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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: 19-40610549-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40610549&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 40610549,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000396819.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1702C>G",
"hgvs_p": "p.Arg568Gly",
"transcript": "NM_001042545.2",
"protein_id": "NP_001036010.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 1557,
"cds_start": 1702,
"cds_end": null,
"cds_length": 4674,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 4961,
"mane_select": "ENST00000396819.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1702C>G",
"hgvs_p": "p.Arg568Gly",
"transcript": "ENST00000396819.8",
"protein_id": "ENSP00000380031.5",
"transcript_support_level": 1,
"aa_start": 568,
"aa_end": null,
"aa_length": 1557,
"cds_start": 1702,
"cds_end": null,
"cds_length": 4674,
"cdna_start": 1721,
"cdna_end": null,
"cdna_length": 4961,
"mane_select": "NM_001042545.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1903C>G",
"hgvs_p": "p.Arg635Gly",
"transcript": "ENST00000308370.11",
"protein_id": "ENSP00000311905.8",
"transcript_support_level": 1,
"aa_start": 635,
"aa_end": null,
"aa_length": 1624,
"cds_start": 1903,
"cds_end": null,
"cds_length": 4875,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 4948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1792C>G",
"hgvs_p": "p.Arg598Gly",
"transcript": "ENST00000204005.13",
"protein_id": "ENSP00000204005.10",
"transcript_support_level": 1,
"aa_start": 598,
"aa_end": null,
"aa_length": 1587,
"cds_start": 1792,
"cds_end": null,
"cds_length": 4764,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 5032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1903C>G",
"hgvs_p": "p.Arg635Gly",
"transcript": "NM_001042544.1",
"protein_id": "NP_001036009.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 1624,
"cds_start": 1903,
"cds_end": null,
"cds_length": 4875,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 5145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.1792C>G",
"hgvs_p": "p.Arg598Gly",
"transcript": "NM_003573.2",
"protein_id": "NP_003564.2",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 1587,
"cds_start": 1792,
"cds_end": null,
"cds_length": 4764,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 5034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "c.142C>G",
"hgvs_p": "p.Arg48Gly",
"transcript": "ENST00000243562.13",
"protein_id": "ENSP00000243562.10",
"transcript_support_level": 2,
"aa_start": 48,
"aa_end": null,
"aa_length": 956,
"cds_start": 142,
"cds_end": null,
"cds_length": 2871,
"cdna_start": 144,
"cdna_end": null,
"cdna_length": 3140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "n.382C>G",
"hgvs_p": null,
"transcript": "ENST00000546155.5",
"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": 1285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "n.337C>G",
"hgvs_p": null,
"transcript": "ENST00000598256.1",
"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": 752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "n.429-825C>G",
"hgvs_p": null,
"transcript": "ENST00000598717.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"hgvs_c": "n.-216C>G",
"hgvs_p": null,
"transcript": "ENST00000598055.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LTBP4",
"gene_hgnc_id": 6717,
"dbsnp": "rs33937741",
"frequency_reference_population": 0.04174978,
"hom_count_reference_population": 1658,
"allele_count_reference_population": 66518,
"gnomad_exomes_af": 0.0431199,
"gnomad_genomes_af": 0.0287885,
"gnomad_exomes_ac": 62133,
"gnomad_genomes_ac": 4385,
"gnomad_exomes_homalt": 1576,
"gnomad_genomes_homalt": 82,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003421694040298462,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.251,
"revel_prediction": "Benign",
"alphamissense_score": 0.1232,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.126,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000396819.8",
"gene_symbol": "LTBP4",
"hgnc_id": 6717,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1702C>G",
"hgvs_p": "p.Arg568Gly"
}
],
"clinvar_disease": " gastrointestinal and urinary anomalies,Cutis laxa with severe pulmonary,LTBP4-related disorder,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies|not specified|not provided|LTBP4-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}