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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: 2-135846356-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=135846356&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 135846356,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005915.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "c.2090A>G",
"hgvs_p": "p.Asn697Ser",
"transcript": "NM_005915.6",
"protein_id": "NP_005906.2",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 821,
"cds_start": 2090,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": "ENST00000264156.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005915.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "c.2090A>G",
"hgvs_p": "p.Asn697Ser",
"transcript": "ENST00000264156.3",
"protein_id": "ENSP00000264156.2",
"transcript_support_level": 1,
"aa_start": 697,
"aa_end": null,
"aa_length": 821,
"cds_start": 2090,
"cds_end": null,
"cds_length": 2466,
"cdna_start": 2168,
"cdna_end": null,
"cdna_length": 3753,
"mane_select": "NM_005915.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264156.3"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "c.2090A>G",
"hgvs_p": "p.Asn697Ser",
"transcript": "ENST00000884967.1",
"protein_id": "ENSP00000555026.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 820,
"cds_start": 2090,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 2923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884967.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "c.2087A>G",
"hgvs_p": "p.Asn696Ser",
"transcript": "ENST00000939153.1",
"protein_id": "ENSP00000609212.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 820,
"cds_start": 2087,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 2196,
"cdna_end": null,
"cdna_length": 2965,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939153.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "c.2078A>G",
"hgvs_p": "p.Asn693Ser",
"transcript": "ENST00000943623.1",
"protein_id": "ENSP00000613682.1",
"transcript_support_level": null,
"aa_start": 693,
"aa_end": null,
"aa_length": 817,
"cds_start": 2078,
"cds_end": null,
"cds_length": 2454,
"cdna_start": 2148,
"cdna_end": null,
"cdna_length": 2912,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943623.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "c.1979A>G",
"hgvs_p": "p.Asn660Ser",
"transcript": "ENST00000939152.1",
"protein_id": "ENSP00000609211.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 784,
"cds_start": 1979,
"cds_end": null,
"cds_length": 2355,
"cdna_start": 2093,
"cdna_end": null,
"cdna_length": 2861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939152.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "c.1943A>G",
"hgvs_p": "p.Asn648Ser",
"transcript": "ENST00000884968.1",
"protein_id": "ENSP00000555027.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 772,
"cds_start": 1943,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2011,
"cdna_end": null,
"cdna_length": 2776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884968.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "c.1934A>G",
"hgvs_p": "p.Asn645Ser",
"transcript": "ENST00000939155.1",
"protein_id": "ENSP00000609214.1",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 769,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2016,
"cdna_end": null,
"cdna_length": 2785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939155.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "c.1928A>G",
"hgvs_p": "p.Asn643Ser",
"transcript": "ENST00000939156.1",
"protein_id": "ENSP00000609215.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 767,
"cds_start": 1928,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 1975,
"cdna_end": null,
"cdna_length": 2739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939156.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "c.1793A>G",
"hgvs_p": "p.Asn598Ser",
"transcript": "ENST00000943622.1",
"protein_id": "ENSP00000613681.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 722,
"cds_start": 1793,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 2659,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943622.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "c.2054-1672A>G",
"hgvs_p": null,
"transcript": "ENST00000939154.1",
"protein_id": "ENSP00000609213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 769,
"cds_start": null,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939154.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "MCM6",
"gene_hgnc_id": 6949,
"hgvs_c": "n.516A>G",
"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": 712,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000492091.1"
}
],
"gene_symbol": "MCM6",
"gene_hgnc_id": 6949,
"dbsnp": "rs560524153",
"frequency_reference_population": 0.000018586716,
"hom_count_reference_population": 0,
"allele_count_reference_population": 30,
"gnomad_exomes_af": 0.0000184695,
"gnomad_genomes_af": 0.0000197125,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0749674141407013,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.105,
"revel_prediction": "Benign",
"alphamissense_score": 0.0686,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.642,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_005915.6",
"gene_symbol": "MCM6",
"hgnc_id": 6949,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2090A>G",
"hgvs_p": "p.Asn697Ser"
}
],
"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
}