← 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: 7-139073917-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=139073917&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 139073917,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001363491.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HAV1",
"gene_hgnc_id": 23721,
"hgvs_c": "c.1811C>T",
"hgvs_p": "p.Thr604Ile",
"transcript": "NM_020119.4",
"protein_id": "NP_064504.2",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 902,
"cds_start": 1811,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000242351.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020119.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HAV1",
"gene_hgnc_id": 23721,
"hgvs_c": "c.1811C>T",
"hgvs_p": "p.Thr604Ile",
"transcript": "ENST00000242351.10",
"protein_id": "ENSP00000242351.5",
"transcript_support_level": 1,
"aa_start": 604,
"aa_end": null,
"aa_length": 902,
"cds_start": 1811,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020119.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000242351.10"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HAV1",
"gene_hgnc_id": 23721,
"hgvs_c": "c.1811C>T",
"hgvs_p": "p.Thr604Ile",
"transcript": "ENST00000471652.1",
"protein_id": "ENSP00000419855.1",
"transcript_support_level": 1,
"aa_start": 604,
"aa_end": null,
"aa_length": 699,
"cds_start": 1811,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471652.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HAV1",
"gene_hgnc_id": 23721,
"hgvs_c": "c.503C>T",
"hgvs_p": "p.Thr168Ile",
"transcript": "ENST00000460845.5",
"protein_id": "ENSP00000420107.1",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 263,
"cds_start": 503,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460845.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HAV1",
"gene_hgnc_id": 23721,
"hgvs_c": "c.2177C>T",
"hgvs_p": "p.Thr726Ile",
"transcript": "NM_001363491.2",
"protein_id": "NP_001350420.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2177,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363491.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HAV1",
"gene_hgnc_id": 23721,
"hgvs_c": "c.2177C>T",
"hgvs_p": "p.Thr726Ile",
"transcript": "ENST00000464606.5",
"protein_id": "ENSP00000418385.1",
"transcript_support_level": 5,
"aa_start": 726,
"aa_end": null,
"aa_length": 1024,
"cds_start": 2177,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464606.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HAV1",
"gene_hgnc_id": 23721,
"hgvs_c": "c.1376C>T",
"hgvs_p": "p.Thr459Ile",
"transcript": "ENST00000680309.1",
"protein_id": "ENSP00000505045.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 757,
"cds_start": 1376,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680309.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HAV1",
"gene_hgnc_id": 23721,
"hgvs_c": "c.1811C>T",
"hgvs_p": "p.Thr604Ile",
"transcript": "NM_024625.4",
"protein_id": "NP_078901.3",
"transcript_support_level": null,
"aa_start": 604,
"aa_end": null,
"aa_length": 699,
"cds_start": 1811,
"cds_end": null,
"cds_length": 2100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024625.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HAV1",
"gene_hgnc_id": 23721,
"hgvs_c": "c.935C>T",
"hgvs_p": "p.Thr312Ile",
"transcript": "ENST00000921229.1",
"protein_id": "ENSP00000591288.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 610,
"cds_start": 935,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921229.1"
}
],
"gene_symbol": "ZC3HAV1",
"gene_hgnc_id": 23721,
"dbsnp": "rs375243384",
"frequency_reference_population": 0.000020446807,
"hom_count_reference_population": 0,
"allele_count_reference_population": 33,
"gnomad_exomes_af": 0.0000218922,
"gnomad_genomes_af": 0.00000656883,
"gnomad_exomes_ac": 32,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3566265106201172,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.187,
"revel_prediction": "Benign",
"alphamissense_score": 0.6072,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.627,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001363491.2",
"gene_symbol": "ZC3HAV1",
"hgnc_id": 23721,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2177C>T",
"hgvs_p": "p.Thr726Ile"
}
],
"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
}