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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: 1-235662049-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=235662049&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 235662049,
"ref": "C",
"alt": "G",
"effect": "3_prime_UTR_variant",
"transcript": "NM_000081.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYST",
"gene_hgnc_id": 1968,
"hgvs_c": "c.*891G>C",
"hgvs_p": null,
"transcript": "NM_000081.4",
"protein_id": "NP_000072.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3801,
"cds_start": -4,
"cds_end": null,
"cds_length": 11406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13466,
"mane_select": "ENST00000389793.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYST",
"gene_hgnc_id": 1968,
"hgvs_c": "c.*891G>C",
"hgvs_p": null,
"transcript": "ENST00000389793.7",
"protein_id": "ENSP00000374443.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 3801,
"cds_start": -4,
"cds_end": null,
"cds_length": 11406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13466,
"mane_select": "NM_000081.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYST",
"gene_hgnc_id": 1968,
"hgvs_c": "n.4116G>C",
"hgvs_p": null,
"transcript": "ENST00000462376.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYST",
"gene_hgnc_id": 1968,
"hgvs_c": "n.7287G>C",
"hgvs_p": null,
"transcript": "ENST00000473037.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYST",
"gene_hgnc_id": 1968,
"hgvs_c": "n.*8283G>C",
"hgvs_p": null,
"transcript": "ENST00000697178.1",
"protein_id": "ENSP00000513163.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYST",
"gene_hgnc_id": 1968,
"hgvs_c": "n.*2725G>C",
"hgvs_p": null,
"transcript": "ENST00000697236.1",
"protein_id": "ENSP00000513203.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYST",
"gene_hgnc_id": 1968,
"hgvs_c": "n.*2254G>C",
"hgvs_p": null,
"transcript": "ENST00000697237.1",
"protein_id": "ENSP00000513204.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYST",
"gene_hgnc_id": 1968,
"hgvs_c": "c.*891G>C",
"hgvs_p": null,
"transcript": "NM_001301365.1",
"protein_id": "NP_001288294.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3801,
"cds_start": -4,
"cds_end": null,
"cds_length": 11406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYST",
"gene_hgnc_id": 1968,
"hgvs_c": "c.*891G>C",
"hgvs_p": null,
"transcript": "ENST00000697235.1",
"protein_id": "ENSP00000513202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 651,
"cds_start": -4,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYST",
"gene_hgnc_id": 1968,
"hgvs_c": "n.*8283G>C",
"hgvs_p": null,
"transcript": "ENST00000697178.1",
"protein_id": "ENSP00000513163.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYST",
"gene_hgnc_id": 1968,
"hgvs_c": "n.*2725G>C",
"hgvs_p": null,
"transcript": "ENST00000697236.1",
"protein_id": "ENSP00000513203.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYST",
"gene_hgnc_id": 1968,
"hgvs_c": "n.*2254G>C",
"hgvs_p": null,
"transcript": "ENST00000697237.1",
"protein_id": "ENSP00000513204.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYST",
"gene_hgnc_id": 1968,
"hgvs_c": "c.*891G>C",
"hgvs_p": null,
"transcript": "XM_011544031.2",
"protein_id": "XP_011542333.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3855,
"cds_start": -4,
"cds_end": null,
"cds_length": 11568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYST",
"gene_hgnc_id": 1968,
"hgvs_c": "c.*891G>C",
"hgvs_p": null,
"transcript": "XM_011544032.2",
"protein_id": "XP_011542334.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3855,
"cds_start": -4,
"cds_end": null,
"cds_length": 11568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14101,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYST",
"gene_hgnc_id": 1968,
"hgvs_c": "c.*891G>C",
"hgvs_p": null,
"transcript": "XM_011544033.3",
"protein_id": "XP_011542335.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3855,
"cds_start": -4,
"cds_end": null,
"cds_length": 11568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 54,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYST",
"gene_hgnc_id": 1968,
"hgvs_c": "c.*891G>C",
"hgvs_p": null,
"transcript": "XM_047443026.1",
"protein_id": "XP_047298982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3855,
"cds_start": -4,
"cds_end": null,
"cds_length": 11568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 20517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYST",
"gene_hgnc_id": 1968,
"hgvs_c": "c.*891G>C",
"hgvs_p": null,
"transcript": "XM_011544036.3",
"protein_id": "XP_011542338.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3076,
"cds_start": -4,
"cds_end": null,
"cds_length": 9231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 49,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LYST",
"gene_hgnc_id": 1968,
"hgvs_c": "c.*891G>C",
"hgvs_p": null,
"transcript": "XM_047443034.1",
"protein_id": "XP_047298990.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 3022,
"cds_start": -4,
"cds_end": null,
"cds_length": 9069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LYST",
"gene_hgnc_id": 1968,
"dbsnp": "rs41269373",
"frequency_reference_population": 0.003218264,
"hom_count_reference_population": 3,
"allele_count_reference_population": 490,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0.00321826,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 490,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 3,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8399999737739563,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.236,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000081.4",
"gene_symbol": "LYST",
"hgnc_id": 1968,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*891G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Chédiak-Higashi syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"phenotype_combined": "Chédiak-Higashi syndrome|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}