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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: 7-117642451-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=117642451&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CFTR",
"hgnc_id": 1884,
"hgvs_c": "c.3731G>A",
"hgvs_p": "p.Gly1244Glu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 21,
"score": 21,
"transcript": "NM_000492.4",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000083622",
"hgnc_id": 40145,
"hgvs_c": "n.65+4900C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 18,
"score": 18,
"transcript": "ENST00000456270.1",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CFTR-AS2",
"hgnc_id": 40145,
"hgvs_c": "n.65+4900C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 18,
"score": 18,
"transcript": "NR_199597.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_score": 21,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": 0.9886,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.59,
"chr": "7",
"clinvar_classification": " drug response,Pathogenic",
"clinvar_disease": "Bronchiectasis with or without elevated sweat chloride 1,CFTR-related disorder,Congenital bilateral aplasia of vas deferens from CFTR mutation,Cystic fibrosis,Hereditary pancreatitis,ivacaftor response - Efficacy",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:9 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9925721883773804,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1480,
"aa_ref": "G",
"aa_start": 1244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6070,
"cdna_start": 3801,
"cds_end": null,
"cds_length": 4443,
"cds_start": 3731,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_000492.4",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.3731G>A",
"hgvs_p": "p.Gly1244Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000003084.11",
"protein_coding": true,
"protein_id": "NP_000483.3",
"strand": true,
"transcript": "NM_000492.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1480,
"aa_ref": "G",
"aa_start": 1244,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6070,
"cdna_start": 3801,
"cds_end": null,
"cds_length": 4443,
"cds_start": 3731,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000003084.11",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.3731G>A",
"hgvs_p": "p.Gly1244Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000492.4",
"protein_coding": true,
"protein_id": "ENSP00000003084.6",
"strand": true,
"transcript": "ENST00000003084.11",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1478,
"aa_ref": "G",
"aa_start": 1242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6024,
"cdna_start": 3832,
"cds_end": null,
"cds_length": 4437,
"cds_start": 3725,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000699602.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.3725G>A",
"hgvs_p": "p.Gly1242Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514471.1",
"strand": true,
"transcript": "ENST00000699602.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "G",
"aa_start": 1215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6023,
"cdna_start": 3759,
"cds_end": null,
"cds_length": 4356,
"cds_start": 3644,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000889206.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.3644G>A",
"hgvs_p": "p.Gly1215Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559265.1",
"strand": true,
"transcript": "ENST00000889206.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1450,
"aa_ref": "G",
"aa_start": 1244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5978,
"cdna_start": 3799,
"cds_end": null,
"cds_length": 4353,
"cds_start": 3731,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000889209.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.3731G>A",
"hgvs_p": "p.Gly1244Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559268.1",
"strand": true,
"transcript": "ENST00000889209.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "G",
"aa_start": 1214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4316,
"cdna_start": 3641,
"cds_end": null,
"cds_length": 4316,
"cds_start": 3641,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000426809.5",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.3641G>A",
"hgvs_p": "p.Gly1214Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389119.1",
"strand": true,
"transcript": "ENST00000426809.5",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1437,
"aa_ref": "G",
"aa_start": 1201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5941,
"cdna_start": 3672,
"cds_end": null,
"cds_length": 4314,
"cds_start": 3602,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000889208.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.3602G>A",
"hgvs_p": "p.Gly1201Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559267.1",
"strand": true,
"transcript": "ENST00000889208.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1419,
"aa_ref": "G",
"aa_start": 1183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5824,
"cdna_start": 3632,
"cds_end": null,
"cds_length": 4260,
"cds_start": 3548,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000649781.2",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.3548G>A",
"hgvs_p": "p.Gly1183Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497203.1",
"strand": true,
"transcript": "ENST00000649781.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1376,
"aa_ref": "G",
"aa_start": 1140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5753,
"cdna_start": 3489,
"cds_end": null,
"cds_length": 4131,
"cds_start": 3419,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000889210.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.3419G>A",
"hgvs_p": "p.Gly1140Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559269.1",
"strand": true,
"transcript": "ENST00000889210.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1354,
"aa_ref": "G",
"aa_start": 1118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5720,
"cdna_start": 3451,
"cds_end": null,
"cds_length": 4065,
"cds_start": 3353,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000889207.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.3353G>A",
"hgvs_p": "p.Gly1118Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559266.1",
"strand": true,
"transcript": "ENST00000889207.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1338,
"aa_ref": "G",
"aa_start": 1102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5919,
"cdna_start": 3727,
"cds_end": null,
"cds_length": 4017,
"cds_start": 3305,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000699605.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.3305G>A",
"hgvs_p": "p.Gly1102Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514473.1",
"strand": true,
"transcript": "ENST00000699605.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1135,
"aa_ref": "G",
"aa_start": 899,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5096,
"cdna_start": 2832,
"cds_end": null,
"cds_length": 3408,
"cds_start": 2696,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000950799.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.2696G>A",
"hgvs_p": "p.Gly899Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620858.1",
"strand": true,
"transcript": "ENST00000950799.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 279,
"aa_ref": "G",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2842,
"cdna_start": 313,
"cds_end": null,
"cds_length": 840,
"cds_start": 311,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000689011.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "c.311G>A",
"hgvs_p": "p.Gly104Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510587.1",
"strand": true,
"transcript": "ENST00000689011.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5804,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000647720.2",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "n.3531G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497673.2",
"strand": true,
"transcript": "ENST00000647720.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5898,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000647978.2",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "n.*3445G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000497658.1",
"strand": true,
"transcript": "ENST00000647978.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6223,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000685018.2",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "n.3731G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510194.2",
"strand": true,
"transcript": "ENST00000685018.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4888,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000687278.2",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "n.*384G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000509593.2",
"strand": true,
"transcript": "ENST00000687278.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6065,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000699585.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "n.3531G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514456.1",
"strand": true,
"transcript": "ENST00000699585.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4931,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000699598.1",
"gene_hgnc_id": 1884,
"gene_symbol": "CFTR",
"hgvs_c": "n.3731G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514467.1",
"strand": true,
"transcript": "ENST00000699598.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5054,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
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}