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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: 20-63746967-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63746967&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 63746967,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_025224.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB46",
"gene_hgnc_id": 16094,
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Pro578Leu",
"transcript": "NM_001369741.1",
"protein_id": "NP_001356670.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 589,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 5231,
"mane_select": "ENST00000245663.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369741.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB46",
"gene_hgnc_id": 16094,
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Pro578Leu",
"transcript": "ENST00000245663.9",
"protein_id": "ENSP00000245663.3",
"transcript_support_level": 5,
"aa_start": 578,
"aa_end": null,
"aa_length": 589,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 5231,
"mane_select": "NM_001369741.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245663.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB46",
"gene_hgnc_id": 16094,
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Pro578Leu",
"transcript": "NM_025224.4",
"protein_id": "NP_079500.2",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 589,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1934,
"cdna_end": null,
"cdna_length": 5231,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025224.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB46",
"gene_hgnc_id": 16094,
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Pro578Leu",
"transcript": "ENST00000395104.5",
"protein_id": "ENSP00000378536.1",
"transcript_support_level": 2,
"aa_start": 578,
"aa_end": null,
"aa_length": 589,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 5198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395104.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB46",
"gene_hgnc_id": 16094,
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Pro578Leu",
"transcript": "ENST00000906793.1",
"protein_id": "ENSP00000576852.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 589,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 2237,
"cdna_end": null,
"cdna_length": 4684,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906793.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB46",
"gene_hgnc_id": 16094,
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Pro578Leu",
"transcript": "ENST00000906794.1",
"protein_id": "ENSP00000576853.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 589,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 5317,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906794.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB46",
"gene_hgnc_id": 16094,
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Pro578Leu",
"transcript": "ENST00000906795.1",
"protein_id": "ENSP00000576854.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 589,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1923,
"cdna_end": null,
"cdna_length": 4370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906795.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB46",
"gene_hgnc_id": 16094,
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Pro578Leu",
"transcript": "ENST00000906796.1",
"protein_id": "ENSP00000576855.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 589,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 2181,
"cdna_end": null,
"cdna_length": 2583,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906796.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB46",
"gene_hgnc_id": 16094,
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Pro578Leu",
"transcript": "ENST00000912109.1",
"protein_id": "ENSP00000582168.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 589,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 3174,
"cdna_end": null,
"cdna_length": 5621,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912109.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB46",
"gene_hgnc_id": 16094,
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Pro578Leu",
"transcript": "ENST00000947317.1",
"protein_id": "ENSP00000617376.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 589,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 2042,
"cdna_end": null,
"cdna_length": 5338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947317.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB46",
"gene_hgnc_id": 16094,
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Pro578Leu",
"transcript": "ENST00000947318.1",
"protein_id": "ENSP00000617377.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 589,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 2298,
"cdna_end": null,
"cdna_length": 4736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947318.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB46",
"gene_hgnc_id": 16094,
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Pro578Leu",
"transcript": "ENST00000947319.1",
"protein_id": "ENSP00000617378.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 589,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 2161,
"cdna_end": null,
"cdna_length": 4268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947319.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB46",
"gene_hgnc_id": 16094,
"hgvs_c": "c.1448C>T",
"hgvs_p": "p.Pro483Leu",
"transcript": "ENST00000912108.1",
"protein_id": "ENSP00000582167.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 494,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1702,
"cdna_end": null,
"cdna_length": 4997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912108.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB46",
"gene_hgnc_id": 16094,
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Pro578Leu",
"transcript": "XM_005260195.5",
"protein_id": "XP_005260252.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 589,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1974,
"cdna_end": null,
"cdna_length": 5271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260195.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB46",
"gene_hgnc_id": 16094,
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Pro578Leu",
"transcript": "XM_005260197.5",
"protein_id": "XP_005260254.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 589,
"cds_start": 1733,
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"cds_length": 1770,
"cdna_start": 3713,
"cdna_end": null,
"cdna_length": 7010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260197.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB46",
"gene_hgnc_id": 16094,
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Pro578Leu",
"transcript": "XM_005260198.5",
"protein_id": "XP_005260255.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 589,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1899,
"cdna_end": null,
"cdna_length": 5196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005260198.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB46",
"gene_hgnc_id": 16094,
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Pro578Leu",
"transcript": "XM_006723700.4",
"protein_id": "XP_006723763.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 589,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 5144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006723700.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB46",
"gene_hgnc_id": 16094,
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Pro578Leu",
"transcript": "XM_011528548.3",
"protein_id": "XP_011526850.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 589,
"cds_start": 1733,
"cds_end": null,
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"cdna_start": 3677,
"cdna_end": null,
"cdna_length": 6974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528548.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB46",
"gene_hgnc_id": 16094,
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Pro578Leu",
"transcript": "XM_047439901.1",
"protein_id": "XP_047295857.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 589,
"cds_start": 1733,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 2132,
"cdna_end": null,
"cdna_length": 5429,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439901.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB46",
"gene_hgnc_id": 16094,
"hgvs_c": "n.1934C>T",
"hgvs_p": null,
"transcript": "XR_936500.3",
"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": 3671,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_936500.3"
}
],
"gene_symbol": "ZBTB46",
"gene_hgnc_id": 16094,
"dbsnp": "rs536518455",
"frequency_reference_population": 0.0000025057286,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 6.92498e-7,
"gnomad_genomes_af": 0.0000196987,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03525775671005249,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.026,
"revel_prediction": "Benign",
"alphamissense_score": 0.1115,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.106,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_025224.4",
"gene_symbol": "ZBTB46",
"hgnc_id": 16094,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Pro578Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}