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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: 15-92937531-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=92937531&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 92937531,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000394196.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "c.457C>G",
"hgvs_p": "p.Gln153Glu",
"transcript": "NM_001271.4",
"protein_id": "NP_001262.3",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1828,
"cds_start": 457,
"cds_end": null,
"cds_length": 5487,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 9350,
"mane_select": "ENST00000394196.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "c.457C>G",
"hgvs_p": "p.Gln153Glu",
"transcript": "ENST00000394196.9",
"protein_id": "ENSP00000377747.4",
"transcript_support_level": 5,
"aa_start": 153,
"aa_end": null,
"aa_length": 1828,
"cds_start": 457,
"cds_end": null,
"cds_length": 5487,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 9350,
"mane_select": "NM_001271.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "c.457C>G",
"hgvs_p": "p.Gln153Glu",
"transcript": "ENST00000626874.2",
"protein_id": "ENSP00000486629.1",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 1739,
"cds_start": 457,
"cds_end": null,
"cds_length": 5220,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 7764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "c.457C>G",
"hgvs_p": "p.Gln153Glu",
"transcript": "ENST00000420239.7",
"protein_id": "ENSP00000406581.2",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 501,
"cds_start": 457,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "c.163C>G",
"hgvs_p": "p.Gln55Glu",
"transcript": "ENST00000625990.3",
"protein_id": "ENSP00000485890.2",
"transcript_support_level": 5,
"aa_start": 55,
"aa_end": null,
"aa_length": 703,
"cds_start": 163,
"cds_end": null,
"cds_length": 2112,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 2827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "c.496C>G",
"hgvs_p": "p.Gln166Glu",
"transcript": "ENST00000626782.2",
"protein_id": "ENSP00000486487.1",
"transcript_support_level": 2,
"aa_start": 166,
"aa_end": null,
"aa_length": 514,
"cds_start": 496,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 2131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "c.457C>G",
"hgvs_p": "p.Gln153Glu",
"transcript": "NM_001042572.3",
"protein_id": "NP_001036037.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 501,
"cds_start": 457,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "n.423C>G",
"hgvs_p": null,
"transcript": "ENST00000629136.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "n.649C>G",
"hgvs_p": null,
"transcript": "ENST00000630790.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "n.1029C>G",
"hgvs_p": null,
"transcript": "ENST00000635856.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "n.438C>G",
"hgvs_p": null,
"transcript": "ENST00000637572.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "n.395C>G",
"hgvs_p": null,
"transcript": "ENST00000700549.1",
"protein_id": "ENSP00000515055.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "n.457C>G",
"hgvs_p": null,
"transcript": "ENST00000700550.1",
"protein_id": "ENSP00000515056.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4645,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "n.457C>G",
"hgvs_p": null,
"transcript": "ENST00000700551.1",
"protein_id": "ENSP00000515057.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "c.444-2047C>G",
"hgvs_p": null,
"transcript": "ENST00000628375.2",
"protein_id": "ENSP00000487577.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": -4,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3202,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "n.88-2047C>G",
"hgvs_p": null,
"transcript": "ENST00000700552.1",
"protein_id": "ENSP00000515058.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"hgvs_c": "n.-39C>G",
"hgvs_p": null,
"transcript": "ENST00000625662.3",
"protein_id": "ENSP00000486007.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CHD2",
"gene_hgnc_id": 1917,
"dbsnp": "rs755510106",
"frequency_reference_population": 0.00002924133,
"hom_count_reference_population": 0,
"allele_count_reference_population": 47,
"gnomad_exomes_af": 0.0000302357,
"gnomad_genomes_af": 0.0000197265,
"gnomad_exomes_ac": 44,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.034678637981414795,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.13,
"revel_prediction": "Benign",
"alphamissense_score": 0.07,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.175,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000394196.9",
"gene_symbol": "CHD2",
"hgnc_id": 1917,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.457C>G",
"hgvs_p": "p.Gln153Glu"
}
],
"clinvar_disease": "Developmental and epileptic encephalopathy 94,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "Developmental and epileptic encephalopathy 94|not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}