← Back to variant description
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: 19-49873070-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49873070&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49873070,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001098633.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.226C>A",
"hgvs_p": "p.Arg76Arg",
"transcript": "NM_001098633.4",
"protein_id": "NP_001092103.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 256,
"cds_start": 226,
"cds_end": null,
"cds_length": 771,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 1775,
"mane_select": "ENST00000344175.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.226C>A",
"hgvs_p": "p.Arg76Arg",
"transcript": "ENST00000344175.10",
"protein_id": "ENSP00000341698.5",
"transcript_support_level": 3,
"aa_start": 76,
"aa_end": null,
"aa_length": 256,
"cds_start": 226,
"cds_end": null,
"cds_length": 771,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 1775,
"mane_select": "NM_001098633.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.286C>A",
"hgvs_p": "p.Arg96Arg",
"transcript": "ENST00000391835.1",
"protein_id": "ENSP00000375711.1",
"transcript_support_level": 1,
"aa_start": 96,
"aa_end": null,
"aa_length": 276,
"cds_start": 286,
"cds_end": null,
"cds_length": 831,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 3075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.226C>A",
"hgvs_p": "p.Arg76Arg",
"transcript": "ENST00000391832.7",
"protein_id": "ENSP00000375708.3",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 256,
"cds_start": 226,
"cds_end": null,
"cds_length": 771,
"cdna_start": 488,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.286C>A",
"hgvs_p": "p.Arg96Arg",
"transcript": "NM_032375.5",
"protein_id": "NP_115751.3",
"transcript_support_level": null,
"aa_start": 96,
"aa_end": null,
"aa_length": 276,
"cds_start": 286,
"cds_end": null,
"cds_length": 831,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.226C>A",
"hgvs_p": "p.Arg76Arg",
"transcript": "NM_001098632.2",
"protein_id": "NP_001092102.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 256,
"cds_start": 226,
"cds_end": null,
"cds_length": 771,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.226C>A",
"hgvs_p": "p.Arg76Arg",
"transcript": "NM_001278159.2",
"protein_id": "NP_001265088.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 256,
"cds_start": 226,
"cds_end": null,
"cds_length": 771,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.226C>A",
"hgvs_p": "p.Arg76Arg",
"transcript": "NM_001278160.2",
"protein_id": "NP_001265089.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 256,
"cds_start": 226,
"cds_end": null,
"cds_length": 771,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 1843,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.226C>A",
"hgvs_p": "p.Arg76Arg",
"transcript": "ENST00000391831.5",
"protein_id": "ENSP00000375707.1",
"transcript_support_level": 2,
"aa_start": 76,
"aa_end": null,
"aa_length": 256,
"cds_start": 226,
"cds_end": null,
"cds_length": 771,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.226C>A",
"hgvs_p": "p.Arg76Arg",
"transcript": "ENST00000391833.5",
"protein_id": "ENSP00000375709.1",
"transcript_support_level": 2,
"aa_start": 76,
"aa_end": null,
"aa_length": 256,
"cds_start": 226,
"cds_end": null,
"cds_length": 771,
"cdna_start": 2216,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.226C>A",
"hgvs_p": "p.Arg76Arg",
"transcript": "ENST00000391834.6",
"protein_id": "ENSP00000375710.2",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 256,
"cds_start": 226,
"cds_end": null,
"cds_length": 771,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 1849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.226C>A",
"hgvs_p": "p.Arg76Arg",
"transcript": "ENST00000391830.1",
"protein_id": "ENSP00000375706.1",
"transcript_support_level": 2,
"aa_start": 76,
"aa_end": null,
"aa_length": 107,
"cds_start": 226,
"cds_end": null,
"cds_length": 326,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 623,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PNKP",
"gene_hgnc_id": 9154,
"hgvs_c": "n.182+5100C>A",
"hgvs_p": null,
"transcript": "ENST00000629179.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"hgvs_c": "c.*126C>A",
"hgvs_p": null,
"transcript": "ENST00000599525.1",
"protein_id": "ENSP00000472839.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 32,
"cds_start": -4,
"cds_end": null,
"cds_length": 100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AKT1S1",
"gene_hgnc_id": 28426,
"dbsnp": "rs746829615",
"frequency_reference_population": 0.0000014272482,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000142725,
"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": -0.75,
"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": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.099,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001098633.4",
"gene_symbol": "AKT1S1",
"hgnc_id": 28426,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.226C>A",
"hgvs_p": "p.Arg76Arg"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000629179.1",
"gene_symbol": "PNKP",
"hgnc_id": 9154,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "n.182+5100C>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
}