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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: 1-27548302-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=27548302&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "AHDC1",
"hgnc_id": 25230,
"hgvs_c": "c.3814C>T",
"hgvs_p": "p.Arg1272*",
"inheritance_mode": "AD",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_001029882.3",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000300470",
"hgnc_id": null,
"hgvs_c": "n.184+5638G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 14,
"score": 14,
"transcript": "ENST00000772091.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.53,
"chr": "1",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5299999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "R",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6428,
"cdna_start": 4715,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3814,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001371928.1",
"gene_hgnc_id": 25230,
"gene_symbol": "AHDC1",
"hgvs_c": "c.3814C>T",
"hgvs_p": "p.Arg1272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000673934.1",
"protein_coding": true,
"protein_id": "NP_001358857.1",
"strand": false,
"transcript": "NM_001371928.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "R",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6428,
"cdna_start": 4715,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3814,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000673934.1",
"gene_hgnc_id": 25230,
"gene_symbol": "AHDC1",
"hgvs_c": "c.3814C>T",
"hgvs_p": "p.Arg1272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001371928.1",
"protein_coding": true,
"protein_id": "ENSP00000501218.1",
"strand": false,
"transcript": "ENST00000673934.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "R",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6358,
"cdna_start": 4645,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3814,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001029882.3",
"gene_hgnc_id": 25230,
"gene_symbol": "AHDC1",
"hgvs_c": "c.3814C>T",
"hgvs_p": "p.Arg1272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001025053.1",
"strand": false,
"transcript": "NM_001029882.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "R",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6335,
"cdna_start": 4412,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3814,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000247087.10",
"gene_hgnc_id": 25230,
"gene_symbol": "AHDC1",
"hgvs_c": "c.3814C>T",
"hgvs_p": "p.Arg1272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000247087.4",
"strand": false,
"transcript": "ENST00000247087.10",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "R",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6438,
"cdna_start": 4783,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3814,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000374011.6",
"gene_hgnc_id": 25230,
"gene_symbol": "AHDC1",
"hgvs_c": "c.3814C>T",
"hgvs_p": "p.Arg1272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363123.2",
"strand": false,
"transcript": "ENST00000374011.6",
"transcript_support_level": 5
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "R",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5988,
"cdna_start": 4715,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3814,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000642245.1",
"gene_hgnc_id": 25230,
"gene_symbol": "AHDC1",
"hgvs_c": "c.3814C>T",
"hgvs_p": "p.Arg1272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495072.1",
"strand": false,
"transcript": "ENST00000642245.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "R",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5734,
"cdna_start": 4437,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3814,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000642416.1",
"gene_hgnc_id": 25230,
"gene_symbol": "AHDC1",
"hgvs_c": "c.3814C>T",
"hgvs_p": "p.Arg1272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494394.1",
"strand": false,
"transcript": "ENST00000642416.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "R",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6103,
"cdna_start": 4418,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3814,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000644989.1",
"gene_hgnc_id": 25230,
"gene_symbol": "AHDC1",
"hgvs_c": "c.3814C>T",
"hgvs_p": "p.Arg1272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495665.1",
"strand": false,
"transcript": "ENST00000644989.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "R",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5562,
"cdna_start": 4265,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3814,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000868919.1",
"gene_hgnc_id": 25230,
"gene_symbol": "AHDC1",
"hgvs_c": "c.3814C>T",
"hgvs_p": "p.Arg1272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538978.1",
"strand": false,
"transcript": "ENST00000868919.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "R",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5717,
"cdna_start": 4420,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3814,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000868920.1",
"gene_hgnc_id": 25230,
"gene_symbol": "AHDC1",
"hgvs_c": "c.3814C>T",
"hgvs_p": "p.Arg1272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538979.1",
"strand": false,
"transcript": "ENST00000868920.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "R",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5860,
"cdna_start": 4563,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3814,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000868921.1",
"gene_hgnc_id": 25230,
"gene_symbol": "AHDC1",
"hgvs_c": "c.3814C>T",
"hgvs_p": "p.Arg1272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538980.1",
"strand": false,
"transcript": "ENST00000868921.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "R",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6027,
"cdna_start": 4730,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3814,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868922.1",
"gene_hgnc_id": 25230,
"gene_symbol": "AHDC1",
"hgvs_c": "c.3814C>T",
"hgvs_p": "p.Arg1272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538981.1",
"strand": false,
"transcript": "ENST00000868922.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "R",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6189,
"cdna_start": 4481,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3814,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000931339.1",
"gene_hgnc_id": 25230,
"gene_symbol": "AHDC1",
"hgvs_c": "c.3814C>T",
"hgvs_p": "p.Arg1272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601398.1",
"strand": false,
"transcript": "ENST00000931339.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "R",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5817,
"cdna_start": 4333,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3814,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000931340.1",
"gene_hgnc_id": 25230,
"gene_symbol": "AHDC1",
"hgvs_c": "c.3814C>T",
"hgvs_p": "p.Arg1272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601399.1",
"strand": false,
"transcript": "ENST00000931340.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "R",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6006,
"cdna_start": 4297,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3814,
"consequences": [
"stop_gained"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000931341.1",
"gene_hgnc_id": 25230,
"gene_symbol": "AHDC1",
"hgvs_c": "c.3814C>T",
"hgvs_p": "p.Arg1272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601400.1",
"strand": false,
"transcript": "ENST00000931341.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "R",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6477,
"cdna_start": 4822,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3814,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000954237.1",
"gene_hgnc_id": 25230,
"gene_symbol": "AHDC1",
"hgvs_c": "c.3814C>T",
"hgvs_p": "p.Arg1272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624296.1",
"strand": false,
"transcript": "ENST00000954237.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "R",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6494,
"cdna_start": 4781,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3814,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_005245849.4",
"gene_hgnc_id": 25230,
"gene_symbol": "AHDC1",
"hgvs_c": "c.3814C>T",
"hgvs_p": "p.Arg1272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245906.1",
"strand": false,
"transcript": "XM_005245849.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "R",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6514,
"cdna_start": 4801,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3814,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_005245850.4",
"gene_hgnc_id": 25230,
"gene_symbol": "AHDC1",
"hgvs_c": "c.3814C>T",
"hgvs_p": "p.Arg1272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245907.1",
"strand": false,
"transcript": "XM_005245850.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "R",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6386,
"cdna_start": 4673,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3814,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_005245851.4",
"gene_hgnc_id": 25230,
"gene_symbol": "AHDC1",
"hgvs_c": "c.3814C>T",
"hgvs_p": "p.Arg1272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245908.1",
"strand": false,
"transcript": "XM_005245851.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 1603,
"aa_ref": "R",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6163,
"cdna_start": 4450,
"cds_end": null,
"cds_length": 4812,
"cds_start": 3814,
"consequences": [
"stop_gained"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005245852.4",
"gene_hgnc_id": 25230,
"gene_symbol": "AHDC1",
"hgvs_c": "c.3814C>T",
"hgvs_p": "p.Arg1272*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005245909.1",
"strand": false,
"transcript": "XM_005245852.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
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