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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: 8-33597460-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=33597460&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 33597460,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024025.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP26",
"gene_hgnc_id": 28161,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Arg19Leu",
"transcript": "NM_024025.3",
"protein_id": "NP_076930.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 211,
"cds_start": 56,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000256261.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024025.3"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP26",
"gene_hgnc_id": 28161,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Arg19Leu",
"transcript": "ENST00000256261.9",
"protein_id": "ENSP00000256261.4",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 211,
"cds_start": 56,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024025.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256261.9"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP26",
"gene_hgnc_id": 28161,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Arg19Leu",
"transcript": "NM_001305115.2",
"protein_id": "NP_001292044.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 211,
"cds_start": 56,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305115.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP26",
"gene_hgnc_id": 28161,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Arg19Leu",
"transcript": "NM_001305116.2",
"protein_id": "NP_001292045.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 211,
"cds_start": 56,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001305116.2"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP26",
"gene_hgnc_id": 28161,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Arg19Leu",
"transcript": "ENST00000523956.1",
"protein_id": "ENSP00000429176.1",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 211,
"cds_start": 56,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523956.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP26",
"gene_hgnc_id": 28161,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Arg19Leu",
"transcript": "ENST00000854271.1",
"protein_id": "ENSP00000524330.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 211,
"cds_start": 56,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854271.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP26",
"gene_hgnc_id": 28161,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Arg19Leu",
"transcript": "ENST00000854272.1",
"protein_id": "ENSP00000524331.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 211,
"cds_start": 56,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854272.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP26",
"gene_hgnc_id": 28161,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Arg19Leu",
"transcript": "ENST00000854273.1",
"protein_id": "ENSP00000524332.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 211,
"cds_start": 56,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854273.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP26",
"gene_hgnc_id": 28161,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Arg19Leu",
"transcript": "ENST00000854274.1",
"protein_id": "ENSP00000524333.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 211,
"cds_start": 56,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854274.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP26",
"gene_hgnc_id": 28161,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Arg19Leu",
"transcript": "ENST00000854275.1",
"protein_id": "ENSP00000524334.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 211,
"cds_start": 56,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854275.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP26",
"gene_hgnc_id": 28161,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Arg19Leu",
"transcript": "ENST00000854276.1",
"protein_id": "ENSP00000524335.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 211,
"cds_start": 56,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854276.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP26",
"gene_hgnc_id": 28161,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Arg19Leu",
"transcript": "ENST00000854277.1",
"protein_id": "ENSP00000524336.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 211,
"cds_start": 56,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854277.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP26",
"gene_hgnc_id": 28161,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Arg19Leu",
"transcript": "ENST00000963993.1",
"protein_id": "ENSP00000634052.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 211,
"cds_start": 56,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963993.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP26",
"gene_hgnc_id": 28161,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Arg19Leu",
"transcript": "ENST00000963994.1",
"protein_id": "ENSP00000634053.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 188,
"cds_start": 56,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963994.1"
},
{
"aa_ref": "R",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DUSP26",
"gene_hgnc_id": 28161,
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Arg19Leu",
"transcript": "ENST00000522982.1",
"protein_id": "ENSP00000430922.1",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 144,
"cds_start": 56,
"cds_end": null,
"cds_length": 437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522982.1"
}
],
"gene_symbol": "DUSP26",
"gene_hgnc_id": 28161,
"dbsnp": "rs753004086",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.60094153881073,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.301,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4007,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.686,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.12,
"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_024025.3",
"gene_symbol": "DUSP26",
"hgnc_id": 28161,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.56G>T",
"hgvs_p": "p.Arg19Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}