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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: 11-111308430-AT-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=111308430&ref=AT&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "POU2AF3",
"hgnc_id": 26978,
"hgvs_c": "c.749_750delATinsGC",
"hgvs_p": "p.Tyr250Cys",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001271458.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 251,
"aa_ref": "Y",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1090,
"cdna_start": 785,
"cds_end": null,
"cds_length": 756,
"cds_start": 749,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001271458.2",
"gene_hgnc_id": 26978,
"gene_symbol": "POU2AF3",
"hgvs_c": "c.749_750delATinsGC",
"hgvs_p": "p.Tyr250Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000610738.6",
"protein_coding": true,
"protein_id": "NP_001258387.1",
"strand": true,
"transcript": "NM_001271458.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 251,
"aa_ref": "Y",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1090,
"cdna_start": 785,
"cds_end": null,
"cds_length": 756,
"cds_start": 749,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000610738.6",
"gene_hgnc_id": 26978,
"gene_symbol": "POU2AF3",
"hgvs_c": "c.749_750delATinsGC",
"hgvs_p": "p.Tyr250Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001271458.2",
"protein_coding": true,
"protein_id": "ENSP00000484135.1",
"strand": true,
"transcript": "ENST00000610738.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 286,
"aa_ref": "Y",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1080,
"cdna_start": 881,
"cds_end": null,
"cds_length": 861,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000638573.1",
"gene_hgnc_id": 26978,
"gene_symbol": "POU2AF3",
"hgvs_c": "c.854_855delATinsGC",
"hgvs_p": "p.Tyr285Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492570.1",
"strand": true,
"transcript": "ENST00000638573.1",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 154,
"aa_ref": "Y",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1414,
"cdna_start": 1216,
"cds_end": null,
"cds_length": 465,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398035.6",
"gene_hgnc_id": 26978,
"gene_symbol": "POU2AF3",
"hgvs_c": "c.458_459delATinsGC",
"hgvs_p": "p.Tyr153Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381115.2",
"strand": true,
"transcript": "ENST00000398035.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 154,
"aa_ref": "Y",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1332,
"cdna_start": 1027,
"cds_end": null,
"cds_length": 465,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000526216.1",
"gene_hgnc_id": 26978,
"gene_symbol": "POU2AF3",
"hgvs_c": "c.458_459delATinsGC",
"hgvs_p": "p.Tyr153Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434519.1",
"strand": true,
"transcript": "ENST00000526216.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1207,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000639470.1",
"gene_hgnc_id": 26978,
"gene_symbol": "POU2AF3",
"hgvs_c": "n.*579_*580delATinsGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492182.1",
"strand": true,
"transcript": "ENST00000639470.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1207,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000639470.1",
"gene_hgnc_id": 26978,
"gene_symbol": "POU2AF3",
"hgvs_c": "n.*579_*580delATinsGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000492182.1",
"strand": true,
"transcript": "ENST00000639470.1",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 154,
"aa_ref": "Y",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1463,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 465,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001136105.3",
"gene_hgnc_id": 26978,
"gene_symbol": "POU2AF3",
"hgvs_c": "c.458_459delATinsGC",
"hgvs_p": "p.Tyr153Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129577.1",
"strand": true,
"transcript": "NM_001136105.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 154,
"aa_ref": "Y",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1182,
"cdna_start": 877,
"cds_end": null,
"cds_length": 465,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001271457.2",
"gene_hgnc_id": 26978,
"gene_symbol": "POU2AF3",
"hgvs_c": "c.458_459delATinsGC",
"hgvs_p": "p.Tyr153Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258386.1",
"strand": true,
"transcript": "NM_001271457.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 154,
"aa_ref": "Y",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1756,
"cdna_start": 1451,
"cds_end": null,
"cds_length": 465,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370484.1",
"gene_hgnc_id": 26978,
"gene_symbol": "POU2AF3",
"hgvs_c": "c.458_459delATinsGC",
"hgvs_p": "p.Tyr153Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357413.1",
"strand": true,
"transcript": "NM_001370484.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 154,
"aa_ref": "Y",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1264,
"cdna_start": 961,
"cds_end": null,
"cds_length": 465,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000614153.4",
"gene_hgnc_id": 26978,
"gene_symbol": "POU2AF3",
"hgvs_c": "c.458_459delATinsGC",
"hgvs_p": "p.Tyr153Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481028.2",
"strand": true,
"transcript": "ENST00000614153.4",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 268,
"aa_ref": "Y",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1141,
"cdna_start": 836,
"cds_end": null,
"cds_length": 807,
"cds_start": 800,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017017196.3",
"gene_hgnc_id": 26978,
"gene_symbol": "POU2AF3",
"hgvs_c": "c.800_801delATinsGC",
"hgvs_p": "p.Tyr267Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872685.1",
"strand": true,
"transcript": "XM_017017196.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 219,
"aa_ref": "Y",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1045,
"cdna_start": 740,
"cds_end": null,
"cds_length": 660,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017017197.2",
"gene_hgnc_id": 26978,
"gene_symbol": "POU2AF3",
"hgvs_c": "c.653_654delATinsGC",
"hgvs_p": "p.Tyr218Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872686.2",
"strand": true,
"transcript": "XM_017017197.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 154,
"aa_ref": "Y",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1082,
"cdna_start": 777,
"cds_end": null,
"cds_length": 465,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017017199.2",
"gene_hgnc_id": 26978,
"gene_symbol": "POU2AF3",
"hgvs_c": "c.458_459delATinsGC",
"hgvs_p": "p.Tyr153Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872688.1",
"strand": true,
"transcript": "XM_017017199.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 154,
"aa_ref": "Y",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1532,
"cdna_start": 1227,
"cds_end": null,
"cds_length": 465,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017017200.2",
"gene_hgnc_id": 26978,
"gene_symbol": "POU2AF3",
"hgvs_c": "c.458_459delATinsGC",
"hgvs_p": "p.Tyr153Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016872689.1",
"strand": true,
"transcript": "XM_017017200.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 154,
"aa_ref": "Y",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1442,
"cdna_start": 1137,
"cds_end": null,
"cds_length": 465,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047426364.1",
"gene_hgnc_id": 26978,
"gene_symbol": "POU2AF3",
"hgvs_c": "c.458_459delATinsGC",
"hgvs_p": "p.Tyr153Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282320.1",
"strand": true,
"transcript": "XM_047426364.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 154,
"aa_ref": "Y",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1163,
"cdna_start": 858,
"cds_end": null,
"cds_length": 465,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047426365.1",
"gene_hgnc_id": 26978,
"gene_symbol": "POU2AF3",
"hgvs_c": "c.458_459delATinsGC",
"hgvs_p": "p.Tyr153Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282321.1",
"strand": true,
"transcript": "XM_047426365.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 105,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 823,
"cdna_start": null,
"cds_end": null,
"cds_length": 320,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000528846.5",
"gene_hgnc_id": 26978,
"gene_symbol": "POU2AF3",
"hgvs_c": "c.*138_*139delATinsGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434938.1",
"strand": true,
"transcript": "ENST00000528846.5",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 26978,
"gene_symbol": "POU2AF3",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.402,
"pos": 111308430,
"ref": "AT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001271458.2"
}
]
}