← Back to variant description
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: 2-206310773-A-ATT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=206310773&ref=A&alt=ATT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 206310773,
"ref": "A",
"alt": "ATT",
"effect": "frameshift_variant",
"transcript": "ENST00000374423.9",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.6248_6249dupTT",
"hgvs_p": "p.Asn2084fs",
"transcript": "NM_020923.3",
"protein_id": "NP_065974.1",
"transcript_support_level": null,
"aa_start": 2084,
"aa_end": null,
"aa_length": 2354,
"cds_start": 6250,
"cds_end": null,
"cds_length": 7065,
"cdna_start": 6636,
"cdna_end": null,
"cdna_length": 10285,
"mane_select": "ENST00000374423.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "L?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.6248_6249dupTT",
"hgvs_p": "p.Asn2084fs",
"transcript": "ENST00000374423.9",
"protein_id": "ENSP00000363545.3",
"transcript_support_level": 1,
"aa_start": 2084,
"aa_end": null,
"aa_length": 2354,
"cds_start": 6250,
"cds_end": null,
"cds_length": 7065,
"cdna_start": 6636,
"cdna_end": null,
"cdna_length": 10285,
"mane_select": "NM_020923.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.6248_6249dupTT",
"hgvs_p": "p.Asn2084fs",
"transcript": "NM_001369654.1",
"protein_id": "NP_001356583.1",
"transcript_support_level": null,
"aa_start": 2084,
"aa_end": null,
"aa_length": 2354,
"cds_start": 6250,
"cds_end": null,
"cds_length": 7065,
"cdna_start": 6680,
"cdna_end": null,
"cdna_length": 10329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.6248_6249dupTT",
"hgvs_p": "p.Asn2084fs",
"transcript": "ENST00000649650.1",
"protein_id": "ENSP00000497308.1",
"transcript_support_level": null,
"aa_start": 2084,
"aa_end": null,
"aa_length": 2354,
"cds_start": 6250,
"cds_end": null,
"cds_length": 7065,
"cdna_start": 6654,
"cdna_end": null,
"cdna_length": 10303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.6242_6243dupTT",
"hgvs_p": "p.Asn2082fs",
"transcript": "NM_001285549.2",
"protein_id": "NP_001272478.1",
"transcript_support_level": null,
"aa_start": 2082,
"aa_end": null,
"aa_length": 2352,
"cds_start": 6244,
"cds_end": null,
"cds_length": 7059,
"cdna_start": 6569,
"cdna_end": null,
"cdna_length": 10218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.6248_6249dupTT",
"hgvs_p": "p.Asn2084fs",
"transcript": "XM_005246712.6",
"protein_id": "XP_005246769.1",
"transcript_support_level": null,
"aa_start": 2084,
"aa_end": null,
"aa_length": 2354,
"cds_start": 6250,
"cds_end": null,
"cds_length": 7065,
"cdna_start": 6567,
"cdna_end": null,
"cdna_length": 10216,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.6248_6249dupTT",
"hgvs_p": "p.Asn2084fs",
"transcript": "XM_005246713.4",
"protein_id": "XP_005246770.1",
"transcript_support_level": null,
"aa_start": 2084,
"aa_end": null,
"aa_length": 2354,
"cds_start": 6250,
"cds_end": null,
"cds_length": 7065,
"cdna_start": 6466,
"cdna_end": null,
"cdna_length": 10115,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.6248_6249dupTT",
"hgvs_p": "p.Asn2084fs",
"transcript": "XM_011511532.4",
"protein_id": "XP_011509834.1",
"transcript_support_level": null,
"aa_start": 2084,
"aa_end": null,
"aa_length": 2354,
"cds_start": 6250,
"cds_end": null,
"cds_length": 7065,
"cdna_start": 6713,
"cdna_end": null,
"cdna_length": 10362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.6248_6249dupTT",
"hgvs_p": "p.Asn2084fs",
"transcript": "XM_011511533.3",
"protein_id": "XP_011509835.1",
"transcript_support_level": null,
"aa_start": 2084,
"aa_end": null,
"aa_length": 2354,
"cds_start": 6250,
"cds_end": null,
"cds_length": 7065,
"cdna_start": 6499,
"cdna_end": null,
"cdna_length": 10148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.6248_6249dupTT",
"hgvs_p": "p.Asn2084fs",
"transcript": "XM_011511534.3",
"protein_id": "XP_011509836.1",
"transcript_support_level": null,
"aa_start": 2084,
"aa_end": null,
"aa_length": 2354,
"cds_start": 6250,
"cds_end": null,
"cds_length": 7065,
"cdna_start": 6422,
"cdna_end": null,
"cdna_length": 10071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.6248_6249dupTT",
"hgvs_p": "p.Asn2084fs",
"transcript": "XM_011511535.4",
"protein_id": "XP_011509837.1",
"transcript_support_level": null,
"aa_start": 2084,
"aa_end": null,
"aa_length": 2354,
"cds_start": 6250,
"cds_end": null,
"cds_length": 7065,
"cdna_start": 6523,
"cdna_end": null,
"cdna_length": 10172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.6248_6249dupTT",
"hgvs_p": "p.Asn2084fs",
"transcript": "XM_047445281.1",
"protein_id": "XP_047301237.1",
"transcript_support_level": null,
"aa_start": 2084,
"aa_end": null,
"aa_length": 2354,
"cds_start": 6250,
"cds_end": null,
"cds_length": 7065,
"cdna_start": 6600,
"cdna_end": null,
"cdna_length": 10249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.6248_6249dupTT",
"hgvs_p": "p.Asn2084fs",
"transcript": "XM_047445282.1",
"protein_id": "XP_047301238.1",
"transcript_support_level": null,
"aa_start": 2084,
"aa_end": null,
"aa_length": 2354,
"cds_start": 6250,
"cds_end": null,
"cds_length": 7065,
"cdna_start": 6789,
"cdna_end": null,
"cdna_length": 10438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.6242_6243dupTT",
"hgvs_p": "p.Asn2082fs",
"transcript": "XM_017004573.3",
"protein_id": "XP_016860062.1",
"transcript_support_level": null,
"aa_start": 2082,
"aa_end": null,
"aa_length": 2352,
"cds_start": 6244,
"cds_end": null,
"cds_length": 7059,
"cdna_start": 6786,
"cdna_end": null,
"cdna_length": 10435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.6242_6243dupTT",
"hgvs_p": "p.Asn2082fs",
"transcript": "XM_047445300.1",
"protein_id": "XP_047301256.1",
"transcript_support_level": null,
"aa_start": 2082,
"aa_end": null,
"aa_length": 2352,
"cds_start": 6244,
"cds_end": null,
"cds_length": 7059,
"cdna_start": 6783,
"cdna_end": null,
"cdna_length": 10432,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "n.*6144_*6145dupTT",
"hgvs_p": null,
"transcript": "ENST00000648361.1",
"protein_id": "ENSP00000497292.1",
"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": 8900,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "n.*5973_*5974dupTT",
"hgvs_p": null,
"transcript": "ENST00000649285.1",
"protein_id": "ENSP00000497978.1",
"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": 8920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.*3728_*3729dupTT",
"hgvs_p": null,
"transcript": "ENST00000649998.1",
"protein_id": "ENSP00000497521.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 753,
"cds_start": -4,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9706,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "n.*6144_*6145dupTT",
"hgvs_p": null,
"transcript": "ENST00000648361.1",
"protein_id": "ENSP00000497292.1",
"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": 8900,
"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": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "n.*5973_*5974dupTT",
"hgvs_p": null,
"transcript": "ENST00000649285.1",
"protein_id": "ENSP00000497978.1",
"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": 8920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"hgvs_c": "c.5909-7_5909-6dupTT",
"hgvs_p": null,
"transcript": "XM_017004575.3",
"protein_id": "XP_016860064.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1991,
"cds_start": -4,
"cds_end": null,
"cds_length": 5976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZDBF2",
"gene_hgnc_id": 29313,
"dbsnp": "rs879255650",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.51,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000374423.9",
"gene_symbol": "ZDBF2",
"hgnc_id": 29313,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.6248_6249dupTT",
"hgvs_p": "p.Asn2084fs"
}
],
"clinvar_disease": "Nasopalpebral lipoma-coloboma syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided|Nasopalpebral lipoma-coloboma syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}