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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: 22-30580691-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=30580691&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 30580691,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014303.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.923C>T",
"hgvs_p": "p.Ala308Val",
"transcript": "NM_014303.4",
"protein_id": "NP_055118.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 588,
"cds_start": 923,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354694.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014303.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.923C>T",
"hgvs_p": "p.Ala308Val",
"transcript": "ENST00000354694.12",
"protein_id": "ENSP00000346725.6",
"transcript_support_level": 1,
"aa_start": 308,
"aa_end": null,
"aa_length": 588,
"cds_start": 923,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014303.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354694.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.913-5C>T",
"hgvs_p": null,
"transcript": "ENST00000335214.8",
"protein_id": "ENSP00000334612.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": null,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335214.8"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.920C>T",
"hgvs_p": "p.Ala307Val",
"transcript": "ENST00000898784.1",
"protein_id": "ENSP00000568843.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 587,
"cds_start": 920,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898784.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.923C>T",
"hgvs_p": "p.Ala308Val",
"transcript": "ENST00000934360.1",
"protein_id": "ENSP00000604419.1",
"transcript_support_level": null,
"aa_start": 308,
"aa_end": null,
"aa_length": 587,
"cds_start": 923,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934360.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.920C>T",
"hgvs_p": "p.Ala307Val",
"transcript": "ENST00000944364.1",
"protein_id": "ENSP00000614423.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 586,
"cds_start": 920,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944364.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.872C>T",
"hgvs_p": "p.Ala291Val",
"transcript": "ENST00000402284.7",
"protein_id": "ENSP00000384252.3",
"transcript_support_level": 5,
"aa_start": 291,
"aa_end": null,
"aa_length": 571,
"cds_start": 872,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402284.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.833C>T",
"hgvs_p": "p.Ala278Val",
"transcript": "ENST00000898786.1",
"protein_id": "ENSP00000568845.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 558,
"cds_start": 833,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898786.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "NM_001282327.1",
"protein_id": "NP_001269256.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 449,
"cds_start": 506,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282327.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "NM_001282328.1",
"protein_id": "NP_001269257.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 449,
"cds_start": 506,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282328.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "ENST00000402281.5",
"protein_id": "ENSP00000384366.1",
"transcript_support_level": 2,
"aa_start": 169,
"aa_end": null,
"aa_length": 449,
"cds_start": 506,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402281.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.506C>T",
"hgvs_p": "p.Ala169Val",
"transcript": "ENST00000405677.5",
"protein_id": "ENSP00000385654.1",
"transcript_support_level": 2,
"aa_start": 169,
"aa_end": null,
"aa_length": 449,
"cds_start": 506,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405677.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.931-5C>T",
"hgvs_p": null,
"transcript": "ENST00000898785.1",
"protein_id": "ENSP00000568844.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 589,
"cds_start": null,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898785.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.913-5C>T",
"hgvs_p": null,
"transcript": "NM_001243225.2",
"protein_id": "NP_001230154.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": null,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243225.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.913-8C>T",
"hgvs_p": null,
"transcript": "ENST00000944365.1",
"protein_id": "ENSP00000614424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 582,
"cds_start": null,
"cds_end": null,
"cds_length": 1749,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944365.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"hgvs_c": "c.862-5C>T",
"hgvs_p": null,
"transcript": "ENST00000934359.1",
"protein_id": "ENSP00000604418.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 566,
"cds_start": null,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934359.1"
}
],
"gene_symbol": "PES1",
"gene_hgnc_id": 8848,
"dbsnp": "rs149639037",
"frequency_reference_population": 0.000070047114,
"hom_count_reference_population": 1,
"allele_count_reference_population": 113,
"gnomad_exomes_af": 0.0000684482,
"gnomad_genomes_af": 0.0000853904,
"gnomad_exomes_ac": 100,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.024474233388900757,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.25,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.032,
"revel_prediction": "Benign",
"alphamissense_score": 0.0691,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.74,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.209,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.25,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_014303.4",
"gene_symbol": "PES1",
"hgnc_id": 8848,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.923C>T",
"hgvs_p": "p.Ala308Val"
}
],
"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
}