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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: 17-28963951-T-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=28963951&ref=T&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 28963951,
"ref": "T",
"alt": "TG",
"effect": "intron_variant",
"transcript": "ENST00000317338.17",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SEZ6",
"gene_hgnc_id": 15955,
"hgvs_c": "c.1240+10dupC",
"hgvs_p": null,
"transcript": "NM_178860.5",
"protein_id": "NP_849191.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 994,
"cds_start": -4,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": "ENST00000317338.17",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SEZ6",
"gene_hgnc_id": 15955,
"hgvs_c": "c.1240+10_1240+11insC",
"hgvs_p": null,
"transcript": "ENST00000317338.17",
"protein_id": "ENSP00000312942.11",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 994,
"cds_start": -4,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": "NM_178860.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SEZ6",
"gene_hgnc_id": 15955,
"hgvs_c": "c.1018+10_1018+11insC",
"hgvs_p": null,
"transcript": "ENST00000540632.6",
"protein_id": "ENSP00000437650.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 919,
"cds_start": -4,
"cds_end": null,
"cds_length": 2760,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SEZ6",
"gene_hgnc_id": 15955,
"hgvs_c": "c.1240+10dupC",
"hgvs_p": null,
"transcript": "NM_001098635.2",
"protein_id": "NP_001092105.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 993,
"cds_start": -4,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SEZ6",
"gene_hgnc_id": 15955,
"hgvs_c": "c.1240+10_1240+11insC",
"hgvs_p": null,
"transcript": "ENST00000360295.13",
"protein_id": "ENSP00000353440.9",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 993,
"cds_start": -4,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SEZ6",
"gene_hgnc_id": 15955,
"hgvs_c": "c.1240+10_1240+11insC",
"hgvs_p": null,
"transcript": "ENST00000442608.7",
"protein_id": "ENSP00000403784.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 980,
"cds_start": -4,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SEZ6",
"gene_hgnc_id": 15955,
"hgvs_c": "c.865+10dupC",
"hgvs_p": null,
"transcript": "NM_001290202.2",
"protein_id": "NP_001277131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 869,
"cds_start": -4,
"cds_end": null,
"cds_length": 2610,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4072,
"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": 16,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SEZ6",
"gene_hgnc_id": 15955,
"hgvs_c": "n.736+10_736+11insC",
"hgvs_p": null,
"transcript": "ENST00000540419.5",
"protein_id": "ENSP00000440764.1",
"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": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PIPOX",
"gene_hgnc_id": 17804,
"hgvs_c": "n.83+10543_83+10544insG",
"hgvs_p": null,
"transcript": "ENST00000577182.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PIPOX",
"gene_hgnc_id": 17804,
"hgvs_c": "n.641+10543_641+10544insG",
"hgvs_p": null,
"transcript": "ENST00000578748.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PIPOX",
"gene_hgnc_id": 17804,
"hgvs_c": "n.227+10543_227+10544insG",
"hgvs_p": null,
"transcript": "ENST00000580241.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PIPOX",
"gene_hgnc_id": 17804,
"hgvs_c": "n.75+13257_75+13258insG",
"hgvs_p": null,
"transcript": "ENST00000580383.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PIPOX",
"gene_hgnc_id": 17804,
"hgvs_c": "n.97+10543_97+10544insG",
"hgvs_p": null,
"transcript": "ENST00000583215.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SEZ6",
"gene_hgnc_id": 15955,
"hgvs_c": "c.1240+10dupC",
"hgvs_p": null,
"transcript": "XM_011524315.3",
"protein_id": "XP_011522617.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1073,
"cds_start": -4,
"cds_end": null,
"cds_length": 3222,
"cdna_start": null,
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"cdna_length": 4087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SEZ6",
"gene_hgnc_id": 15955,
"hgvs_c": "c.1240+10dupC",
"hgvs_p": null,
"transcript": "XM_011524317.4",
"protein_id": "XP_011522619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 964,
"cds_start": -4,
"cds_end": null,
"cds_length": 2895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105371716",
"gene_hgnc_id": null,
"hgvs_c": "n.1807+10546dupG",
"hgvs_p": null,
"transcript": "XR_001752822.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105371716",
"gene_hgnc_id": null,
"hgvs_c": "n.1807+10546dupG",
"hgvs_p": null,
"transcript": "XR_007065691.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SEZ6",
"gene_hgnc_id": 15955,
"dbsnp": "rs11450637",
"frequency_reference_population": 0.5252614,
"hom_count_reference_population": 228868,
"allele_count_reference_population": 842597,
"gnomad_exomes_af": 0.515984,
"gnomad_genomes_af": 0.613829,
"gnomad_exomes_ac": 749236,
"gnomad_genomes_ac": 93361,
"gnomad_exomes_homalt": 197667,
"gnomad_genomes_homalt": 31201,
"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": 0.265,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BA1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000317338.17",
"gene_symbol": "SEZ6",
"hgnc_id": 15955,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1240+10_1240+11insC",
"hgvs_p": null
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000578748.6",
"gene_symbol": "PIPOX",
"hgnc_id": 17804,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.641+10543_641+10544insG",
"hgvs_p": null
},
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "XR_001752822.2",
"gene_symbol": "LOC105371716",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1807+10546dupG",
"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
}