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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: 4-122396264-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=122396264&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 122396264,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_139243.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD1",
"gene_hgnc_id": 30713,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"transcript": "NM_139243.4",
"protein_id": "NP_640336.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 576,
"cds_start": 611,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000296513.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139243.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD1",
"gene_hgnc_id": 30713,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"transcript": "ENST00000296513.7",
"protein_id": "ENSP00000296513.2",
"transcript_support_level": 2,
"aa_start": 204,
"aa_end": null,
"aa_length": 576,
"cds_start": 611,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139243.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296513.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD1",
"gene_hgnc_id": 30713,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"transcript": "ENST00000388724.6",
"protein_id": "ENSP00000373376.2",
"transcript_support_level": 1,
"aa_start": 204,
"aa_end": null,
"aa_length": 565,
"cds_start": 611,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000388724.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD1",
"gene_hgnc_id": 30713,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"transcript": "NM_001159285.2",
"protein_id": "NP_001152757.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 565,
"cds_start": 611,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159285.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD1",
"gene_hgnc_id": 30713,
"hgvs_c": "c.557T>C",
"hgvs_p": "p.Ile186Thr",
"transcript": "NM_001159295.2",
"protein_id": "NP_001152767.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 558,
"cds_start": 557,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159295.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD1",
"gene_hgnc_id": 30713,
"hgvs_c": "c.557T>C",
"hgvs_p": "p.Ile186Thr",
"transcript": "ENST00000388725.2",
"protein_id": "ENSP00000373377.2",
"transcript_support_level": 2,
"aa_start": 186,
"aa_end": null,
"aa_length": 558,
"cds_start": 557,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000388725.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD1",
"gene_hgnc_id": 30713,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"transcript": "ENST00000439307.5",
"protein_id": "ENSP00000397254.1",
"transcript_support_level": 3,
"aa_start": 204,
"aa_end": null,
"aa_length": 240,
"cds_start": 611,
"cds_end": null,
"cds_length": 724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439307.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD1",
"gene_hgnc_id": 30713,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"transcript": "XM_005262741.3",
"protein_id": "XP_005262798.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 576,
"cds_start": 611,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262741.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD1",
"gene_hgnc_id": 30713,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"transcript": "XM_005262743.4",
"protein_id": "XP_005262800.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 576,
"cds_start": 611,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262743.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD1",
"gene_hgnc_id": 30713,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"transcript": "XM_011531603.3",
"protein_id": "XP_011529905.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 576,
"cds_start": 611,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531603.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD1",
"gene_hgnc_id": 30713,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"transcript": "XM_024453888.1",
"protein_id": "XP_024309656.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 576,
"cds_start": 611,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453888.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD1",
"gene_hgnc_id": 30713,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"transcript": "XM_005262744.4",
"protein_id": "XP_005262801.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 565,
"cds_start": 611,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262744.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD1",
"gene_hgnc_id": 30713,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"transcript": "XM_024453889.1",
"protein_id": "XP_024309657.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 565,
"cds_start": 611,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453889.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD1",
"gene_hgnc_id": 30713,
"hgvs_c": "c.542T>C",
"hgvs_p": "p.Ile181Thr",
"transcript": "XM_005262745.4",
"protein_id": "XP_005262802.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 553,
"cds_start": 542,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262745.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADAD1",
"gene_hgnc_id": 30713,
"hgvs_c": "n.617T>C",
"hgvs_p": null,
"transcript": "ENST00000492454.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000492454.1"
}
],
"gene_symbol": "ADAD1",
"gene_hgnc_id": 30713,
"dbsnp": "rs766697064",
"frequency_reference_population": 0.000023907882,
"hom_count_reference_population": 0,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.0000257436,
"gnomad_genomes_af": 0.00000657099,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06993216276168823,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.073,
"revel_prediction": "Benign",
"alphamissense_score": 0.0905,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.65,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_139243.4",
"gene_symbol": "ADAD1",
"hgnc_id": 30713,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr"
}
],
"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
}