p.His23Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503938.1",
"strand": true,
"transcript": "ENST00000677761.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 333,
"aa_ref": "H",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1719,
"cdna_start": 500,
"cds_end": null,
"cds_length": 1002,
"cds_start": 69,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000677821.1",
"gene_hgnc_id": 2537,
"gene_symbol": "CTSL",
"hgvs_c": "c.69C>G",
"hgvs_p": "p.His23Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503298.1",
"strand": true,
"transcript": "ENST00000677821.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1394,
"cdna_start": 273,
"cds_end": null,
"cds_length": 1002,
"cds_start": 69,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000678442.1",
"gene_hgnc_id": 2537,
"gene_symbol": "CTSL",
"hgvs_c": "c.69C>G",
"hgvs_p": "p.His23Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503897.1",
"strand": true,
"transcript": "ENST00000678442.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2129,
"cdna_start": 837,
"cds_end": null,
"cds_length": 1002,
"cds_start": 69,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000679149.1",
"gene_hgnc_id": 2537,
"gene_symbol": "CTSL",
"hgvs_c": "c.69C>G",
"hgvs_p": "p.His23Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504313.1",
"strand": true,
"transcript": "ENST00000679149.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1981,
"cdna_start": 689,
"cds_end": null,
"cds_length": 1002,
"cds_start": 69,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000679157.1",
"gene_hgnc_id": 2537,
"gene_symbol": "CTSL",
"hgvs_c": "c.69C>G",
"hgvs_p": "p.His23Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502968.1",
"strand": true,
"transcript": "ENST00000679157.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 333,
"aa_ref": "H",
"aa_start": 23,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1559,
"cdna_start": 273,
"cds_end": null,
"cds_length": 1002,
"cds_start": 69,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
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