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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: 11-65572916-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65572916&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65572916,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001098785.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM89B",
"gene_hgnc_id": 16708,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Pro83Ser",
"transcript": "NM_001098785.2",
"protein_id": "NP_001092255.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 189,
"cds_start": 247,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000530349.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098785.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM89B",
"gene_hgnc_id": 16708,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Pro83Ser",
"transcript": "ENST00000530349.2",
"protein_id": "ENSP00000431459.1",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 189,
"cds_start": 247,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001098785.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530349.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM89B",
"gene_hgnc_id": 16708,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Pro83Ser",
"transcript": "ENST00000316409.2",
"protein_id": "ENSP00000314829.2",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 176,
"cds_start": 247,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316409.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM89B",
"gene_hgnc_id": 16708,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Pro83Ser",
"transcript": "ENST00000449319.2",
"protein_id": "ENSP00000402439.2",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 154,
"cds_start": 247,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449319.2"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM89B",
"gene_hgnc_id": 16708,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Pro83Ser",
"transcript": "ENST00000896148.1",
"protein_id": "ENSP00000566207.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 196,
"cds_start": 247,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896148.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM89B",
"gene_hgnc_id": 16708,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Pro83Ser",
"transcript": "ENST00000896147.1",
"protein_id": "ENSP00000566206.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 184,
"cds_start": 247,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896147.1"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM89B",
"gene_hgnc_id": 16708,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Pro83Ser",
"transcript": "NM_152832.3",
"protein_id": "NP_690045.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 176,
"cds_start": 247,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152832.3"
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM89B",
"gene_hgnc_id": 16708,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Pro83Ser",
"transcript": "NM_001098784.2",
"protein_id": "NP_001092254.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 154,
"cds_start": 247,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098784.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNRD2",
"gene_hgnc_id": 11328,
"hgvs_c": "c.158-447C>T",
"hgvs_p": null,
"transcript": "ENST00000526433.1",
"protein_id": "ENSP00000435982.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 106,
"cds_start": null,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526433.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ZNRD2-DT",
"gene_hgnc_id": 27384,
"hgvs_c": "n.69-834G>A",
"hgvs_p": null,
"transcript": "ENST00000623234.3",
"protein_id": null,
"transcript_support_level": 6,
"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": "TEC",
"feature": "ENST00000623234.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNRD2",
"gene_hgnc_id": 11328,
"hgvs_c": "c.*519C>T",
"hgvs_p": null,
"transcript": "ENST00000533115.5",
"protein_id": "ENSP00000435432.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533115.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNRD2",
"gene_hgnc_id": 11328,
"hgvs_c": "c.*436C>T",
"hgvs_p": null,
"transcript": "ENST00000527920.5",
"protein_id": "ENSP00000432938.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 60,
"cds_start": null,
"cds_end": null,
"cds_length": 183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527920.5"
}
],
"gene_symbol": "FAM89B",
"gene_hgnc_id": 16708,
"dbsnp": "rs1857159080",
"frequency_reference_population": 0.000045783097,
"hom_count_reference_population": 0,
"allele_count_reference_population": 49,
"gnomad_exomes_af": 0.0000457831,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 49,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1155114471912384,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.087,
"revel_prediction": "Benign",
"alphamissense_score": 0.3027,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.869,
"phylop100way_prediction": "Uncertain_significance",
"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": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001098785.2",
"gene_symbol": "FAM89B",
"hgnc_id": 16708,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Pro83Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000526433.1",
"gene_symbol": "ZNRD2",
"hgnc_id": 11328,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.158-447C>T",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000623234.3",
"gene_symbol": "ZNRD2-DT",
"hgnc_id": 27384,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.69-834G>A",
"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
}