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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: 11-555317-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=555317&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 555317,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_173573.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNTD2",
"gene_hgnc_id": 28561,
"hgvs_c": "c.1761A>G",
"hgvs_p": "p.Glu587Glu",
"transcript": "NM_173573.3",
"protein_id": "NP_775844.2",
"transcript_support_level": null,
"aa_start": 587,
"aa_end": null,
"aa_length": 634,
"cds_start": 1761,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": "ENST00000329451.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173573.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNTD2",
"gene_hgnc_id": 28561,
"hgvs_c": "c.1761A>G",
"hgvs_p": "p.Glu587Glu",
"transcript": "ENST00000329451.8",
"protein_id": "ENSP00000331167.3",
"transcript_support_level": 1,
"aa_start": 587,
"aa_end": null,
"aa_length": 634,
"cds_start": 1761,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1783,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": "NM_173573.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000329451.8"
},
{
"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": "LMNTD2",
"gene_hgnc_id": 28561,
"hgvs_c": "n.963A>G",
"hgvs_p": null,
"transcript": "ENST00000469990.1",
"protein_id": null,
"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": 1232,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000469990.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNTD2",
"gene_hgnc_id": 28561,
"hgvs_c": "c.1776A>G",
"hgvs_p": "p.Glu592Glu",
"transcript": "ENST00000886189.1",
"protein_id": "ENSP00000556248.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 639,
"cds_start": 1776,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1798,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886189.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNTD2",
"gene_hgnc_id": 28561,
"hgvs_c": "c.1722A>G",
"hgvs_p": "p.Glu574Glu",
"transcript": "ENST00000886190.1",
"protein_id": "ENSP00000556249.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 621,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1726,
"cdna_end": null,
"cdna_length": 1994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886190.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNTD2",
"gene_hgnc_id": 28561,
"hgvs_c": "c.1980A>G",
"hgvs_p": "p.Glu660Glu",
"transcript": "XM_011519965.3",
"protein_id": "XP_011518267.2",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 707,
"cds_start": 1980,
"cds_end": null,
"cds_length": 2124,
"cdna_start": 3134,
"cdna_end": null,
"cdna_length": 3408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519965.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNTD2",
"gene_hgnc_id": 28561,
"hgvs_c": "c.1965A>G",
"hgvs_p": "p.Glu655Glu",
"transcript": "XM_047426712.1",
"protein_id": "XP_047282668.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 702,
"cds_start": 1965,
"cds_end": null,
"cds_length": 2109,
"cdna_start": 3119,
"cdna_end": null,
"cdna_length": 3393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426712.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNTD2",
"gene_hgnc_id": 28561,
"hgvs_c": "c.1860A>G",
"hgvs_p": "p.Glu620Glu",
"transcript": "XM_011519967.3",
"protein_id": "XP_011518269.2",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 667,
"cds_start": 1860,
"cds_end": null,
"cds_length": 2004,
"cdna_start": 3014,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011519967.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNTD2",
"gene_hgnc_id": 28561,
"hgvs_c": "c.1776A>G",
"hgvs_p": "p.Glu592Glu",
"transcript": "XM_047426713.1",
"protein_id": "XP_047282669.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 639,
"cds_start": 1776,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1798,
"cdna_end": null,
"cdna_length": 2072,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426713.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNTD2",
"gene_hgnc_id": 28561,
"hgvs_c": "c.*67A>G",
"hgvs_p": null,
"transcript": "XM_017017479.3",
"protein_id": "XP_016872968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 630,
"cds_start": null,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017479.3"
}
],
"gene_symbol": "LMNTD2",
"gene_hgnc_id": 28561,
"dbsnp": "rs143504198",
"frequency_reference_population": 0.007817436,
"hom_count_reference_population": 57,
"allele_count_reference_population": 11087,
"gnomad_exomes_af": 0.0077412,
"gnomad_genomes_af": 0.00845423,
"gnomad_exomes_ac": 9805,
"gnomad_genomes_ac": 1282,
"gnomad_exomes_homalt": 45,
"gnomad_genomes_homalt": 12,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8999999761581421,
"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": -0.9,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.005,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_173573.3",
"gene_symbol": "LMNTD2",
"hgnc_id": 28561,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1761A>G",
"hgvs_p": "p.Glu587Glu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}