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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: 14-31293453-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=31293453&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 31293453,
"ref": "A",
"alt": "C",
"effect": "stop_gained",
"transcript": "NM_015473.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5A",
"gene_hgnc_id": 20276,
"hgvs_c": "c.5993T>G",
"hgvs_p": "p.Leu1998*",
"transcript": "NM_015473.4",
"protein_id": "NP_056288.2",
"transcript_support_level": null,
"aa_start": 1998,
"aa_end": null,
"aa_length": 2046,
"cds_start": 5993,
"cds_end": null,
"cds_length": 6141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000543095.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015473.4"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5A",
"gene_hgnc_id": 20276,
"hgvs_c": "c.5993T>G",
"hgvs_p": "p.Leu1998*",
"transcript": "ENST00000543095.7",
"protein_id": "ENSP00000437968.2",
"transcript_support_level": 5,
"aa_start": 1998,
"aa_end": null,
"aa_length": 2046,
"cds_start": 5993,
"cds_end": null,
"cds_length": 6141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015473.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543095.7"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5A",
"gene_hgnc_id": 20276,
"hgvs_c": "c.6059T>G",
"hgvs_p": "p.Leu2020*",
"transcript": "ENST00000925437.1",
"protein_id": "ENSP00000595496.1",
"transcript_support_level": null,
"aa_start": 2020,
"aa_end": null,
"aa_length": 2068,
"cds_start": 6059,
"cds_end": null,
"cds_length": 6207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925437.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5A",
"gene_hgnc_id": 20276,
"hgvs_c": "c.5990T>G",
"hgvs_p": "p.Leu1997*",
"transcript": "ENST00000892404.1",
"protein_id": "ENSP00000562463.1",
"transcript_support_level": null,
"aa_start": 1997,
"aa_end": null,
"aa_length": 2045,
"cds_start": 5990,
"cds_end": null,
"cds_length": 6138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892404.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5A",
"gene_hgnc_id": 20276,
"hgvs_c": "c.5924T>G",
"hgvs_p": "p.Leu1975*",
"transcript": "ENST00000925433.1",
"protein_id": "ENSP00000595492.1",
"transcript_support_level": null,
"aa_start": 1975,
"aa_end": null,
"aa_length": 2023,
"cds_start": 5924,
"cds_end": null,
"cds_length": 6072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925433.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5A",
"gene_hgnc_id": 20276,
"hgvs_c": "c.5825T>G",
"hgvs_p": "p.Leu1942*",
"transcript": "ENST00000925434.1",
"protein_id": "ENSP00000595493.1",
"transcript_support_level": null,
"aa_start": 1942,
"aa_end": null,
"aa_length": 1990,
"cds_start": 5825,
"cds_end": null,
"cds_length": 5973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925434.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5A",
"gene_hgnc_id": 20276,
"hgvs_c": "c.5813T>G",
"hgvs_p": "p.Leu1938*",
"transcript": "ENST00000925435.1",
"protein_id": "ENSP00000595494.1",
"transcript_support_level": null,
"aa_start": 1938,
"aa_end": null,
"aa_length": 1986,
"cds_start": 5813,
"cds_end": null,
"cds_length": 5961,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925435.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5A",
"gene_hgnc_id": 20276,
"hgvs_c": "c.5792T>G",
"hgvs_p": "p.Leu1931*",
"transcript": "ENST00000892408.1",
"protein_id": "ENSP00000562467.1",
"transcript_support_level": null,
"aa_start": 1931,
"aa_end": null,
"aa_length": 1979,
"cds_start": 5792,
"cds_end": null,
"cds_length": 5940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892408.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5A",
"gene_hgnc_id": 20276,
"hgvs_c": "c.5753T>G",
"hgvs_p": "p.Leu1918*",
"transcript": "ENST00000892406.1",
"protein_id": "ENSP00000562465.1",
"transcript_support_level": null,
"aa_start": 1918,
"aa_end": null,
"aa_length": 1966,
"cds_start": 5753,
"cds_end": null,
"cds_length": 5901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892406.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5A",
"gene_hgnc_id": 20276,
"hgvs_c": "c.5744T>G",
"hgvs_p": "p.Leu1915*",
"transcript": "ENST00000892405.1",
"protein_id": "ENSP00000562464.1",
"transcript_support_level": null,
"aa_start": 1915,
"aa_end": null,
"aa_length": 1963,
"cds_start": 5744,
"cds_end": null,
"cds_length": 5892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892405.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5A",
"gene_hgnc_id": 20276,
"hgvs_c": "c.5720T>G",
"hgvs_p": "p.Leu1907*",
"transcript": "ENST00000925436.1",
"protein_id": "ENSP00000595495.1",
"transcript_support_level": null,
"aa_start": 1907,
"aa_end": null,
"aa_length": 1955,
"cds_start": 5720,
"cds_end": null,
"cds_length": 5868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925436.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5A",
"gene_hgnc_id": 20276,
"hgvs_c": "c.5495T>G",
"hgvs_p": "p.Leu1832*",
"transcript": "ENST00000892407.1",
"protein_id": "ENSP00000562466.1",
"transcript_support_level": null,
"aa_start": 1832,
"aa_end": null,
"aa_length": 1880,
"cds_start": 5495,
"cds_end": null,
"cds_length": 5643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892407.1"
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5A",
"gene_hgnc_id": 20276,
"hgvs_c": "c.4649T>G",
"hgvs_p": "p.Leu1550*",
"transcript": "ENST00000538864.6",
"protein_id": "ENSP00000439979.2",
"transcript_support_level": 5,
"aa_start": 1550,
"aa_end": null,
"aa_length": 1598,
"cds_start": 4649,
"cds_end": null,
"cds_length": 4797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538864.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HEATR5A",
"gene_hgnc_id": 20276,
"hgvs_c": "n.2186T>G",
"hgvs_p": null,
"transcript": "ENST00000551414.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000551414.1"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257831",
"gene_hgnc_id": null,
"hgvs_c": "n.401-1979A>C",
"hgvs_p": null,
"transcript": "ENST00000551799.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000551799.1"
}
],
"gene_symbol": "HEATR5A",
"gene_hgnc_id": 20276,
"dbsnp": "rs1595067466",
"frequency_reference_population": 0.000001368296,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.0000013683,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5899999737739563,
"computational_prediction_selected": "Pathogenic",
"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": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.202,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015473.4",
"gene_symbol": "HEATR5A",
"hgnc_id": 20276,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5993T>G",
"hgvs_p": "p.Leu1998*"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000551799.1",
"gene_symbol": "ENSG00000257831",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.401-1979A>C",
"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
}