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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: 11-114250382-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=114250382&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 114250382,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000335953.9",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1849A>G",
"hgvs_p": "p.Met617Val",
"transcript": "NM_006006.6",
"protein_id": "NP_005997.2",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 673,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 8494,
"mane_select": "ENST00000335953.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1849A>G",
"hgvs_p": "p.Met617Val",
"transcript": "ENST00000335953.9",
"protein_id": "ENSP00000338157.4",
"transcript_support_level": 1,
"aa_start": 617,
"aa_end": null,
"aa_length": 673,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 8494,
"mane_select": "NM_006006.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1849A>G",
"hgvs_p": "p.Met617Val",
"transcript": "ENST00000392996.2",
"protein_id": "ENSP00000376721.2",
"transcript_support_level": 1,
"aa_start": 617,
"aa_end": null,
"aa_length": 673,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1921A>G",
"hgvs_p": "p.Met641Val",
"transcript": "ENST00000684612.1",
"protein_id": "ENSP00000507350.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 697,
"cds_start": 1921,
"cds_end": null,
"cds_length": 2094,
"cdna_start": 2180,
"cdna_end": null,
"cdna_length": 4155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1849A>G",
"hgvs_p": "p.Met617Val",
"transcript": "NM_001018011.3",
"protein_id": "NP_001018011.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 673,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 8400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1849A>G",
"hgvs_p": "p.Met617Val",
"transcript": "NM_001354750.2",
"protein_id": "NP_001341679.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 673,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 8754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1849A>G",
"hgvs_p": "p.Met617Val",
"transcript": "NM_001354751.2",
"protein_id": "NP_001341680.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 673,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 8375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1849A>G",
"hgvs_p": "p.Met617Val",
"transcript": "ENST00000682278.1",
"protein_id": "ENSP00000506794.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 673,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2549,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1849A>G",
"hgvs_p": "p.Met617Val",
"transcript": "ENST00000682697.1",
"protein_id": "ENSP00000506924.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 673,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2553,
"cdna_end": null,
"cdna_length": 4528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1849A>G",
"hgvs_p": "p.Met617Val",
"transcript": "ENST00000682971.1",
"protein_id": "ENSP00000506894.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 673,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 3992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1849A>G",
"hgvs_p": "p.Met617Val",
"transcript": "ENST00000683318.1",
"protein_id": "ENSP00000508351.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 673,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2030,
"cdna_end": null,
"cdna_length": 4005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1849A>G",
"hgvs_p": "p.Met617Val",
"transcript": "ENST00000683554.1",
"protein_id": "ENSP00000506953.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 673,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2924,
"cdna_end": null,
"cdna_length": 4899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1849A>G",
"hgvs_p": "p.Met617Val",
"transcript": "ENST00000684295.1",
"protein_id": "ENSP00000507788.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 673,
"cds_start": 1849,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2201,
"cdna_end": null,
"cdna_length": 4176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1762A>G",
"hgvs_p": "p.Met588Val",
"transcript": "NM_001354752.1",
"protein_id": "NP_001341681.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 644,
"cds_start": 1762,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 1852,
"cdna_end": null,
"cdna_length": 8240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "c.1762A>G",
"hgvs_p": "p.Met588Val",
"transcript": "ENST00000682810.1",
"protein_id": "ENSP00000507219.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 644,
"cds_start": 1762,
"cds_end": null,
"cds_length": 1935,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "n.530A>G",
"hgvs_p": null,
"transcript": "ENST00000535379.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "n.633A>G",
"hgvs_p": null,
"transcript": "ENST00000535509.1",
"protein_id": null,
"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": 727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "n.2506A>G",
"hgvs_p": null,
"transcript": "ENST00000682218.1",
"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": 4481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "n.546A>G",
"hgvs_p": null,
"transcript": "ENST00000683006.1",
"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": 6928,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "n.*389A>G",
"hgvs_p": null,
"transcript": "ENST00000683233.1",
"protein_id": "ENSP00000506995.1",
"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": 4207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"hgvs_c": "n.*389A>G",
"hgvs_p": null,
"transcript": "ENST00000683233.1",
"protein_id": "ENSP00000506995.1",
"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": 4207,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000256947",
"gene_hgnc_id": null,
"hgvs_c": "n.56+19102T>C",
"hgvs_p": null,
"transcript": "ENST00000544925.1",
"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": 393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZBTB16",
"gene_hgnc_id": 12930,
"dbsnp": "rs121434606",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8365933895111084,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.478,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7289,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.252,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000335953.9",
"gene_symbol": "ZBTB16",
"hgnc_id": 12930,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1849A>G",
"hgvs_p": "p.Met617Val"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000544925.1",
"gene_symbol": "ENSG00000256947",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.56+19102T>C",
"hgvs_p": null
}
],
"clinvar_disease": " and intellectual disability, genital hypoplasia,Skeletal defects",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Skeletal defects, genital hypoplasia, and intellectual disability",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}