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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: 6-7373123-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=7373123&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 7373123,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001170692.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAGE1",
"gene_hgnc_id": 21622,
"hgvs_c": "c.1696G>C",
"hgvs_p": "p.Ala566Pro",
"transcript": "NM_001170692.2",
"protein_id": "NP_001164163.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 839,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000502583.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170692.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAGE1",
"gene_hgnc_id": 21622,
"hgvs_c": "c.1696G>C",
"hgvs_p": "p.Ala566Pro",
"transcript": "ENST00000502583.6",
"protein_id": "ENSP00000425493.1",
"transcript_support_level": 5,
"aa_start": 566,
"aa_end": null,
"aa_length": 839,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001170692.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000502583.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAGE1",
"gene_hgnc_id": 21622,
"hgvs_c": "c.1696G>C",
"hgvs_p": "p.Ala566Pro",
"transcript": "ENST00000338150.8",
"protein_id": "ENSP00000338107.4",
"transcript_support_level": 2,
"aa_start": 566,
"aa_end": null,
"aa_length": 824,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338150.8"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAGE1",
"gene_hgnc_id": 21622,
"hgvs_c": "c.1696G>C",
"hgvs_p": "p.Ala566Pro",
"transcript": "ENST00000379918.8",
"protein_id": "ENSP00000369250.4",
"transcript_support_level": 5,
"aa_start": 566,
"aa_end": null,
"aa_length": 817,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379918.8"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAGE1",
"gene_hgnc_id": 21622,
"hgvs_c": "c.1696G>C",
"hgvs_p": "p.Ala566Pro",
"transcript": "ENST00000512086.5",
"protein_id": "ENSP00000427583.1",
"transcript_support_level": 5,
"aa_start": 566,
"aa_end": null,
"aa_length": 777,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512086.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAGE1",
"gene_hgnc_id": 21622,
"hgvs_c": "c.1288G>C",
"hgvs_p": "p.Ala430Pro",
"transcript": "ENST00000296742.11",
"protein_id": "ENSP00000296742.7",
"transcript_support_level": 1,
"aa_start": 430,
"aa_end": null,
"aa_length": 641,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296742.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAGE1",
"gene_hgnc_id": 21622,
"hgvs_c": "n.*962G>C",
"hgvs_p": null,
"transcript": "ENST00000442019.6",
"protein_id": "ENSP00000391746.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000442019.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAGE1",
"gene_hgnc_id": 21622,
"hgvs_c": "n.1696G>C",
"hgvs_p": null,
"transcript": "ENST00000458291.6",
"protein_id": "ENSP00000390644.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000458291.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAGE1",
"gene_hgnc_id": 21622,
"hgvs_c": "n.*962G>C",
"hgvs_p": null,
"transcript": "ENST00000442019.6",
"protein_id": "ENSP00000391746.2",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000442019.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAGE1",
"gene_hgnc_id": 21622,
"hgvs_c": "c.1696G>C",
"hgvs_p": "p.Ala566Pro",
"transcript": "NM_001170693.2",
"protein_id": "NP_001164164.1",
"transcript_support_level": null,
"aa_start": 566,
"aa_end": null,
"aa_length": 824,
"cds_start": 1696,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170693.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAGE1",
"gene_hgnc_id": 21622,
"hgvs_c": "c.1288G>C",
"hgvs_p": "p.Ala430Pro",
"transcript": "NM_205864.3",
"protein_id": "NP_995586.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 641,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_205864.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"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": "CAGE1",
"gene_hgnc_id": 21622,
"hgvs_c": "c.*58G>C",
"hgvs_p": null,
"transcript": "ENST00000512691.1",
"protein_id": "ENSP00000423789.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": null,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000512691.1"
}
],
"gene_symbol": "CAGE1",
"gene_hgnc_id": 21622,
"dbsnp": "rs200653577",
"frequency_reference_population": 0.0000037204456,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.0000034235,
"gnomad_genomes_af": 0.00000656961,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1352267861366272,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.197,
"revel_prediction": "Benign",
"alphamissense_score": 0.2828,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.363,
"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": 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_001170692.2",
"gene_symbol": "CAGE1",
"hgnc_id": 21622,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1696G>C",
"hgvs_p": "p.Ala566Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}