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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: 22-30578841-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30578841&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 30578841,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000354694.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.1679G>A",
"hgvs_p": "p.Arg560Gln",
"transcript": "NM_014303.4",
"protein_id": "NP_055118.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 588,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1756,
"cdna_end": null,
"cdna_length": 2265,
"mane_select": "ENST00000354694.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.1679G>A",
"hgvs_p": "p.Arg560Gln",
"transcript": "ENST00000354694.12",
"protein_id": "ENSP00000346725.6",
"transcript_support_level": 1,
"aa_start": 560,
"aa_end": null,
"aa_length": 588,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1756,
"cdna_end": null,
"cdna_length": 2265,
"mane_select": "NM_014303.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.1664G>A",
"hgvs_p": "p.Arg555Gln",
"transcript": "ENST00000335214.8",
"protein_id": "ENSP00000334612.6",
"transcript_support_level": 1,
"aa_start": 555,
"aa_end": null,
"aa_length": 583,
"cds_start": 1664,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 1988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.1664G>A",
"hgvs_p": "p.Arg555Gln",
"transcript": "NM_001243225.2",
"protein_id": "NP_001230154.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 583,
"cds_start": 1664,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1741,
"cdna_end": null,
"cdna_length": 2250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.1628G>A",
"hgvs_p": "p.Arg543Gln",
"transcript": "ENST00000402284.7",
"protein_id": "ENSP00000384252.3",
"transcript_support_level": 5,
"aa_start": 543,
"aa_end": null,
"aa_length": 571,
"cds_start": 1628,
"cds_end": null,
"cds_length": 1716,
"cdna_start": 1675,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Gln",
"transcript": "NM_001282327.1",
"protein_id": "NP_001269256.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 449,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 2184,
"cdna_end": null,
"cdna_length": 2693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Gln",
"transcript": "NM_001282328.1",
"protein_id": "NP_001269257.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 449,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 2231,
"cdna_end": null,
"cdna_length": 2740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Gln",
"transcript": "ENST00000402281.5",
"protein_id": "ENSP00000384366.1",
"transcript_support_level": 2,
"aa_start": 421,
"aa_end": null,
"aa_length": 449,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 2254,
"cdna_end": null,
"cdna_length": 2760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.1262G>A",
"hgvs_p": "p.Arg421Gln",
"transcript": "ENST00000405677.5",
"protein_id": "ENSP00000385654.1",
"transcript_support_level": 2,
"aa_start": 421,
"aa_end": null,
"aa_length": 449,
"cds_start": 1262,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 2206,
"cdna_end": null,
"cdna_length": 2708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.494G>A",
"hgvs_p": "p.Arg165Gln",
"transcript": "ENST00000441668.5",
"protein_id": "ENSP00000404234.1",
"transcript_support_level": 3,
"aa_start": 165,
"aa_end": null,
"aa_length": 193,
"cds_start": 494,
"cds_end": null,
"cds_length": 582,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "n.1234G>A",
"hgvs_p": null,
"transcript": "ENST00000488719.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 1732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"dbsnp": "rs754908238",
"frequency_reference_population": 0.00004031968,
"hom_count_reference_population": 0,
"allele_count_reference_population": 65,
"gnomad_exomes_af": 0.0000404143,
"gnomad_genomes_af": 0.0000394125,
"gnomad_exomes_ac": 59,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.33986377716064453,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.154,
"revel_prediction": "Benign",
"alphamissense_score": 0.3281,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.667,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000354694.12",
"gene_symbol": "PES1",
"hgnc_id": 8848,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1679G>A",
"hgvs_p": "p.Arg560Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}