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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: 3-51970146-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=51970146&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 51970146,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032750.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"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": "ABHD14B",
"gene_hgnc_id": 28235,
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Ile84Val",
"transcript": "NM_001146314.2",
"protein_id": "NP_001139786.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 210,
"cds_start": 250,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361143.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146314.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"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": "ABHD14B",
"gene_hgnc_id": 28235,
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Ile84Val",
"transcript": "ENST00000361143.10",
"protein_id": "ENSP00000354841.5",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 210,
"cds_start": 250,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001146314.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361143.10"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "ABHD14B",
"gene_hgnc_id": 28235,
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Ile84Val",
"transcript": "ENST00000395008.6",
"protein_id": "ENSP00000378455.2",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 210,
"cds_start": 250,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395008.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14B",
"gene_hgnc_id": 28235,
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Ile84Val",
"transcript": "ENST00000483233.5",
"protein_id": "ENSP00000420065.1",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 210,
"cds_start": 250,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000483233.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "ABHD14B",
"gene_hgnc_id": 28235,
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Ile84Val",
"transcript": "ENST00000875165.1",
"protein_id": "ENSP00000545224.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 274,
"cds_start": 250,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875165.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "ABHD14B",
"gene_hgnc_id": 28235,
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Ile84Val",
"transcript": "ENST00000875166.1",
"protein_id": "ENSP00000545225.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 226,
"cds_start": 250,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875166.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "ABHD14B",
"gene_hgnc_id": 28235,
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Ile84Val",
"transcript": "NM_032750.3",
"protein_id": "NP_116139.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 210,
"cds_start": 250,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032750.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14B",
"gene_hgnc_id": 28235,
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Ile84Val",
"transcript": "ENST00000525795.1",
"protein_id": "ENSP00000433388.1",
"transcript_support_level": 3,
"aa_start": 84,
"aa_end": null,
"aa_length": 210,
"cds_start": 250,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525795.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "ABHD14B",
"gene_hgnc_id": 28235,
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Ile84Val",
"transcript": "ENST00000875164.1",
"protein_id": "ENSP00000545223.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 210,
"cds_start": 250,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875164.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "ABHD14B",
"gene_hgnc_id": 28235,
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Ile84Val",
"transcript": "ENST00000875167.1",
"protein_id": "ENSP00000545226.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 210,
"cds_start": 250,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875167.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "ABHD14B",
"gene_hgnc_id": 28235,
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Ile84Val",
"transcript": "ENST00000875168.1",
"protein_id": "ENSP00000545227.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 210,
"cds_start": 250,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875168.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "ABHD14B",
"gene_hgnc_id": 28235,
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Ile84Val",
"transcript": "ENST00000875169.1",
"protein_id": "ENSP00000545228.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 210,
"cds_start": 250,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875169.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14B",
"gene_hgnc_id": 28235,
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Ile84Val",
"transcript": "ENST00000914558.1",
"protein_id": "ENSP00000584617.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 210,
"cds_start": 250,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914558.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14B",
"gene_hgnc_id": 28235,
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Ile84Val",
"transcript": "ENST00000941099.1",
"protein_id": "ENSP00000611158.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 210,
"cds_start": 250,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941099.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14B",
"gene_hgnc_id": 28235,
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Ile84Val",
"transcript": "ENST00000461108.5",
"protein_id": "ENSP00000417564.1",
"transcript_support_level": 2,
"aa_start": 84,
"aa_end": null,
"aa_length": 188,
"cds_start": 250,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461108.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14B",
"gene_hgnc_id": 28235,
"hgvs_c": "c.136A>G",
"hgvs_p": "p.Ile46Val",
"transcript": "NM_001254753.1",
"protein_id": "NP_001241682.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 172,
"cds_start": 136,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001254753.1"
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ABHD14B",
"gene_hgnc_id": 28235,
"hgvs_c": "c.267-23A>G",
"hgvs_p": null,
"transcript": "ENST00000315877.14",
"protein_id": "ENSP00000318248.10",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 208,
"cds_start": null,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315877.14"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PCBP4",
"gene_hgnc_id": 8652,
"hgvs_c": "c.-213+3819A>G",
"hgvs_p": null,
"transcript": "ENST00000489595.6",
"protein_id": "ENSP00000420008.2",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 90,
"cds_start": null,
"cds_end": null,
"cds_length": 275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000489595.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABHD14B",
"gene_hgnc_id": 28235,
"hgvs_c": "n.705A>G",
"hgvs_p": null,
"transcript": "ENST00000487005.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000487005.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272762",
"gene_hgnc_id": null,
"hgvs_c": "n.306+1314A>G",
"hgvs_p": null,
"transcript": "ENST00000488257.2",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000488257.2"
}
],
"gene_symbol": "ABHD14B",
"gene_hgnc_id": 28235,
"dbsnp": "rs150276203",
"frequency_reference_population": 0.000093401504,
"hom_count_reference_population": 0,
"allele_count_reference_population": 146,
"gnomad_exomes_af": 0.0000978059,
"gnomad_genomes_af": 0.0000525673,
"gnomad_exomes_ac": 138,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.020191580057144165,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.054,
"revel_prediction": "Benign",
"alphamissense_score": 0.0593,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.765,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_032750.3",
"gene_symbol": "ABHD14B",
"hgnc_id": 28235,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.250A>G",
"hgvs_p": "p.Ile84Val"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000489595.6",
"gene_symbol": "PCBP4",
"hgnc_id": 8652,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-213+3819A>G",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000488257.2",
"gene_symbol": "ENSG00000272762",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.306+1314A>G",
"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
}