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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: 1-40260919-ACT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=40260919&ref=ACT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 40260919,
"ref": "ACT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_005857.5",
"consequences": [
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMPSTE24",
"gene_hgnc_id": 12877,
"hgvs_c": "c.207_208delCT",
"hgvs_p": "p.Tyr70fs",
"transcript": "NM_005857.5",
"protein_id": "NP_005848.2",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 475,
"cds_start": 207,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372759.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005857.5"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMPSTE24",
"gene_hgnc_id": 12877,
"hgvs_c": "c.207_208delCT",
"hgvs_p": "p.Tyr70fs",
"transcript": "ENST00000372759.4",
"protein_id": "ENSP00000361845.3",
"transcript_support_level": 1,
"aa_start": 69,
"aa_end": null,
"aa_length": 475,
"cds_start": 207,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005857.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372759.4"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMPSTE24",
"gene_hgnc_id": 12877,
"hgvs_c": "c.207_208delCT",
"hgvs_p": "p.Tyr70fs",
"transcript": "ENST00000869004.1",
"protein_id": "ENSP00000539063.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 458,
"cds_start": 207,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869004.1"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMPSTE24",
"gene_hgnc_id": 12877,
"hgvs_c": "c.207_208delCT",
"hgvs_p": "p.Tyr70fs",
"transcript": "ENST00000869005.1",
"protein_id": "ENSP00000539064.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 440,
"cds_start": 207,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869005.1"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMPSTE24",
"gene_hgnc_id": 12877,
"hgvs_c": "c.207_208delCT",
"hgvs_p": "p.Tyr70fs",
"transcript": "ENST00000869003.1",
"protein_id": "ENSP00000539062.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 427,
"cds_start": 207,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869003.1"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMPSTE24",
"gene_hgnc_id": 12877,
"hgvs_c": "c.207_208delCT",
"hgvs_p": "p.Tyr70fs",
"transcript": "ENST00000869006.1",
"protein_id": "ENSP00000539065.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 424,
"cds_start": 207,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869006.1"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMPSTE24",
"gene_hgnc_id": 12877,
"hgvs_c": "c.207_208delCT",
"hgvs_p": "p.Tyr70fs",
"transcript": "ENST00000869009.1",
"protein_id": "ENSP00000539068.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 407,
"cds_start": 207,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869009.1"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMPSTE24",
"gene_hgnc_id": 12877,
"hgvs_c": "c.207_208delCT",
"hgvs_p": "p.Tyr70fs",
"transcript": "ENST00000869007.1",
"protein_id": "ENSP00000539066.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 356,
"cds_start": 207,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869007.1"
},
{
"aa_ref": "LY",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMPSTE24",
"gene_hgnc_id": 12877,
"hgvs_c": "c.207_208delCT",
"hgvs_p": "p.Tyr70fs",
"transcript": "XM_047427590.1",
"protein_id": "XP_047283546.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 315,
"cds_start": 207,
"cds_end": null,
"cds_length": 948,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047427590.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZMPSTE24",
"gene_hgnc_id": 12877,
"hgvs_c": "c.123+2528_123+2529delCT",
"hgvs_p": null,
"transcript": "ENST00000869008.1",
"protein_id": "ENSP00000539067.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 426,
"cds_start": null,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869008.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMPSTE24",
"gene_hgnc_id": 12877,
"hgvs_c": "n.423_424delCT",
"hgvs_p": null,
"transcript": "ENST00000472583.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000472583.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMPSTE24",
"gene_hgnc_id": 12877,
"hgvs_c": "n.426_427delCT",
"hgvs_p": null,
"transcript": "ENST00000479131.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000479131.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMPSTE24",
"gene_hgnc_id": 12877,
"hgvs_c": "n.207_208delCT",
"hgvs_p": null,
"transcript": "ENST00000674703.1",
"protein_id": "ENSP00000501674.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000674703.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMPSTE24",
"gene_hgnc_id": 12877,
"hgvs_c": "n.207_208delCT",
"hgvs_p": null,
"transcript": "ENST00000675754.1",
"protein_id": "ENSP00000502555.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000675754.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZMPSTE24",
"gene_hgnc_id": 12877,
"hgvs_c": "n.207_208delCT",
"hgvs_p": null,
"transcript": "ENST00000675937.1",
"protein_id": "ENSP00000502683.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000675937.1"
}
],
"gene_symbol": "ZMPSTE24",
"gene_hgnc_id": 12877,
"dbsnp": "rs281875362",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.608,
"phylop100way_prediction": "Pathogenic",
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_005857.5",
"gene_symbol": "ZMPSTE24",
"hgnc_id": 12877,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.207_208delCT",
"hgvs_p": "p.Tyr70fs"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}