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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: 3-141374443-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=141374443&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 141374443,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000321464.7",
"consequences": [
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.-235+4497T>C",
"hgvs_p": null,
"transcript": "NM_001376113.1",
"protein_id": "NP_001363042.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1195,
"cds_start": -4,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8014,
"mane_select": "ENST00000321464.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.-235+4497T>C",
"hgvs_p": null,
"transcript": "ENST00000321464.7",
"protein_id": "ENSP00000372635.5",
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": 1195,
"cds_start": -4,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8014,
"mane_select": "NM_001376113.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.-480+4497T>C",
"hgvs_p": null,
"transcript": "ENST00000509842.5",
"protein_id": "ENSP00000426931.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 149,
"cds_start": -4,
"cds_end": null,
"cds_length": 452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1434,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "n.390+4497T>C",
"hgvs_p": null,
"transcript": "ENST00000507657.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 3419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.-480+4497T>C",
"hgvs_p": null,
"transcript": "NM_001080412.3",
"protein_id": "NP_001073881.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1195,
"cds_start": -4,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.-235+4497T>C",
"hgvs_p": null,
"transcript": "NM_001376112.1",
"protein_id": "NP_001363041.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1195,
"cds_start": -4,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.-480+4497T>C",
"hgvs_p": null,
"transcript": "NM_001376114.1",
"protein_id": "NP_001363043.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1195,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 8259,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.-172+4497T>C",
"hgvs_p": null,
"transcript": "NM_001376115.1",
"protein_id": "NP_001363044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1195,
"cds_start": -4,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7951,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.-267+4497T>C",
"hgvs_p": null,
"transcript": "NM_001376116.1",
"protein_id": "NP_001363045.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1195,
"cds_start": -4,
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"cds_length": 3588,
"cdna_start": null,
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"cdna_length": 8046,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.-333+4497T>C",
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"transcript": "NM_001376117.1",
"protein_id": "NP_001363046.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
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"gene_symbol": "ZBTB38",
"gene_hgnc_id": 26636,
"hgvs_c": "c.-358+4497T>C",
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"transcript": "NM_001376118.1",
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},
{
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],
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"gene_symbol": "ZBTB38",
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"transcript": "NM_001376119.1",
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},
{
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],
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"gene_symbol": "ZBTB38",
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},
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],
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"gene_symbol": "ZBTB38",
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},
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],
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"transcript": "NM_001376122.1",
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},
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],
"exon_rank": null,
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"gene_symbol": "ZBTB38",
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},
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],
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"gene_symbol": "ZBTB38",
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},
{
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],
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"gene_symbol": "ZBTB38",
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"hgvs_c": "c.-333+4497T>C",
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"transcript": "NM_001387941.1",
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},
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],
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"gene_symbol": "ZBTB38",
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"hgvs_c": "c.-509+4497T>C",
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],
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"gene_symbol": "ZBTB38",
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},
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],
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"gene_symbol": "ZBTB38",
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"hgvs_c": "c.-423+4497T>C",
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"transcript": "NM_001387950.1",
"protein_id": "NP_001374879.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "ZBTB38",
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"hgvs_c": "c.-228+4497T>C",
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"transcript": "NM_001387952.1",
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},
{
"aa_ref": null,
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],
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"gnomad_genomes_af": 0.52902,
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"gnomad_genomes_ac": 80373,
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"gnomad_genomes_homalt": 23441,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.078,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
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"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -12,
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"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000321464.7",
"gene_symbol": "ZBTB38",
"hgnc_id": 26636,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-235+4497T>C",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}