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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: 1-22909025-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=22909025&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 22909025,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000374630.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB2",
"gene_hgnc_id": 3393,
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Gly786Arg",
"transcript": "NM_017449.5",
"protein_id": "NP_059145.2",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 986,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2500,
"cdna_end": null,
"cdna_length": 11035,
"mane_select": "ENST00000374630.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB2",
"gene_hgnc_id": 3393,
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Gly786Arg",
"transcript": "ENST00000374630.8",
"protein_id": "ENSP00000363761.3",
"transcript_support_level": 1,
"aa_start": 786,
"aa_end": null,
"aa_length": 986,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2961,
"cdna_start": 2500,
"cdna_end": null,
"cdna_length": 11035,
"mane_select": "NM_017449.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB2",
"gene_hgnc_id": 3393,
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Gly786Arg",
"transcript": "ENST00000400191.7",
"protein_id": "ENSP00000383053.3",
"transcript_support_level": 1,
"aa_start": 786,
"aa_end": null,
"aa_length": 1055,
"cds_start": 2356,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 2374,
"cdna_end": null,
"cdna_length": 10816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB2",
"gene_hgnc_id": 3393,
"hgvs_c": "c.2359G>A",
"hgvs_p": "p.Gly787Arg",
"transcript": "ENST00000374632.7",
"protein_id": "ENSP00000363763.3",
"transcript_support_level": 1,
"aa_start": 787,
"aa_end": null,
"aa_length": 987,
"cds_start": 2359,
"cds_end": null,
"cds_length": 2964,
"cdna_start": 2372,
"cdna_end": null,
"cdna_length": 3677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB2",
"gene_hgnc_id": 3393,
"hgvs_c": "c.2341G>A",
"hgvs_p": "p.Gly781Arg",
"transcript": "ENST00000374627.1",
"protein_id": "ENSP00000363758.1",
"transcript_support_level": 5,
"aa_start": 781,
"aa_end": null,
"aa_length": 946,
"cds_start": 2341,
"cds_end": null,
"cds_length": 2841,
"cdna_start": 2365,
"cdna_end": null,
"cdna_length": 4014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB2",
"gene_hgnc_id": 3393,
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Gly786Arg",
"transcript": "NM_001309193.2",
"protein_id": "NP_001296122.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 1055,
"cds_start": 2356,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 2500,
"cdna_end": null,
"cdna_length": 10942,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB2",
"gene_hgnc_id": 3393,
"hgvs_c": "c.2359G>A",
"hgvs_p": "p.Gly787Arg",
"transcript": "NM_004442.7",
"protein_id": "NP_004433.2",
"transcript_support_level": null,
"aa_start": 787,
"aa_end": null,
"aa_length": 987,
"cds_start": 2359,
"cds_end": null,
"cds_length": 2964,
"cdna_start": 2504,
"cdna_end": null,
"cdna_length": 11039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB2",
"gene_hgnc_id": 3393,
"hgvs_c": "c.2182G>A",
"hgvs_p": "p.Gly728Arg",
"transcript": "NM_001309192.2",
"protein_id": "NP_001296121.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 928,
"cds_start": 2182,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 2326,
"cdna_end": null,
"cdna_length": 10861,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB2",
"gene_hgnc_id": 3393,
"hgvs_c": "c.2338G>A",
"hgvs_p": "p.Gly780Arg",
"transcript": "XM_006710441.5",
"protein_id": "XP_006710504.1",
"transcript_support_level": null,
"aa_start": 780,
"aa_end": null,
"aa_length": 980,
"cds_start": 2338,
"cds_end": null,
"cds_length": 2943,
"cdna_start": 2629,
"cdna_end": null,
"cdna_length": 11164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB2",
"gene_hgnc_id": 3393,
"hgvs_c": "c.2266G>A",
"hgvs_p": "p.Gly756Arg",
"transcript": "XM_006710442.5",
"protein_id": "XP_006710505.1",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 956,
"cds_start": 2266,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 2411,
"cdna_end": null,
"cdna_length": 10946,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPHB2",
"gene_hgnc_id": 3393,
"hgvs_c": "c.2263G>A",
"hgvs_p": "p.Gly755Arg",
"transcript": "XM_047449104.1",
"protein_id": "XP_047305060.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 955,
"cds_start": 2263,
"cds_end": null,
"cds_length": 2868,
"cdna_start": 2408,
"cdna_end": null,
"cdna_length": 10943,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EPHB2",
"gene_hgnc_id": 3393,
"dbsnp": "rs138551214",
"frequency_reference_population": 0.000016108308,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000150493,
"gnomad_genomes_af": 0.0000262791,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9051843285560608,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.3100000023841858,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.617,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9932,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.002,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.31,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000374630.8",
"gene_symbol": "EPHB2",
"hgnc_id": 3393,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2356G>A",
"hgvs_p": "p.Gly786Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}