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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: 22-39101399-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=39101399&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 39101399,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000442487.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOBEC3H",
"gene_hgnc_id": 24100,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Gly105Ser",
"transcript": "NM_181773.5",
"protein_id": "NP_861438.3",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 183,
"cds_start": 313,
"cds_end": null,
"cds_length": 552,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 1029,
"mane_select": "ENST00000442487.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOBEC3H",
"gene_hgnc_id": 24100,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Gly105Ser",
"transcript": "ENST00000442487.8",
"protein_id": "ENSP00000411754.3",
"transcript_support_level": 3,
"aa_start": 105,
"aa_end": null,
"aa_length": 183,
"cds_start": 313,
"cds_end": null,
"cds_length": 552,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 1029,
"mane_select": "NM_181773.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOBEC3H",
"gene_hgnc_id": 24100,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Gly105Ser",
"transcript": "ENST00000348946.8",
"protein_id": "ENSP00000216123.5",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 182,
"cds_start": 313,
"cds_end": null,
"cds_length": 549,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 1046,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOBEC3H",
"gene_hgnc_id": 24100,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Gly105Ser",
"transcript": "ENST00000613996.1",
"protein_id": "ENSP00000482682.1",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 154,
"cds_start": 313,
"cds_end": null,
"cds_length": 465,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOBEC3H",
"gene_hgnc_id": 24100,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Gly105Ser",
"transcript": "NM_001166003.3",
"protein_id": "NP_001159475.2",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 200,
"cds_start": 313,
"cds_end": null,
"cds_length": 603,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 1123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOBEC3H",
"gene_hgnc_id": 24100,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Gly105Ser",
"transcript": "ENST00000401756.5",
"protein_id": "ENSP00000385741.1",
"transcript_support_level": 3,
"aa_start": 105,
"aa_end": null,
"aa_length": 200,
"cds_start": 313,
"cds_end": null,
"cds_length": 603,
"cdna_start": 389,
"cdna_end": null,
"cdna_length": 1023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOBEC3H",
"gene_hgnc_id": 24100,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Gly105Ser",
"transcript": "ENST00000613677.4",
"protein_id": "ENSP00000483689.1",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 200,
"cds_start": 313,
"cds_end": null,
"cds_length": 603,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOBEC3H",
"gene_hgnc_id": 24100,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Gly105Ser",
"transcript": "NM_001166002.3",
"protein_id": "NP_001159474.2",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 182,
"cds_start": 313,
"cds_end": null,
"cds_length": 549,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 1026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOBEC3H",
"gene_hgnc_id": 24100,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Gly105Ser",
"transcript": "NM_001166004.3",
"protein_id": "NP_001159476.2",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 154,
"cds_start": 313,
"cds_end": null,
"cds_length": 465,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOBEC3H",
"gene_hgnc_id": 24100,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Gly105Ser",
"transcript": "ENST00000421988.6",
"protein_id": "ENSP00000393520.2",
"transcript_support_level": 5,
"aa_start": 105,
"aa_end": null,
"aa_length": 154,
"cds_start": 313,
"cds_end": null,
"cds_length": 465,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 592,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOBEC3H",
"gene_hgnc_id": 24100,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Gly105Ser",
"transcript": "XM_011529990.3",
"protein_id": "XP_011528292.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 203,
"cds_start": 313,
"cds_end": null,
"cds_length": 612,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 1145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOBEC3H",
"gene_hgnc_id": 24100,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Gly105Ser",
"transcript": "XM_011529991.4",
"protein_id": "XP_011528293.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 203,
"cds_start": 313,
"cds_end": null,
"cds_length": 612,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 1142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APOBEC3H",
"gene_hgnc_id": 24100,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Gly105Ser",
"transcript": "XM_011529992.4",
"protein_id": "XP_011528294.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 200,
"cds_start": 313,
"cds_end": null,
"cds_length": 603,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 1120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "APOBEC3H",
"gene_hgnc_id": 24100,
"dbsnp": "rs139297",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07257208228111267,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.052,
"revel_prediction": "Benign",
"alphamissense_score": 0.1215,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.649,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000442487.8",
"gene_symbol": "APOBEC3H",
"hgnc_id": 24100,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Gly105Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}