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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: 19-33301463-T-TCAGCTCCAGCACCTTCTGCTGCGTCTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=33301463&ref=T&alt=TCAGCTCCAGCACCTTCTGCTGCGTCTC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM4",
"PP5"
],
"effects": [
"conservative_inframe_insertion"
],
"gene_symbol": "CEBPA",
"hgnc_id": 1833,
"hgvs_c": "c.1030_1056dupGAGACGCAGCAGAAGGTGCTGGAGCTG",
"hgvs_p": "p.Leu352_Thr353insGluThrGlnGlnLysValLeuGluLeu",
"inheritance_mode": "AD",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_001287424.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP5"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000267727",
"hgnc_id": null,
"hgvs_c": "n.188_214dupGCTCCAGCACCTTCTGCTGCGTCTCCA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000587312.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PM4,PP5",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TCAGCTCCAGCACCTTCTGCTGCGTCTC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Acute myeloid leukemia",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "LETQQKVLEL",
"aa_end": null,
"aa_length": 358,
"aa_ref": "L",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2601,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1077,
"cds_start": 951,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_004364.5",
"gene_hgnc_id": 1833,
"gene_symbol": "CEBPA",
"hgvs_c": "c.925_951dupGAGACGCAGCAGAAGGTGCTGGAGCTG",
"hgvs_p": "p.Leu317_Thr318insGluThrGlnGlnLysValLeuGluLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000498907.3",
"protein_coding": true,
"protein_id": "NP_004355.2",
"strand": false,
"transcript": "NM_004364.5",
"transcript_support_level": null
},
{
"aa_alt": "LETQQKVLEL",
"aa_end": null,
"aa_length": 358,
"aa_ref": "L",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2601,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1077,
"cds_start": 951,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000498907.3",
"gene_hgnc_id": 1833,
"gene_symbol": "CEBPA",
"hgvs_c": "c.925_951dupGAGACGCAGCAGAAGGTGCTGGAGCTG",
"hgvs_p": "p.Leu317_Thr318insGluThrGlnGlnLysValLeuGluLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004364.5",
"protein_coding": true,
"protein_id": "ENSP00000427514.1",
"strand": false,
"transcript": "ENST00000498907.3",
"transcript_support_level": 6
},
{
"aa_alt": "LETQQKVLEL",
"aa_end": null,
"aa_length": 393,
"aa_ref": "L",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2601,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1182,
"cds_start": 1056,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001287424.2",
"gene_hgnc_id": 1833,
"gene_symbol": "CEBPA",
"hgvs_c": "c.1030_1056dupGAGACGCAGCAGAAGGTGCTGGAGCTG",
"hgvs_p": "p.Leu352_Thr353insGluThrGlnGlnLysValLeuGluLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274353.1",
"strand": false,
"transcript": "NM_001287424.2",
"transcript_support_level": null
},
{
"aa_alt": "LETQQKVLEL",
"aa_end": null,
"aa_length": 344,
"aa_ref": "L",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2601,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 1035,
"cds_start": 909,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001287435.2",
"gene_hgnc_id": 1833,
"gene_symbol": "CEBPA",
"hgvs_c": "c.883_909dupGAGACGCAGCAGAAGGTGCTGGAGCTG",
"hgvs_p": "p.Leu303_Thr304insGluThrGlnGlnLysValLeuGluLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001274364.1",
"strand": false,
"transcript": "NM_001287435.2",
"transcript_support_level": null
},
{
"aa_alt": "LETQQKVLEL",
"aa_end": null,
"aa_length": 239,
"aa_ref": "L",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2601,
"cdna_start": 1071,
"cds_end": null,
"cds_length": 720,
"cds_start": 594,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 1,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001285829.2",
"gene_hgnc_id": 1833,
"gene_symbol": "CEBPA",
"hgvs_c": "c.568_594dupGAGACGCAGCAGAAGGTGCTGGAGCTG",
"hgvs_p": "p.Leu198_Thr199insGluThrGlnGlnLysValLeuGluLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001272758.1",
"strand": false,
"transcript": "NM_001285829.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 482,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000587312.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000267727",
"hgvs_c": "n.188_214dupGCTCCAGCACCTTCTGCTGCGTCTCCA",
"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": "ENST00000587312.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1555741967",
"effect": "conservative_inframe_insertion",
"frequency_reference_population": null,
"gene_hgnc_id": 1833,
"gene_symbol": "CEBPA",
"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": "Pathogenic",
"phenotype_combined": "Acute myeloid leukemia",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.397,
"pos": 33301463,
"ref": "T",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001287424.2"
}
]
}