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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: 1-90916122-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=90916122&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 90916122,
"ref": "G",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000337393.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.*676C>T",
"hgvs_p": null,
"transcript": "NM_201269.3",
"protein_id": "NP_958357.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1327,
"cds_start": -4,
"cds_end": null,
"cds_length": 3984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5541,
"mane_select": "ENST00000337393.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.*676C>T",
"hgvs_p": null,
"transcript": "ENST00000337393.10",
"protein_id": "ENSP00000337008.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1327,
"cds_start": -4,
"cds_end": null,
"cds_length": 3984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5541,
"mane_select": "NM_201269.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.*676C>T",
"hgvs_p": null,
"transcript": "ENST00000347275.9",
"protein_id": "ENSP00000340828.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": -4,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.*676C>T",
"hgvs_p": null,
"transcript": "NM_001437612.1",
"protein_id": "NP_001424541.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1368,
"cds_start": -4,
"cds_end": null,
"cds_length": 4107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.*676C>T",
"hgvs_p": null,
"transcript": "NM_001437613.1",
"protein_id": "NP_001424542.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1368,
"cds_start": -4,
"cds_end": null,
"cds_length": 4107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.*676C>T",
"hgvs_p": null,
"transcript": "NM_001437610.1",
"protein_id": "NP_001424539.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1327,
"cds_start": -4,
"cds_end": null,
"cds_length": 3984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.*676C>T",
"hgvs_p": null,
"transcript": "NM_001437611.1",
"protein_id": "NP_001424540.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1327,
"cds_start": -4,
"cds_end": null,
"cds_length": 3984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.*676C>T",
"hgvs_p": null,
"transcript": "ENST00000370440.5",
"protein_id": "ENSP00000359469.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1327,
"cds_start": -4,
"cds_end": null,
"cds_length": 3984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.*676C>T",
"hgvs_p": null,
"transcript": "NM_016620.4",
"protein_id": "NP_057704.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": -4,
"cds_end": null,
"cds_length": 318,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
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"exon_count": 4,
"intron_rank": null,
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"gene_symbol": "ZNF644",
"gene_hgnc_id": 29222,
"hgvs_c": "c.*676C>T",
"hgvs_p": null,
"transcript": "NM_032186.5",
"protein_id": "NP_115562.3",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 105,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1897,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "ZNF644",
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"hgvs_c": "c.*676C>T",
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"transcript": "XM_005271257.6",
"protein_id": "XP_005271314.1",
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},
{
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],
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"exon_count": 7,
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},
{
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],
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"gene_symbol": "ZNF644",
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},
{
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],
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"gene_symbol": "ZNF644",
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},
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],
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},
{
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],
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],
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},
{
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],
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"hgvs_c": "c.*676C>T",
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"transcript": "XM_017002489.3",
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},
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],
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"intron_rank": null,
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},
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},
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"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "ZNF644",
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"transcript": "XM_017002492.3",
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},
{
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],
"exon_rank": 5,
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"exon_count": 5,
"intron_rank": null,
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"hgvs_c": "c.*676C>T",
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},
{
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},
{
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"protein_coding": true,
"strand": true,
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"downstream_gene_variant"
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"exon_count": 4,
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"gene_symbol": "ZNF644",
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"transcript": "ENST00000361321.5",
"protein_id": "ENSP00000354659.5",
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}
],
"gene_symbol": "ZNF644",
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"dbsnp": "rs1188952",
"frequency_reference_population": 0.12121332,
"hom_count_reference_population": 1167,
"allele_count_reference_population": 18486,
"gnomad_exomes_af": 0.0878378,
"gnomad_genomes_af": 0.121311,
"gnomad_exomes_ac": 39,
"gnomad_genomes_ac": 18447,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 1164,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.36000001430511475,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.877,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BA1",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000337393.10",
"gene_symbol": "ZNF644",
"hgnc_id": 29222,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.*676C>T",
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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
}