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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: 11-19391114-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=19391114&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 19391114,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001111018.2",
"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": 38,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.75+40087G>A",
"hgvs_p": null,
"transcript": "ENST00000360655.8",
"protein_id": "ENSP00000353871.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2365,
"cds_start": -4,
"cds_end": null,
"cds_length": 7098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10667,
"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": 39,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.75+40087G>A",
"hgvs_p": null,
"transcript": "NM_001111018.2",
"protein_id": "NP_001104488.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2365,
"cds_start": -4,
"cds_end": null,
"cds_length": 7098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11097,
"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": 42,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.75+40087G>A",
"hgvs_p": null,
"transcript": "XM_017018520.3",
"protein_id": "XP_016874009.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2424,
"cds_start": -4,
"cds_end": null,
"cds_length": 7275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11274,
"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": 41,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.75+40087G>A",
"hgvs_p": null,
"transcript": "XM_024448758.2",
"protein_id": "XP_024304526.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2424,
"cds_start": -4,
"cds_end": null,
"cds_length": 7275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11663,
"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": 41,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.75+40087G>A",
"hgvs_p": null,
"transcript": "XM_017018522.2",
"protein_id": "XP_016874011.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2401,
"cds_start": -4,
"cds_end": null,
"cds_length": 7206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11205,
"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": 40,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.75+40087G>A",
"hgvs_p": null,
"transcript": "XM_047427820.1",
"protein_id": "XP_047283776.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2401,
"cds_start": -4,
"cds_end": null,
"cds_length": 7206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11594,
"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": 40,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.75+40087G>A",
"hgvs_p": null,
"transcript": "XM_047427824.1",
"protein_id": "XP_047283780.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2388,
"cds_start": -4,
"cds_end": null,
"cds_length": 7167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11166,
"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": 37,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.75+40087G>A",
"hgvs_p": null,
"transcript": "XM_047427825.1",
"protein_id": "XP_047283781.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2361,
"cds_start": -4,
"cds_end": null,
"cds_length": 7086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11474,
"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": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.75+40087G>A",
"hgvs_p": null,
"transcript": "XM_047427828.1",
"protein_id": "XP_047283784.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2343,
"cds_start": -4,
"cds_end": null,
"cds_length": 7032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11031,
"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": 38,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.75+40087G>A",
"hgvs_p": null,
"transcript": "XM_047427830.1",
"protein_id": "XP_047283786.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2331,
"cds_start": -4,
"cds_end": null,
"cds_length": 6996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10995,
"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": 37,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.75+40087G>A",
"hgvs_p": null,
"transcript": "XM_047427831.1",
"protein_id": "XP_047283787.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2328,
"cds_start": -4,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10986,
"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": 36,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"hgvs_c": "c.75+40087G>A",
"hgvs_p": null,
"transcript": "XM_047427833.1",
"protein_id": "XP_047283789.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2328,
"cds_start": -4,
"cds_end": null,
"cds_length": 6987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NAV2",
"gene_hgnc_id": 15997,
"dbsnp": "rs4073508",
"frequency_reference_population": 0.6136262,
"hom_count_reference_population": 31025,
"allele_count_reference_population": 93227,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.613626,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 93227,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 31025,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.7,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001111018.2",
"gene_symbol": "NAV2",
"hgnc_id": 15997,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.75+40087G>A",
"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
}