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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: 16-11752763-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=11752763&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 11752763,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014153.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "c.2632T>G",
"hgvs_p": "p.Ser878Ala",
"transcript": "NM_014153.4",
"protein_id": "NP_054872.2",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 971,
"cds_start": 2632,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355758.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014153.4"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "c.2632T>G",
"hgvs_p": "p.Ser878Ala",
"transcript": "ENST00000355758.9",
"protein_id": "ENSP00000347999.4",
"transcript_support_level": 1,
"aa_start": 878,
"aa_end": null,
"aa_length": 971,
"cds_start": 2632,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014153.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355758.9"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "c.2632T>G",
"hgvs_p": "p.Ser878Ala",
"transcript": "ENST00000396516.6",
"protein_id": "ENSP00000379773.2",
"transcript_support_level": 1,
"aa_start": 878,
"aa_end": null,
"aa_length": 971,
"cds_start": 2632,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396516.6"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "c.220T>G",
"hgvs_p": "p.Ser74Ala",
"transcript": "ENST00000575984.1",
"protein_id": "ENSP00000459477.1",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 167,
"cds_start": 220,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575984.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "n.400T>G",
"hgvs_p": null,
"transcript": "ENST00000570918.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000570918.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "c.2632T>G",
"hgvs_p": "p.Ser878Ala",
"transcript": "XM_006720877.3",
"protein_id": "XP_006720940.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 971,
"cds_start": 2632,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720877.3"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "c.2632T>G",
"hgvs_p": "p.Ser878Ala",
"transcript": "XM_011522463.3",
"protein_id": "XP_011520765.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 971,
"cds_start": 2632,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522463.3"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "c.2632T>G",
"hgvs_p": "p.Ser878Ala",
"transcript": "XM_047433996.1",
"protein_id": "XP_047289952.1",
"transcript_support_level": null,
"aa_start": 878,
"aa_end": null,
"aa_length": 971,
"cds_start": 2632,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433996.1"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "c.2329T>G",
"hgvs_p": "p.Ser777Ala",
"transcript": "XM_017023174.2",
"protein_id": "XP_016878663.1",
"transcript_support_level": null,
"aa_start": 777,
"aa_end": null,
"aa_length": 870,
"cds_start": 2329,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023174.2"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "c.1915T>G",
"hgvs_p": "p.Ser639Ala",
"transcript": "XM_011522464.3",
"protein_id": "XP_011520766.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 732,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522464.3"
},
{
"aa_ref": "S",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "c.1459T>G",
"hgvs_p": "p.Ser487Ala",
"transcript": "XM_047433998.1",
"protein_id": "XP_047289954.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 580,
"cds_start": 1459,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433998.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "n.*248T>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": null,
"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": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"hgvs_c": "n.*248T>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": null,
"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.110+9537A>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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000789294.1"
}
],
"gene_symbol": "ZC3H7A",
"gene_hgnc_id": 30959,
"dbsnp": "rs145286621",
"frequency_reference_population": 0.00006691326,
"hom_count_reference_population": 0,
"allele_count_reference_population": 108,
"gnomad_exomes_af": 0.0000424114,
"gnomad_genomes_af": 0.000302317,
"gnomad_exomes_ac": 62,
"gnomad_genomes_ac": 46,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4972784221172333,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.359,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3854,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.325,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_014153.4",
"gene_symbol": "ZC3H7A",
"hgnc_id": 30959,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2632T>G",
"hgvs_p": "p.Ser878Ala"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000789294.1",
"gene_symbol": "TXNDC11-AS1",
"hgnc_id": 56375,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.110+9537A>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
}