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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: 17-47678444-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=47678444&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 47678444,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000290158.9",
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.2353+31G>A",
"hgvs_p": null,
"transcript": "NM_002265.6",
"protein_id": "NP_002256.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 876,
"cds_start": -4,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6058,
"mane_select": "ENST00000290158.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.2353+31G>A",
"hgvs_p": null,
"transcript": "ENST00000290158.9",
"protein_id": "ENSP00000290158.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 876,
"cds_start": -4,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6058,
"mane_select": "NM_002265.6",
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "n.804G>A",
"hgvs_p": null,
"transcript": "ENST00000580158.2",
"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": 3338,
"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": 23,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.2353+31G>A",
"hgvs_p": null,
"transcript": "ENST00000583648.6",
"protein_id": "ENSP00000464042.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 876,
"cds_start": -4,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6182,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1918+31G>A",
"hgvs_p": null,
"transcript": "NM_001276453.2",
"protein_id": "NP_001263382.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": -4,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5945,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1918+31G>A",
"hgvs_p": null,
"transcript": "ENST00000535458.6",
"protein_id": "ENSP00000438253.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": -4,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3163,
"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": 21,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1918+31G>A",
"hgvs_p": null,
"transcript": "ENST00000540627.5",
"protein_id": "ENSP00000438964.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 731,
"cds_start": -4,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2989,
"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": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "c.1792+31G>A",
"hgvs_p": null,
"transcript": "ENST00000582097.5",
"protein_id": "ENSP00000463066.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 689,
"cds_start": -4,
"cds_end": null,
"cds_length": 2070,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2347,
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "n.1136+31G>A",
"hgvs_p": null,
"transcript": "ENST00000580573.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 2087,
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"hgvs_c": "n.1234+31G>A",
"hgvs_p": null,
"transcript": "ENST00000677341.1",
"protein_id": null,
"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": 2197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "KPNB1",
"gene_hgnc_id": 6400,
"dbsnp": "rs4239162",
"frequency_reference_population": 0.4942768,
"hom_count_reference_population": 184211,
"allele_count_reference_population": 740396,
"gnomad_exomes_af": 0.491761,
"gnomad_genomes_af": 0.516563,
"gnomad_exomes_ac": 661897,
"gnomad_genomes_ac": 78499,
"gnomad_exomes_homalt": 163480,
"gnomad_genomes_homalt": 20731,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.91,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"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": "ENST00000290158.9",
"gene_symbol": "KPNB1",
"hgnc_id": 6400,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2353+31G>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
}