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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: 11-66871101-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66871101&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PC",
"hgnc_id": 8636,
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"inheritance_mode": "AR",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_000920.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5_Moderate",
"acmg_score": 5,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.9906,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.5,
"chr": "11",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Pyruvate carboxylase deficiency",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.987881064414978,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "A",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4305,
"cdna_start": 873,
"cds_end": null,
"cds_length": 3537,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001040716.2",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393960.7",
"protein_coding": true,
"protein_id": "NP_001035806.1",
"strand": false,
"transcript": "NM_001040716.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "A",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4305,
"cdna_start": 873,
"cds_end": null,
"cds_length": 3537,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000393960.7",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001040716.2",
"protein_coding": true,
"protein_id": "ENSP00000377532.1",
"strand": false,
"transcript": "ENST00000393960.7",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "A",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4004,
"cdna_start": 665,
"cds_end": null,
"cds_length": 3537,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000393955.6",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377527.2",
"strand": false,
"transcript": "ENST00000393955.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "A",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4017,
"cdna_start": 685,
"cds_end": null,
"cds_length": 3537,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000393958.7",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377530.2",
"strand": false,
"transcript": "ENST00000393958.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 511,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000525476.2",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "n.290-21036C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000525476.2",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1247,
"aa_ref": "A",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4173,
"cdna_start": 639,
"cds_end": null,
"cds_length": 3744,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882265.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552324.1",
"strand": false,
"transcript": "ENST00000882265.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1247,
"aa_ref": "A",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4219,
"cdna_start": 685,
"cds_end": null,
"cds_length": 3744,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000951202.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621261.1",
"strand": false,
"transcript": "ENST00000951202.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "A",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4117,
"cdna_start": 685,
"cds_end": null,
"cds_length": 3537,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_000920.4",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000911.2",
"strand": false,
"transcript": "NM_000920.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "A",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4245,
"cdna_start": 813,
"cds_end": null,
"cds_length": 3537,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001439352.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426281.1",
"strand": false,
"transcript": "NM_001439352.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "A",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4078,
"cdna_start": 646,
"cds_end": null,
"cds_length": 3537,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001439353.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426282.1",
"strand": false,
"transcript": "NM_001439353.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "A",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4562,
"cdna_start": 1130,
"cds_end": null,
"cds_length": 3537,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001439355.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426284.1",
"strand": false,
"transcript": "NM_001439355.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 1178,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4374,
"cdna_start": 942,
"cds_end": null,
"cds_length": 3537,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001439357.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426286.1",
"strand": false,
"transcript": "NM_001439357.1",
"transcript_support_level": null
},
{
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"aa_length": 1178,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4281,
"cdna_start": 849,
"cds_end": null,
"cds_length": 3537,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001439358.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426287.1",
"strand": false,
"transcript": "NM_001439358.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "A",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4163,
"cdna_start": 731,
"cds_end": null,
"cds_length": 3537,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001439359.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426288.1",
"strand": false,
"transcript": "NM_001439359.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 1178,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4149,
"cdna_start": 717,
"cds_end": null,
"cds_length": 3537,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_022172.3",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_071504.2",
"strand": false,
"transcript": "NM_022172.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "A",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4248,
"cdna_start": 813,
"cds_end": null,
"cds_length": 3537,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000529047.6",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435905.2",
"strand": false,
"transcript": "ENST00000529047.6",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "A",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4747,
"cdna_start": 1434,
"cds_end": null,
"cds_length": 3537,
"cds_start": 584,
"consequences": [
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],
"exon_count": 25,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000651036.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498406.1",
"strand": false,
"transcript": "ENST00000651036.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 1178,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5137,
"cdna_start": 1835,
"cds_end": null,
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"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000651854.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498994.1",
"strand": false,
"transcript": "ENST00000651854.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "A",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4351,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 3537,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000652125.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498302.1",
"strand": false,
"transcript": "ENST00000652125.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "A",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4451,
"cdna_start": 807,
"cds_end": null,
"cds_length": 3537,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882252.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552311.1",
"strand": false,
"transcript": "ENST00000882252.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "A",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4117,
"cdna_start": 787,
"cds_end": null,
"cds_length": 3537,
"cds_start": 584,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000882253.1",
"gene_hgnc_id": 8636,
"gene_symbol": "PC",
"hgvs_c": "c.584C>T",
"hgvs_p": "p.Ala195Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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