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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: 11-111308243-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=111308243&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 111308243,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001271458.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU2AF3",
"gene_hgnc_id": 26978,
"hgvs_c": "c.562G>T",
"hgvs_p": "p.Ala188Ser",
"transcript": "NM_001271458.2",
"protein_id": "NP_001258387.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 251,
"cds_start": 562,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000610738.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271458.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU2AF3",
"gene_hgnc_id": 26978,
"hgvs_c": "c.562G>T",
"hgvs_p": "p.Ala188Ser",
"transcript": "ENST00000610738.6",
"protein_id": "ENSP00000484135.1",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 251,
"cds_start": 562,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001271458.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610738.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU2AF3",
"gene_hgnc_id": 26978,
"hgvs_c": "c.667G>T",
"hgvs_p": "p.Ala223Ser",
"transcript": "ENST00000638573.1",
"protein_id": "ENSP00000492570.1",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 286,
"cds_start": 667,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638573.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU2AF3",
"gene_hgnc_id": 26978,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Ala91Ser",
"transcript": "ENST00000398035.6",
"protein_id": "ENSP00000381115.2",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 154,
"cds_start": 271,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398035.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU2AF3",
"gene_hgnc_id": 26978,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Ala91Ser",
"transcript": "ENST00000526216.1",
"protein_id": "ENSP00000434519.1",
"transcript_support_level": 1,
"aa_start": 91,
"aa_end": null,
"aa_length": 154,
"cds_start": 271,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526216.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU2AF3",
"gene_hgnc_id": 26978,
"hgvs_c": "n.*392G>T",
"hgvs_p": null,
"transcript": "ENST00000639470.1",
"protein_id": "ENSP00000492182.1",
"transcript_support_level": 1,
"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": "ENST00000639470.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU2AF3",
"gene_hgnc_id": 26978,
"hgvs_c": "n.*392G>T",
"hgvs_p": null,
"transcript": "ENST00000639470.1",
"protein_id": "ENSP00000492182.1",
"transcript_support_level": 1,
"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": "ENST00000639470.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU2AF3",
"gene_hgnc_id": 26978,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Ala91Ser",
"transcript": "NM_001136105.3",
"protein_id": "NP_001129577.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 154,
"cds_start": 271,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136105.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU2AF3",
"gene_hgnc_id": 26978,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Ala91Ser",
"transcript": "NM_001271457.2",
"protein_id": "NP_001258386.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 154,
"cds_start": 271,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271457.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU2AF3",
"gene_hgnc_id": 26978,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Ala91Ser",
"transcript": "NM_001370484.1",
"protein_id": "NP_001357413.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 154,
"cds_start": 271,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370484.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU2AF3",
"gene_hgnc_id": 26978,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Ala91Ser",
"transcript": "ENST00000614153.4",
"protein_id": "ENSP00000481028.2",
"transcript_support_level": 3,
"aa_start": 91,
"aa_end": null,
"aa_length": 154,
"cds_start": 271,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614153.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU2AF3",
"gene_hgnc_id": 26978,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Ala91Ser",
"transcript": "ENST00000528846.5",
"protein_id": "ENSP00000434938.1",
"transcript_support_level": 3,
"aa_start": 91,
"aa_end": null,
"aa_length": 105,
"cds_start": 271,
"cds_end": null,
"cds_length": 320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528846.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU2AF3",
"gene_hgnc_id": 26978,
"hgvs_c": "c.613G>T",
"hgvs_p": "p.Ala205Ser",
"transcript": "XM_017017196.3",
"protein_id": "XP_016872685.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 268,
"cds_start": 613,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017196.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU2AF3",
"gene_hgnc_id": 26978,
"hgvs_c": "c.466G>T",
"hgvs_p": "p.Ala156Ser",
"transcript": "XM_017017197.2",
"protein_id": "XP_016872686.2",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 219,
"cds_start": 466,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017197.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU2AF3",
"gene_hgnc_id": 26978,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Ala91Ser",
"transcript": "XM_017017199.2",
"protein_id": "XP_016872688.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 154,
"cds_start": 271,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017199.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU2AF3",
"gene_hgnc_id": 26978,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Ala91Ser",
"transcript": "XM_017017200.2",
"protein_id": "XP_016872689.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 154,
"cds_start": 271,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017200.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU2AF3",
"gene_hgnc_id": 26978,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Ala91Ser",
"transcript": "XM_047426364.1",
"protein_id": "XP_047282320.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 154,
"cds_start": 271,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426364.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POU2AF3",
"gene_hgnc_id": 26978,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Ala91Ser",
"transcript": "XM_047426365.1",
"protein_id": "XP_047282321.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 154,
"cds_start": 271,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426365.1"
}
],
"gene_symbol": "POU2AF3",
"gene_hgnc_id": 26978,
"dbsnp": "rs776644128",
"frequency_reference_population": 0.000019336725,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000164344,
"gnomad_genomes_af": 0.000046069,
"gnomad_exomes_ac": 23,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04520207643508911,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.058,
"revel_prediction": "Benign",
"alphamissense_score": 0.0788,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.63,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001271458.2",
"gene_symbol": "POU2AF3",
"hgnc_id": 26978,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.562G>T",
"hgvs_p": "p.Ala188Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}