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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: 2-135844626-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=135844626&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 135844626,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_005915.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "c.2268C>A",
"hgvs_p": "p.Ile756Ile",
"transcript": "NM_005915.6",
"protein_id": "NP_005906.2",
"transcript_support_level": null,
"aa_start": 756,
"aa_end": null,
"aa_length": 821,
"cds_start": 2268,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264156.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005915.6"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "c.2268C>A",
"hgvs_p": "p.Ile756Ile",
"transcript": "ENST00000264156.3",
"protein_id": "ENSP00000264156.2",
"transcript_support_level": 1,
"aa_start": 756,
"aa_end": null,
"aa_length": 821,
"cds_start": 2268,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005915.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264156.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "c.2265C>A",
"hgvs_p": "p.Ile755Ile",
"transcript": "ENST00000884967.1",
"protein_id": "ENSP00000555026.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 820,
"cds_start": 2265,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884967.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "c.2265C>A",
"hgvs_p": "p.Ile755Ile",
"transcript": "ENST00000939153.1",
"protein_id": "ENSP00000609212.1",
"transcript_support_level": null,
"aa_start": 755,
"aa_end": null,
"aa_length": 820,
"cds_start": 2265,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939153.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "c.2256C>A",
"hgvs_p": "p.Ile752Ile",
"transcript": "ENST00000943623.1",
"protein_id": "ENSP00000613682.1",
"transcript_support_level": null,
"aa_start": 752,
"aa_end": null,
"aa_length": 817,
"cds_start": 2256,
"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": "ENST00000943623.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "c.2157C>A",
"hgvs_p": "p.Ile719Ile",
"transcript": "ENST00000939152.1",
"protein_id": "ENSP00000609211.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 784,
"cds_start": 2157,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939152.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "c.2121C>A",
"hgvs_p": "p.Ile707Ile",
"transcript": "ENST00000884968.1",
"protein_id": "ENSP00000555027.1",
"transcript_support_level": null,
"aa_start": 707,
"aa_end": null,
"aa_length": 772,
"cds_start": 2121,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884968.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "c.2112C>A",
"hgvs_p": "p.Ile704Ile",
"transcript": "ENST00000939154.1",
"protein_id": "ENSP00000609213.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 769,
"cds_start": 2112,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939154.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "c.2112C>A",
"hgvs_p": "p.Ile704Ile",
"transcript": "ENST00000939155.1",
"protein_id": "ENSP00000609214.1",
"transcript_support_level": null,
"aa_start": 704,
"aa_end": null,
"aa_length": 769,
"cds_start": 2112,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939155.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "c.2106C>A",
"hgvs_p": "p.Ile702Ile",
"transcript": "ENST00000939156.1",
"protein_id": "ENSP00000609215.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 767,
"cds_start": 2106,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939156.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "c.1971C>A",
"hgvs_p": "p.Ile657Ile",
"transcript": "ENST00000943622.1",
"protein_id": "ENSP00000613681.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 722,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943622.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "n.694C>A",
"hgvs_p": null,
"transcript": "ENST00000492091.1",
"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": "ENST00000492091.1"
}
],
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"dbsnp": "rs4988270",
"frequency_reference_population": 6.974707e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.97471e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6399999856948853,
"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": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.955,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_005915.6",
"gene_symbol": "MCM6",
"hgnc_id": 6949,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2268C>A",
"hgvs_p": "p.Ile756Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}