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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: 22-20861118-G-GTTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=20861118&ref=G&alt=GTTT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 20861118,
"ref": "G",
"alt": "GTTT",
"effect": "intron_variant",
"transcript": "NM_004782.4",
"consequences": [
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNAP29",
"gene_hgnc_id": 11133,
"hgvs_c": "c.237+1787_237+1789dupTTT",
"hgvs_p": null,
"transcript": "NM_004782.4",
"protein_id": "NP_004773.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": null,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000215730.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004782.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNAP29",
"gene_hgnc_id": 11133,
"hgvs_c": "c.237+1771_237+1772insTTT",
"hgvs_p": null,
"transcript": "ENST00000215730.12",
"protein_id": "ENSP00000215730.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": null,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004782.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000215730.12"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNAP29",
"gene_hgnc_id": 11133,
"hgvs_c": "c.237+1771_237+1772insTTT",
"hgvs_p": null,
"transcript": "ENST00000880968.1",
"protein_id": "ENSP00000551027.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 267,
"cds_start": null,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880968.1"
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SNAP29",
"gene_hgnc_id": 11133,
"hgvs_c": "c.237+1771_237+1772insTTT",
"hgvs_p": null,
"transcript": "ENST00000880966.1",
"protein_id": "ENSP00000551025.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 258,
"cds_start": null,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880966.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNAP29",
"gene_hgnc_id": 11133,
"hgvs_c": "c.237+1771_237+1772insTTT",
"hgvs_p": null,
"transcript": "ENST00000938374.1",
"protein_id": "ENSP00000608433.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 257,
"cds_start": null,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938374.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNAP29",
"gene_hgnc_id": 11133,
"hgvs_c": "c.216+1792_216+1793insTTT",
"hgvs_p": null,
"transcript": "ENST00000880969.1",
"protein_id": "ENSP00000551028.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 237,
"cds_start": null,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880969.1"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNAP29",
"gene_hgnc_id": 11133,
"hgvs_c": "c.237+1771_237+1772insTTT",
"hgvs_p": null,
"transcript": "ENST00000880967.1",
"protein_id": "ENSP00000551026.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 225,
"cds_start": null,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880967.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNAP29",
"gene_hgnc_id": 11133,
"hgvs_c": "c.-43+1478_-43+1479insTTT",
"hgvs_p": null,
"transcript": "ENST00000439214.1",
"protein_id": "ENSP00000411095.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": null,
"cds_end": null,
"cds_length": 481,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439214.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SNAP29",
"gene_hgnc_id": 11133,
"hgvs_c": "n.267+1771_267+1772insTTT",
"hgvs_p": null,
"transcript": "ENST00000490458.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490458.1"
}
],
"gene_symbol": "SNAP29",
"gene_hgnc_id": 11133,
"dbsnp": "rs362237",
"frequency_reference_population": 0.011290111,
"hom_count_reference_population": 65,
"allele_count_reference_population": 1375,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0112901,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1375,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 65,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.487,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BS1,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_004782.4",
"gene_symbol": "SNAP29",
"hgnc_id": 11133,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.237+1787_237+1789dupTTT",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}