← Back to variant description
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: 2-219539616-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219539616&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219539616,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024536.6",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPF",
"gene_hgnc_id": 24291,
"hgvs_c": "c.2095G>A",
"hgvs_p": "p.Glu699Lys",
"transcript": "NM_024536.6",
"protein_id": "NP_078812.3",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 775,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000243776.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024536.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPF",
"gene_hgnc_id": 24291,
"hgvs_c": "c.2095G>A",
"hgvs_p": "p.Glu699Lys",
"transcript": "ENST00000243776.11",
"protein_id": "ENSP00000243776.6",
"transcript_support_level": 1,
"aa_start": 699,
"aa_end": null,
"aa_length": 775,
"cds_start": 2095,
"cds_end": null,
"cds_length": 2328,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024536.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000243776.11"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPF",
"gene_hgnc_id": 24291,
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Glu691Lys",
"transcript": "ENST00000691864.1",
"protein_id": "ENSP00000509104.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 767,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000691864.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPF",
"gene_hgnc_id": 24291,
"hgvs_c": "c.2017G>A",
"hgvs_p": "p.Glu673Lys",
"transcript": "ENST00000919936.1",
"protein_id": "ENSP00000589995.1",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 749,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919936.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPF",
"gene_hgnc_id": 24291,
"hgvs_c": "c.1915G>A",
"hgvs_p": "p.Glu639Lys",
"transcript": "ENST00000888378.1",
"protein_id": "ENSP00000558437.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 715,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888378.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPF",
"gene_hgnc_id": 24291,
"hgvs_c": "c.1609G>A",
"hgvs_p": "p.Glu537Lys",
"transcript": "NM_001195731.2",
"protein_id": "NP_001182660.2",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 613,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195731.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPF",
"gene_hgnc_id": 24291,
"hgvs_c": "c.1609G>A",
"hgvs_p": "p.Glu537Lys",
"transcript": "ENST00000535926.3",
"protein_id": "ENSP00000445571.1",
"transcript_support_level": 2,
"aa_start": 537,
"aa_end": null,
"aa_length": 613,
"cds_start": 1609,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535926.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPF",
"gene_hgnc_id": 24291,
"hgvs_c": "c.1222G>A",
"hgvs_p": "p.Glu408Lys",
"transcript": "XM_011511838.4",
"protein_id": "XP_011510140.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 484,
"cds_start": 1222,
"cds_end": null,
"cds_length": 1455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011511838.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPF",
"gene_hgnc_id": 24291,
"hgvs_c": "n.*1279G>A",
"hgvs_p": null,
"transcript": "ENST00000688634.1",
"protein_id": "ENSP00000509339.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000688634.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPF",
"gene_hgnc_id": 24291,
"hgvs_c": "n.2642G>A",
"hgvs_p": null,
"transcript": "ENST00000693236.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000693236.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPF",
"gene_hgnc_id": 24291,
"hgvs_c": "n.*1279G>A",
"hgvs_p": null,
"transcript": "ENST00000688634.1",
"protein_id": "ENSP00000509339.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000688634.1"
}
],
"gene_symbol": "CHPF",
"gene_hgnc_id": 24291,
"dbsnp": "rs149014949",
"frequency_reference_population": 0.00008551277,
"hom_count_reference_population": 1,
"allele_count_reference_population": 138,
"gnomad_exomes_af": 0.000082789,
"gnomad_genomes_af": 0.00011166,
"gnomad_exomes_ac": 121,
"gnomad_genomes_ac": 17,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.12116199731826782,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.189,
"revel_prediction": "Benign",
"alphamissense_score": 0.2134,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.001,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_024536.6",
"gene_symbol": "CHPF",
"hgnc_id": 24291,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2095G>A",
"hgvs_p": "p.Glu699Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}