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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: X-24846875-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=24846875&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 24846875,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000379068.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "POLA1",
"gene_hgnc_id": 9173,
"hgvs_c": "c.4047+3198G>A",
"hgvs_p": null,
"transcript": "NM_001330360.2",
"protein_id": "NP_001317289.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1468,
"cds_start": -4,
"cds_end": null,
"cds_length": 4407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5487,
"mane_select": "ENST00000379068.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "POLA1",
"gene_hgnc_id": 9173,
"hgvs_c": "c.4047+3198G>A",
"hgvs_p": null,
"transcript": "ENST00000379068.8",
"protein_id": "ENSP00000368358.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1468,
"cds_start": -4,
"cds_end": null,
"cds_length": 4407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5487,
"mane_select": "NM_001330360.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "POLA1",
"gene_hgnc_id": 9173,
"hgvs_c": "c.4029+3198G>A",
"hgvs_p": null,
"transcript": "ENST00000379059.7",
"protein_id": "ENSP00000368349.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": -4,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5440,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLA1",
"gene_hgnc_id": 9173,
"hgvs_c": "c.*1002G>A",
"hgvs_p": null,
"transcript": "XM_011545540.4",
"protein_id": "XP_011543842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1350,
"cds_start": -4,
"cds_end": null,
"cds_length": 4053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLA1",
"gene_hgnc_id": 9173,
"hgvs_c": "c.*1002G>A",
"hgvs_p": null,
"transcript": "XM_047442180.1",
"protein_id": "XP_047298136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1344,
"cds_start": -4,
"cds_end": null,
"cds_length": 4035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "POLA1",
"gene_hgnc_id": 9173,
"hgvs_c": "c.4047+3198G>A",
"hgvs_p": null,
"transcript": "NM_001440806.1",
"protein_id": "NP_001427735.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1489,
"cds_start": -4,
"cds_end": null,
"cds_length": 4470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "POLA1",
"gene_hgnc_id": 9173,
"hgvs_c": "c.4029+3198G>A",
"hgvs_p": null,
"transcript": "NM_016937.4",
"protein_id": "NP_058633.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1462,
"cds_start": -4,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "POLA1",
"gene_hgnc_id": 9173,
"hgvs_c": "c.3972+3198G>A",
"hgvs_p": null,
"transcript": "NM_001378303.1",
"protein_id": "NP_001365232.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1443,
"cds_start": -4,
"cds_end": null,
"cds_length": 4332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "POLA1",
"gene_hgnc_id": 9173,
"hgvs_c": "n.4377+3198G>A",
"hgvs_p": null,
"transcript": "ENST00000611764.2",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "POLA1",
"gene_hgnc_id": 9173,
"hgvs_c": "n.*3478+3198G>A",
"hgvs_p": null,
"transcript": "ENST00000672178.1",
"protein_id": "ENSP00000500742.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "POLA1",
"gene_hgnc_id": 9173,
"hgvs_c": "n.1304+3198G>A",
"hgvs_p": null,
"transcript": "ENST00000679301.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "POLA1",
"gene_hgnc_id": 9173,
"hgvs_c": "n.3813+3198G>A",
"hgvs_p": null,
"transcript": "NR_165482.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "POLA1",
"gene_hgnc_id": 9173,
"hgvs_c": "n.3915+3198G>A",
"hgvs_p": null,
"transcript": "NR_165483.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "POLA1",
"gene_hgnc_id": 9173,
"hgvs_c": "c.4047+3198G>A",
"hgvs_p": null,
"transcript": "XM_017029594.3",
"protein_id": "XP_016885083.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1443,
"cds_start": -4,
"cds_end": null,
"cds_length": 4332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "POLA1",
"gene_hgnc_id": 9173,
"hgvs_c": "c.4047+3198G>A",
"hgvs_p": null,
"transcript": "XM_017029595.3",
"protein_id": "XP_016885084.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1432,
"cds_start": -4,
"cds_end": null,
"cds_length": 4299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 16938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "POLA1",
"gene_hgnc_id": 9173,
"hgvs_c": "c.4047+3198G>A",
"hgvs_p": null,
"transcript": "XM_017029596.2",
"protein_id": "XP_016885085.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1353,
"cds_start": -4,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
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"cdna_length": 6781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "POLA1",
"gene_hgnc_id": 9173,
"hgvs_c": "c.3621+3198G>A",
"hgvs_p": null,
"transcript": "XM_047442181.1",
"protein_id": "XP_047298137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1326,
"cds_start": -4,
"cds_end": null,
"cds_length": 3981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5278,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "POLA1",
"gene_hgnc_id": 9173,
"hgvs_c": "c.3621+3198G>A",
"hgvs_p": null,
"transcript": "XM_047442182.1",
"protein_id": "XP_047298138.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1326,
"cds_start": -4,
"cds_end": null,
"cds_length": 3981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POLA1",
"gene_hgnc_id": 9173,
"dbsnp": "rs11573440",
"frequency_reference_population": 0.00002676182,
"hom_count_reference_population": 1,
"allele_count_reference_population": 3,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0000267618,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3199999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.967,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BS1",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "ENST00000379068.8",
"gene_symbol": "POLA1",
"hgnc_id": 9173,
"effects": [
"intron_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.4047+3198G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}