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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: 1-150577455-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150577455&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 150577455,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000369026.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCL1",
"gene_hgnc_id": 6943,
"hgvs_c": "c.973G>C",
"hgvs_p": "p.Glu325Gln",
"transcript": "NM_021960.5",
"protein_id": "NP_068779.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 350,
"cds_start": 973,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": "ENST00000369026.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCL1",
"gene_hgnc_id": 6943,
"hgvs_c": "c.973G>C",
"hgvs_p": "p.Glu325Gln",
"transcript": "ENST00000369026.3",
"protein_id": "ENSP00000358022.2",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 350,
"cds_start": 973,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": "NM_021960.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCL1",
"gene_hgnc_id": 6943,
"hgvs_c": "c.725G>C",
"hgvs_p": "p.Arg242Thr",
"transcript": "ENST00000307940.3",
"protein_id": "ENSP00000309973.3",
"transcript_support_level": 1,
"aa_start": 242,
"aa_end": null,
"aa_length": 271,
"cds_start": 725,
"cds_end": null,
"cds_length": 816,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 1110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCL1",
"gene_hgnc_id": 6943,
"hgvs_c": "c.514G>C",
"hgvs_p": "p.Glu172Gln",
"transcript": "ENST00000620947.4",
"protein_id": "ENSP00000477624.1",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 197,
"cds_start": 514,
"cds_end": null,
"cds_length": 594,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCL1",
"gene_hgnc_id": 6943,
"hgvs_c": "c.973G>C",
"hgvs_p": "p.Glu325Gln",
"transcript": "ENST00000678770.1",
"protein_id": "ENSP00000502859.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 350,
"cds_start": 973,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1053,
"cdna_end": null,
"cdna_length": 1256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCL1",
"gene_hgnc_id": 6943,
"hgvs_c": "c.725G>C",
"hgvs_p": "p.Arg242Thr",
"transcript": "NM_182763.3",
"protein_id": "NP_877495.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 271,
"cds_start": 725,
"cds_end": null,
"cds_length": 816,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 3702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCL1",
"gene_hgnc_id": 6943,
"hgvs_c": "c.514G>C",
"hgvs_p": "p.Glu172Gln",
"transcript": "NM_001197320.2",
"protein_id": "NP_001184249.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 197,
"cds_start": 514,
"cds_end": null,
"cds_length": 594,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 3491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCL1",
"gene_hgnc_id": 6943,
"hgvs_c": "c.379G>C",
"hgvs_p": "p.Glu127Gln",
"transcript": "ENST00000678610.1",
"protein_id": "ENSP00000503149.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 152,
"cds_start": 379,
"cds_end": null,
"cds_length": 459,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 3801,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCL1",
"gene_hgnc_id": 6943,
"hgvs_c": "n.1271G>C",
"hgvs_p": null,
"transcript": "ENST00000464132.2",
"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": 4550,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MCL1",
"gene_hgnc_id": 6943,
"hgvs_c": "n.1789G>C",
"hgvs_p": null,
"transcript": "ENST00000676522.1",
"protein_id": null,
"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": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MCL1",
"gene_hgnc_id": 6943,
"dbsnp": "rs12036617",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.42863595485687256,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.191,
"revel_prediction": "Benign",
"alphamissense_score": 0.9263,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.811,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000369026.3",
"gene_symbol": "MCL1",
"hgnc_id": 6943,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.973G>C",
"hgvs_p": "p.Glu325Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}