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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: 22-21684777-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=21684777&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PPIL2",
"hgnc_id": 9261,
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193Gln",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_148176.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.6872,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7935653924942017,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 520,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4068,
"cdna_start": 666,
"cds_end": null,
"cds_length": 1563,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_014337.4",
"gene_hgnc_id": 9261,
"gene_symbol": "PPIL2",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000398831.8",
"protein_coding": true,
"protein_id": "NP_055152.1",
"strand": true,
"transcript": "NM_014337.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 520,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4068,
"cdna_start": 666,
"cds_end": null,
"cds_length": 1563,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000398831.8",
"gene_hgnc_id": 9261,
"gene_symbol": "PPIL2",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014337.4",
"protein_coding": true,
"protein_id": "ENSP00000381812.3",
"strand": true,
"transcript": "ENST00000398831.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 527,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2625,
"cdna_start": 656,
"cds_end": null,
"cds_length": 1584,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000626352.2",
"gene_hgnc_id": 9261,
"gene_symbol": "PPIL2",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486725.1",
"strand": true,
"transcript": "ENST00000626352.2",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 520,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4929,
"cdna_start": 669,
"cds_end": null,
"cds_length": 1563,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000335025.12",
"gene_hgnc_id": 9261,
"gene_symbol": "PPIL2",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000334553.7",
"strand": true,
"transcript": "ENST00000335025.12",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 520,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3875,
"cdna_start": 638,
"cds_end": null,
"cds_length": 1563,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000406385.1",
"gene_hgnc_id": 9261,
"gene_symbol": "PPIL2",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384299.1",
"strand": true,
"transcript": "ENST00000406385.1",
"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": 2411,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000496819.2",
"gene_hgnc_id": 9261,
"gene_symbol": "PPIL2",
"hgvs_c": "n.1272C>A",
"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": "ENST00000496819.2",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 614,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3343,
"cdna_start": 650,
"cds_end": null,
"cds_length": 1845,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000680094.1",
"gene_hgnc_id": 9261,
"gene_symbol": "PPIL2",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506368.1",
"strand": true,
"transcript": "ENST00000680094.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 573,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3025,
"cdna_start": 678,
"cds_end": null,
"cds_length": 1722,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000681338.1",
"gene_hgnc_id": 9261,
"gene_symbol": "PPIL2",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505107.1",
"strand": true,
"transcript": "ENST00000681338.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 549,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3237,
"cdna_start": 657,
"cds_end": null,
"cds_length": 1650,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000679477.1",
"gene_hgnc_id": 9261,
"gene_symbol": "PPIL2",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505978.1",
"strand": true,
"transcript": "ENST00000679477.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 527,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2676,
"cdna_start": 666,
"cds_end": null,
"cds_length": 1584,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_148176.3",
"gene_hgnc_id": 9261,
"gene_symbol": "PPIL2",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_680481.1",
"strand": true,
"transcript": "NM_148176.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 520,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3698,
"cdna_start": 666,
"cds_end": null,
"cds_length": 1563,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001317996.2",
"gene_hgnc_id": 9261,
"gene_symbol": "PPIL2",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304925.1",
"strand": true,
"transcript": "NM_001317996.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 520,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4926,
"cdna_start": 666,
"cds_end": null,
"cds_length": 1563,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_148175.3",
"gene_hgnc_id": 9261,
"gene_symbol": "PPIL2",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_680480.1",
"strand": true,
"transcript": "NM_148175.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 520,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3507,
"cdna_start": 678,
"cds_end": null,
"cds_length": 1563,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000679534.1",
"gene_hgnc_id": 9261,
"gene_symbol": "PPIL2",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504893.1",
"strand": true,
"transcript": "ENST00000679534.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 520,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3005,
"cdna_start": 678,
"cds_end": null,
"cds_length": 1563,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000679540.1",
"gene_hgnc_id": 9261,
"gene_symbol": "PPIL2",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506328.1",
"strand": true,
"transcript": "ENST00000679540.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 520,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4051,
"cdna_start": 678,
"cds_end": null,
"cds_length": 1563,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000679795.1",
"gene_hgnc_id": 9261,
"gene_symbol": "PPIL2",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506144.1",
"strand": true,
"transcript": "ENST00000679795.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 520,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3080,
"cdna_start": 678,
"cds_end": null,
"cds_length": 1563,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000680061.1",
"gene_hgnc_id": 9261,
"gene_symbol": "PPIL2",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505910.1",
"strand": true,
"transcript": "ENST00000680061.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 520,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2840,
"cdna_start": 678,
"cds_end": null,
"cds_length": 1563,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000680393.1",
"gene_hgnc_id": 9261,
"gene_symbol": "PPIL2",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506542.1",
"strand": true,
"transcript": "ENST00000680393.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 520,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4168,
"cdna_start": 678,
"cds_end": null,
"cds_length": 1563,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000681956.1",
"gene_hgnc_id": 9261,
"gene_symbol": "PPIL2",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506158.1",
"strand": true,
"transcript": "ENST00000681956.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 510,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2692,
"cdna_start": 678,
"cds_end": null,
"cds_length": 1533,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000679827.1",
"gene_hgnc_id": 9261,
"gene_symbol": "PPIL2",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504929.1",
"strand": true,
"transcript": "ENST00000679827.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 499,
"aa_ref": "P",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3076,
"cdna_start": 583,
"cds_end": null,
"cds_length": 1500,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000680109.1",
"gene_hgnc_id": 9261,
"gene_symbol": "PPIL2",
"hgvs_c": "c.515C>A",
"hgvs_p": "p.Pro172Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506219.1",
"strand": true,
"transcript": "ENST00000680109.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 342,
"aa_ref": "P",
"aa_start": 15,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3062,
"cdna_start": 569,
"cds_end": null,
"cds_length": 1029,
"cds_start": 44,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000680860.1",
"gene_hgnc_id": 9261,
"gene_symbol": "PPIL2",
"hgvs_c": "c.44C>A",
"hgvs_p": "p.Pro15Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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