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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: 4-4320351-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=4320351&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 4320351,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_145291.4",
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZBTB49",
"gene_hgnc_id": 19883,
"hgvs_c": "c.1622-289G>A",
"hgvs_p": null,
"transcript": "NM_145291.4",
"protein_id": "NP_660334.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 765,
"cds_start": null,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337872.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145291.4"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ZBTB49",
"gene_hgnc_id": 19883,
"hgvs_c": "c.1622-289G>A",
"hgvs_p": null,
"transcript": "ENST00000337872.9",
"protein_id": "ENSP00000338807.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 765,
"cds_start": null,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145291.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337872.9"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZBTB49",
"gene_hgnc_id": 19883,
"hgvs_c": "c.464-289G>A",
"hgvs_p": null,
"transcript": "ENST00000504302.1",
"protein_id": "ENSP00000421654.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 172,
"cds_start": null,
"cds_end": null,
"cds_length": 521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504302.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZBTB49",
"gene_hgnc_id": 19883,
"hgvs_c": "n.*818-289G>A",
"hgvs_p": null,
"transcript": "ENST00000503703.5",
"protein_id": "ENSP00000424525.1",
"transcript_support_level": 1,
"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": "ENST00000503703.5"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZBTB49",
"gene_hgnc_id": 19883,
"hgvs_c": "n.*139-289G>A",
"hgvs_p": null,
"transcript": "ENST00000515012.5",
"protein_id": "ENSP00000422321.1",
"transcript_support_level": 1,
"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": "ENST00000515012.5"
},
{
"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": 7,
"intron_rank_end": null,
"gene_symbol": "ZBTB49",
"gene_hgnc_id": 19883,
"hgvs_c": "c.1622-289G>A",
"hgvs_p": null,
"transcript": "NM_001330625.2",
"protein_id": "NP_001317554.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 765,
"cds_start": null,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330625.2"
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "ZBTB49",
"gene_hgnc_id": 19883,
"hgvs_c": "c.1622-289G>A",
"hgvs_p": null,
"transcript": "ENST00000880134.1",
"protein_id": "ENSP00000550193.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 765,
"cds_start": null,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880134.1"
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "ZBTB49",
"gene_hgnc_id": 19883,
"hgvs_c": "c.1622-289G>A",
"hgvs_p": null,
"transcript": "ENST00000924925.1",
"protein_id": "ENSP00000594984.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 765,
"cds_start": null,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924925.1"
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "ZBTB49",
"gene_hgnc_id": 19883,
"hgvs_c": "c.1622-289G>A",
"hgvs_p": null,
"transcript": "ENST00000942737.1",
"protein_id": "ENSP00000612796.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 765,
"cds_start": null,
"cds_end": null,
"cds_length": 2298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942737.1"
},
{
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZBTB49",
"gene_hgnc_id": 19883,
"hgvs_c": "c.1571-289G>A",
"hgvs_p": null,
"transcript": "ENST00000880133.1",
"protein_id": "ENSP00000550192.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 748,
"cds_start": null,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880133.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZBTB49",
"gene_hgnc_id": 19883,
"hgvs_c": "c.1256-289G>A",
"hgvs_p": null,
"transcript": "XM_011513416.2",
"protein_id": "XP_011511718.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 643,
"cds_start": null,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011513416.2"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ZBTB49",
"gene_hgnc_id": 19883,
"hgvs_c": "c.1256-289G>A",
"hgvs_p": null,
"transcript": "XM_047449706.1",
"protein_id": "XP_047305662.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 643,
"cds_start": null,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449706.1"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZBTB49",
"gene_hgnc_id": 19883,
"hgvs_c": "c.1377-289G>A",
"hgvs_p": null,
"transcript": "XM_005247951.5",
"protein_id": "XP_005248008.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": null,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247951.5"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "ZBTB49",
"gene_hgnc_id": 19883,
"hgvs_c": "c.1377-289G>A",
"hgvs_p": null,
"transcript": "XM_047449707.1",
"protein_id": "XP_047305663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 466,
"cds_start": null,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449707.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZBTB49",
"gene_hgnc_id": 19883,
"hgvs_c": "c.71-289G>A",
"hgvs_p": null,
"transcript": "XM_047449708.1",
"protein_id": "XP_047305664.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 248,
"cds_start": null,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449708.1"
},
{
"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": "ZBTB49",
"gene_hgnc_id": 19883,
"hgvs_c": "n.*67-289G>A",
"hgvs_p": null,
"transcript": "ENST00000511458.1",
"protein_id": "ENSP00000426765.1",
"transcript_support_level": 3,
"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": "ENST00000511458.1"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZBTB49",
"gene_hgnc_id": 19883,
"hgvs_c": "n.1622-289G>A",
"hgvs_p": null,
"transcript": "NR_138481.2",
"protein_id": null,
"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": "pseudogene",
"feature": "NR_138481.2"
}
],
"gene_symbol": "ZBTB49",
"gene_hgnc_id": 19883,
"dbsnp": "rs873924",
"frequency_reference_population": 0.41777405,
"hom_count_reference_population": 13402,
"allele_count_reference_population": 63505,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.417774,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 63505,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 13402,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.3499999940395355,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.041,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.35,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BA1",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BA1"
],
"verdict": "Benign",
"transcript": "NM_145291.4",
"gene_symbol": "ZBTB49",
"hgnc_id": 19883,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1622-289G>A",
"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
}