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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: 16-11761464-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=11761464&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 11761464,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014153.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "c.2261A>G",
"hgvs_p": "p.Lys754Arg",
"transcript": "NM_014153.4",
"protein_id": "NP_054872.2",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 971,
"cds_start": 2261,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2430,
"cdna_end": null,
"cdna_length": 3805,
"mane_select": "ENST00000355758.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014153.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "c.2261A>G",
"hgvs_p": "p.Lys754Arg",
"transcript": "ENST00000355758.9",
"protein_id": "ENSP00000347999.4",
"transcript_support_level": 1,
"aa_start": 754,
"aa_end": null,
"aa_length": 971,
"cds_start": 2261,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2430,
"cdna_end": null,
"cdna_length": 3805,
"mane_select": "NM_014153.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355758.9"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "c.2261A>G",
"hgvs_p": "p.Lys754Arg",
"transcript": "ENST00000396516.6",
"protein_id": "ENSP00000379773.2",
"transcript_support_level": 1,
"aa_start": 754,
"aa_end": null,
"aa_length": 971,
"cds_start": 2261,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2459,
"cdna_end": null,
"cdna_length": 3845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396516.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "c.1991A>G",
"hgvs_p": "p.Lys664Arg",
"transcript": "ENST00000571198.5",
"protein_id": "ENSP00000459747.1",
"transcript_support_level": 2,
"aa_start": 664,
"aa_end": null,
"aa_length": 732,
"cds_start": 1991,
"cds_end": null,
"cds_length": 2200,
"cdna_start": 2134,
"cdna_end": null,
"cdna_length": 2343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571198.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "c.2261A>G",
"hgvs_p": "p.Lys754Arg",
"transcript": "XM_006720877.3",
"protein_id": "XP_006720940.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 971,
"cds_start": 2261,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 3067,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720877.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "c.2261A>G",
"hgvs_p": "p.Lys754Arg",
"transcript": "XM_011522463.3",
"protein_id": "XP_011520765.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 971,
"cds_start": 2261,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2627,
"cdna_end": null,
"cdna_length": 4002,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522463.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "c.2261A>G",
"hgvs_p": "p.Lys754Arg",
"transcript": "XM_047433996.1",
"protein_id": "XP_047289952.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 971,
"cds_start": 2261,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2605,
"cdna_end": null,
"cdna_length": 3980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433996.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "c.1958A>G",
"hgvs_p": "p.Lys653Arg",
"transcript": "XM_017023174.2",
"protein_id": "XP_016878663.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 870,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 2204,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023174.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "c.1544A>G",
"hgvs_p": "p.Lys515Arg",
"transcript": "XM_011522464.3",
"protein_id": "XP_011520766.1",
"transcript_support_level": null,
"aa_start": 515,
"aa_end": null,
"aa_length": 732,
"cds_start": 1544,
"cds_end": null,
"cds_length": 2199,
"cdna_start": 2223,
"cdna_end": null,
"cdna_length": 3598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522464.3"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "c.1088A>G",
"hgvs_p": "p.Lys363Arg",
"transcript": "XM_047433998.1",
"protein_id": "XP_047289954.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 580,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 2563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433998.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "c.2213+446A>G",
"hgvs_p": null,
"transcript": "XM_047433997.1",
"protein_id": "XP_047289953.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": null,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433997.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "n.199A>G",
"hgvs_p": null,
"transcript": "ENST00000570862.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 415,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000570862.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "n.610+4A>G",
"hgvs_p": null,
"transcript": "ENST00000571405.5",
"protein_id": "ENSP00000459811.1",
"transcript_support_level": 2,
"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": 1930,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000571405.5"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TXNDC11-AS1",
"gene_hgnc_id": 56375,
"hgvs_c": "n.111-6174T>C",
"hgvs_p": null,
"transcript": "ENST00000789294.1",
"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": 392,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000789294.1"
}
],
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"dbsnp": "rs772874161",
"frequency_reference_population": 6.8406285e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84063e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11360177397727966,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.10999999940395355,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.068,
"revel_prediction": "Benign",
"alphamissense_score": 0.0804,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.202,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.11,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014153.4",
"gene_symbol": "ZC3H7A",
"hgnc_id": 30959,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2261A>G",
"hgvs_p": "p.Lys754Arg"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000789294.1",
"gene_symbol": "TXNDC11-AS1",
"hgnc_id": 56375,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.111-6174T>C",
"hgvs_p": null
}
],
"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
}