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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: 14-31293423-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=31293423&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 31293423,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015473.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.6023G>T",
"hgvs_p": "p.Arg2008Leu",
"transcript": "NM_015473.4",
"protein_id": "NP_056288.2",
"transcript_support_level": null,
"aa_start": 2008,
"aa_end": null,
"aa_length": 2046,
"cds_start": 6023,
"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": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.6023G>T",
"hgvs_p": "p.Arg2008Leu",
"transcript": "ENST00000543095.7",
"protein_id": "ENSP00000437968.2",
"transcript_support_level": 5,
"aa_start": 2008,
"aa_end": null,
"aa_length": 2046,
"cds_start": 6023,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.6089G>T",
"hgvs_p": "p.Arg2030Leu",
"transcript": "ENST00000925437.1",
"protein_id": "ENSP00000595496.1",
"transcript_support_level": null,
"aa_start": 2030,
"aa_end": null,
"aa_length": 2068,
"cds_start": 6089,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.6020G>T",
"hgvs_p": "p.Arg2007Leu",
"transcript": "ENST00000892404.1",
"protein_id": "ENSP00000562463.1",
"transcript_support_level": null,
"aa_start": 2007,
"aa_end": null,
"aa_length": 2045,
"cds_start": 6020,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.5954G>T",
"hgvs_p": "p.Arg1985Leu",
"transcript": "ENST00000925433.1",
"protein_id": "ENSP00000595492.1",
"transcript_support_level": null,
"aa_start": 1985,
"aa_end": null,
"aa_length": 2023,
"cds_start": 5954,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.5855G>T",
"hgvs_p": "p.Arg1952Leu",
"transcript": "ENST00000925434.1",
"protein_id": "ENSP00000595493.1",
"transcript_support_level": null,
"aa_start": 1952,
"aa_end": null,
"aa_length": 1990,
"cds_start": 5855,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.5843G>T",
"hgvs_p": "p.Arg1948Leu",
"transcript": "ENST00000925435.1",
"protein_id": "ENSP00000595494.1",
"transcript_support_level": null,
"aa_start": 1948,
"aa_end": null,
"aa_length": 1986,
"cds_start": 5843,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.5822G>T",
"hgvs_p": "p.Arg1941Leu",
"transcript": "ENST00000892408.1",
"protein_id": "ENSP00000562467.1",
"transcript_support_level": null,
"aa_start": 1941,
"aa_end": null,
"aa_length": 1979,
"cds_start": 5822,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.5783G>T",
"hgvs_p": "p.Arg1928Leu",
"transcript": "ENST00000892406.1",
"protein_id": "ENSP00000562465.1",
"transcript_support_level": null,
"aa_start": 1928,
"aa_end": null,
"aa_length": 1966,
"cds_start": 5783,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.5774G>T",
"hgvs_p": "p.Arg1925Leu",
"transcript": "ENST00000892405.1",
"protein_id": "ENSP00000562464.1",
"transcript_support_level": null,
"aa_start": 1925,
"aa_end": null,
"aa_length": 1963,
"cds_start": 5774,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.5750G>T",
"hgvs_p": "p.Arg1917Leu",
"transcript": "ENST00000925436.1",
"protein_id": "ENSP00000595495.1",
"transcript_support_level": null,
"aa_start": 1917,
"aa_end": null,
"aa_length": 1955,
"cds_start": 5750,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.5525G>T",
"hgvs_p": "p.Arg1842Leu",
"transcript": "ENST00000892407.1",
"protein_id": "ENSP00000562466.1",
"transcript_support_level": null,
"aa_start": 1842,
"aa_end": null,
"aa_length": 1880,
"cds_start": 5525,
"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": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"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.4679G>T",
"hgvs_p": "p.Arg1560Leu",
"transcript": "ENST00000538864.6",
"protein_id": "ENSP00000439979.2",
"transcript_support_level": 5,
"aa_start": 1560,
"aa_end": null,
"aa_length": 1598,
"cds_start": 4679,
"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.2216G>T",
"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.401-2009C>A",
"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": "rs747281156",
"frequency_reference_population": 0.000009294982,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000957854,
"gnomad_genomes_af": 0.00000657142,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7873439788818359,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.519,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5127,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.943,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015473.4",
"gene_symbol": "HEATR5A",
"hgnc_id": 20276,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.6023G>T",
"hgvs_p": "p.Arg2008Leu"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000551799.1",
"gene_symbol": "ENSG00000257831",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.401-2009C>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
}