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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: 1-209789671-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=209789671&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IRF6",
"hgnc_id": 6121,
"hgvs_c": "c.1175T>G",
"hgvs_p": "p.Val392Gly",
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_006147.4",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENSG00000289700",
"hgnc_id": null,
"hgvs_c": "c.1175T>G",
"hgvs_p": "p.Val392Gly",
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000696133.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Moderate",
"acmg_score": 7,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9694,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.54,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Orofacial cleft 10",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9150115847587585,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "V",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4478,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1175,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_006147.4",
"gene_hgnc_id": 6121,
"gene_symbol": "IRF6",
"hgvs_c": "c.1175T>G",
"hgvs_p": "p.Val392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367021.8",
"protein_coding": true,
"protein_id": "NP_006138.1",
"strand": false,
"transcript": "NM_006147.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "V",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4478,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1175,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000367021.8",
"gene_hgnc_id": 6121,
"gene_symbol": "IRF6",
"hgvs_c": "c.1175T>G",
"hgvs_p": "p.Val392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006147.4",
"protein_coding": true,
"protein_id": "ENSP00000355988.3",
"strand": false,
"transcript": "ENST00000367021.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 486,
"aa_ref": "V",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5789,
"cdna_start": 1483,
"cds_end": null,
"cds_length": 1461,
"cds_start": 1175,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000696133.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000289700",
"hgvs_c": "c.1175T>G",
"hgvs_p": "p.Val392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512426.1",
"strand": false,
"transcript": "ENST00000696133.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "V",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4787,
"cdna_start": 1392,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1175,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000863915.1",
"gene_hgnc_id": 6121,
"gene_symbol": "IRF6",
"hgvs_c": "c.1175T>G",
"hgvs_p": "p.Val392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533974.1",
"strand": false,
"transcript": "ENST00000863915.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "V",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4391,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1175,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000863916.1",
"gene_hgnc_id": 6121,
"gene_symbol": "IRF6",
"hgvs_c": "c.1175T>G",
"hgvs_p": "p.Val392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533975.1",
"strand": false,
"transcript": "ENST00000863916.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "V",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4834,
"cdna_start": 1879,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1175,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000863917.1",
"gene_hgnc_id": 6121,
"gene_symbol": "IRF6",
"hgvs_c": "c.1175T>G",
"hgvs_p": "p.Val392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533976.1",
"strand": false,
"transcript": "ENST00000863917.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "V",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2121,
"cdna_start": 1584,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1175,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000863918.1",
"gene_hgnc_id": 6121,
"gene_symbol": "IRF6",
"hgvs_c": "c.1175T>G",
"hgvs_p": "p.Val392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533977.1",
"strand": false,
"transcript": "ENST00000863918.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "V",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1939,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1175,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000950196.1",
"gene_hgnc_id": 6121,
"gene_symbol": "IRF6",
"hgvs_c": "c.1175T>G",
"hgvs_p": "p.Val392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620255.1",
"strand": false,
"transcript": "ENST00000950196.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "V",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1737,
"cdna_start": 1346,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1175,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000950197.1",
"gene_hgnc_id": 6121,
"gene_symbol": "IRF6",
"hgvs_c": "c.1175T>G",
"hgvs_p": "p.Val392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620256.1",
"strand": false,
"transcript": "ENST00000950197.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 467,
"aa_ref": "V",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1698,
"cdna_start": 1302,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1175,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000950198.1",
"gene_hgnc_id": 6121,
"gene_symbol": "IRF6",
"hgvs_c": "c.1175T>G",
"hgvs_p": "p.Val392Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620257.1",
"strand": false,
"transcript": "ENST00000950198.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 464,
"aa_ref": "V",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2159,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1166,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000927431.1",
"gene_hgnc_id": 6121,
"gene_symbol": "IRF6",
"hgvs_c": "c.1166T>G",
"hgvs_p": "p.Val389Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597490.1",
"strand": false,
"transcript": "ENST00000927431.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 372,
"aa_ref": "V",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4229,
"cdna_start": 1197,
"cds_end": null,
"cds_length": 1119,
"cds_start": 890,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001206696.2",
"gene_hgnc_id": 6121,
"gene_symbol": "IRF6",
"hgvs_c": "c.890T>G",
"hgvs_p": "p.Val297Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001193625.1",
"strand": false,
"transcript": "NM_001206696.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 372,
"aa_ref": "V",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4256,
"cdna_start": 1230,
"cds_end": null,
"cds_length": 1119,
"cds_start": 890,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000542854.5",
"gene_hgnc_id": 6121,
"gene_symbol": "IRF6",
"hgvs_c": "c.890T>G",
"hgvs_p": "p.Val297Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440532.1",
"strand": false,
"transcript": "ENST00000542854.5",
"transcript_support_level": 2
},
{
"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": 1697,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000643798.1",
"gene_hgnc_id": 6121,
"gene_symbol": "IRF6",
"hgvs_c": "n.*685T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496669.1",
"strand": false,
"transcript": "ENST00000643798.1",
"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": 4558,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000696134.1",
"gene_hgnc_id": 6121,
"gene_symbol": "IRF6",
"hgvs_c": "n.*602T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512427.1",
"strand": false,
"transcript": "ENST00000696134.1",
"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": 1697,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000643798.1",
"gene_hgnc_id": 6121,
"gene_symbol": "IRF6",
"hgvs_c": "n.*685T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496669.1",
"strand": false,
"transcript": "ENST00000643798.1",
"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": 4558,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000696134.1",
"gene_hgnc_id": 6121,
"gene_symbol": "IRF6",
"hgvs_c": "n.*602T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512427.1",
"strand": false,
"transcript": "ENST00000696134.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1553247688",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 6121,
"gene_symbol": "IRF6",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Orofacial cleft 10",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.491,
"pos": 209789671,
"ref": "A",
"revel_prediction": "Pathogenic",
"revel_score": 0.926,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_006147.4"
}
]
}