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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: 6-43614198-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43614198&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 43614198,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000372236.9",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLH",
"gene_hgnc_id": 9181,
"hgvs_c": "c.1783A>T",
"hgvs_p": "p.Met595Leu",
"transcript": "NM_006502.3",
"protein_id": "NP_006493.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 713,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2043,
"cdna_end": null,
"cdna_length": 8368,
"mane_select": "ENST00000372236.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLH",
"gene_hgnc_id": 9181,
"hgvs_c": "c.1783A>T",
"hgvs_p": "p.Met595Leu",
"transcript": "ENST00000372236.9",
"protein_id": "ENSP00000361310.4",
"transcript_support_level": 1,
"aa_start": 595,
"aa_end": null,
"aa_length": 713,
"cds_start": 1783,
"cds_end": null,
"cds_length": 2142,
"cdna_start": 2043,
"cdna_end": null,
"cdna_length": 8368,
"mane_select": "NM_006502.3",
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLH",
"gene_hgnc_id": 9181,
"hgvs_c": "c.*467A>T",
"hgvs_p": null,
"transcript": "ENST00000372226.1",
"protein_id": "ENSP00000361300.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": -4,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLH",
"gene_hgnc_id": 9181,
"hgvs_c": "c.1411A>T",
"hgvs_p": "p.Met471Leu",
"transcript": "NM_001291969.2",
"protein_id": "NP_001278898.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 589,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1684,
"cdna_end": null,
"cdna_length": 8009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLH",
"gene_hgnc_id": 9181,
"hgvs_c": "c.1327A>T",
"hgvs_p": "p.Met443Leu",
"transcript": "XM_047418900.1",
"protein_id": "XP_047274856.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 561,
"cds_start": 1327,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1676,
"cdna_end": null,
"cdna_length": 8001,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "POLH",
"gene_hgnc_id": 9181,
"hgvs_c": "c.*467A>T",
"hgvs_p": null,
"transcript": "NM_001291970.2",
"protein_id": "NP_001278899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": -4,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GTPBP2",
"gene_hgnc_id": 4670,
"hgvs_c": "n.*131+5921T>A",
"hgvs_p": null,
"transcript": "ENST00000496137.5",
"protein_id": "ENSP00000436973.1",
"transcript_support_level": 3,
"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": 516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "POLH",
"gene_hgnc_id": 9181,
"dbsnp": "rs9333555",
"frequency_reference_population": 6.844121e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84412e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.042023807764053345,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
"alphamissense_score": 0.093,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.645,
"phylop100way_prediction": "Benign",
"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": -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": "ENST00000372236.9",
"gene_symbol": "POLH",
"hgnc_id": 9181,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1783A>T",
"hgvs_p": "p.Met595Leu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000496137.5",
"gene_symbol": "GTPBP2",
"hgnc_id": 4670,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.*131+5921T>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
}