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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: 1-15945755-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=15945755&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 15945755,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000375743.9",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB17",
"gene_hgnc_id": 12936,
"hgvs_c": "c.621T>C",
"hgvs_p": "p.Ala207Ala",
"transcript": "NM_003443.3",
"protein_id": "NP_003434.2",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 803,
"cds_start": 621,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 2720,
"mane_select": "ENST00000375743.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB17",
"gene_hgnc_id": 12936,
"hgvs_c": "c.621T>C",
"hgvs_p": "p.Ala207Ala",
"transcript": "ENST00000375743.9",
"protein_id": "ENSP00000364895.4",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 803,
"cds_start": 621,
"cds_end": null,
"cds_length": 2412,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 2720,
"mane_select": "NM_003443.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB17",
"gene_hgnc_id": 12936,
"hgvs_c": "c.621T>C",
"hgvs_p": "p.Ala207Ala",
"transcript": "ENST00000375733.6",
"protein_id": "ENSP00000364885.2",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 810,
"cds_start": 621,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB17",
"gene_hgnc_id": 12936,
"hgvs_c": "c.621T>C",
"hgvs_p": "p.Ala207Ala",
"transcript": "NM_001287603.2",
"protein_id": "NP_001274532.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 810,
"cds_start": 621,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB17",
"gene_hgnc_id": 12936,
"hgvs_c": "c.432T>C",
"hgvs_p": "p.Ala144Ala",
"transcript": "NM_001324138.2",
"protein_id": "NP_001311067.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 740,
"cds_start": 432,
"cds_end": null,
"cds_length": 2223,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 2531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB17",
"gene_hgnc_id": 12936,
"hgvs_c": "c.393T>C",
"hgvs_p": "p.Ala131Ala",
"transcript": "NM_001287604.2",
"protein_id": "NP_001274533.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 727,
"cds_start": 393,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 2716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB17",
"gene_hgnc_id": 12936,
"hgvs_c": "c.393T>C",
"hgvs_p": "p.Ala131Ala",
"transcript": "NM_001324137.2",
"protein_id": "NP_001311066.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 727,
"cds_start": 393,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 2513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB17",
"gene_hgnc_id": 12936,
"hgvs_c": "c.375T>C",
"hgvs_p": "p.Ala125Ala",
"transcript": "NM_001242884.2",
"protein_id": "NP_001229813.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 721,
"cds_start": 375,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 2535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB17",
"gene_hgnc_id": 12936,
"hgvs_c": "c.375T>C",
"hgvs_p": "p.Ala125Ala",
"transcript": "ENST00000537142.5",
"protein_id": "ENSP00000438529.1",
"transcript_support_level": 2,
"aa_start": 125,
"aa_end": null,
"aa_length": 721,
"cds_start": 375,
"cds_end": null,
"cds_length": 2166,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB17",
"gene_hgnc_id": 12936,
"hgvs_c": "c.432T>C",
"hgvs_p": "p.Ala144Ala",
"transcript": "XM_005245986.3",
"protein_id": "XP_005246043.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 747,
"cds_start": 432,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 2552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB17",
"gene_hgnc_id": 12936,
"hgvs_c": "c.393T>C",
"hgvs_p": "p.Ala131Ala",
"transcript": "XM_011542085.4",
"protein_id": "XP_011540387.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 734,
"cds_start": 393,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 2534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB17",
"gene_hgnc_id": 12936,
"hgvs_c": "c.393T>C",
"hgvs_p": "p.Ala131Ala",
"transcript": "XM_047429978.1",
"protein_id": "XP_047285934.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 734,
"cds_start": 393,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB17",
"gene_hgnc_id": 12936,
"hgvs_c": "c.375T>C",
"hgvs_p": "p.Ala125Ala",
"transcript": "XM_011542087.4",
"protein_id": "XP_011540389.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 728,
"cds_start": 375,
"cds_end": null,
"cds_length": 2187,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 2556,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB17",
"gene_hgnc_id": 12936,
"hgvs_c": "n.451T>C",
"hgvs_p": null,
"transcript": "ENST00000464719.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 485,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB17",
"gene_hgnc_id": 12936,
"hgvs_c": "n.420T>C",
"hgvs_p": null,
"transcript": "ENST00000490899.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 675,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB17",
"gene_hgnc_id": 12936,
"hgvs_c": "n.330T>C",
"hgvs_p": null,
"transcript": "ENST00000492834.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZBTB17",
"gene_hgnc_id": 12936,
"hgvs_c": "n.*91T>C",
"hgvs_p": null,
"transcript": "ENST00000479282.5",
"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": 1054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"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": "ZBTB17",
"gene_hgnc_id": 12936,
"hgvs_c": "n.*178T>C",
"hgvs_p": null,
"transcript": "ENST00000494020.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZBTB17",
"gene_hgnc_id": 12936,
"dbsnp": "rs848217",
"frequency_reference_population": 0.5053597,
"hom_count_reference_population": 207476,
"allele_count_reference_population": 811446,
"gnomad_exomes_af": 0.505619,
"gnomad_genomes_af": 0.502876,
"gnomad_exomes_ac": 735040,
"gnomad_genomes_ac": 76406,
"gnomad_exomes_homalt": 187960,
"gnomad_genomes_homalt": 19516,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8199999928474426,
"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": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.811,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000375743.9",
"gene_symbol": "ZBTB17",
"hgnc_id": 12936,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.621T>C",
"hgvs_p": "p.Ala207Ala"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}