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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: 14-55138217-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=55138217&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 55138217,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000254301.14",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS3",
"gene_hgnc_id": 6563,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "NM_002306.4",
"protein_id": "NP_002297.2",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 250,
"cds_start": 191,
"cds_end": null,
"cds_length": 753,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 958,
"mane_select": "ENST00000254301.14",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS3",
"gene_hgnc_id": 6563,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "ENST00000254301.14",
"protein_id": "ENSP00000254301.9",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 250,
"cds_start": 191,
"cds_end": null,
"cds_length": 753,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 958,
"mane_select": "NM_002306.4",
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS3",
"gene_hgnc_id": 6563,
"hgvs_c": "n.1030C>A",
"hgvs_p": null,
"transcript": "ENST00000556438.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 1734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS3",
"gene_hgnc_id": 6563,
"hgvs_c": "c.233C>A",
"hgvs_p": "p.Pro78His",
"transcript": "NM_001357678.2",
"protein_id": "NP_001344607.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 264,
"cds_start": 233,
"cds_end": null,
"cds_length": 795,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS3",
"gene_hgnc_id": 6563,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "ENST00000554715.1",
"protein_id": "ENSP00000451381.1",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
"aa_length": 233,
"cds_start": 191,
"cds_end": null,
"cds_length": 702,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 916,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS3",
"gene_hgnc_id": 6563,
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His",
"transcript": "ENST00000553493.5",
"protein_id": "ENSP00000451526.1",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
"aa_length": 87,
"cds_start": 191,
"cds_end": null,
"cds_length": 266,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 319,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS3",
"gene_hgnc_id": 6563,
"hgvs_c": "n.218C>A",
"hgvs_p": null,
"transcript": "ENST00000553755.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 630,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS3",
"gene_hgnc_id": 6563,
"hgvs_c": "n.174C>A",
"hgvs_p": null,
"transcript": "ENST00000556263.1",
"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": 491,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS3",
"gene_hgnc_id": 6563,
"hgvs_c": "n.264C>A",
"hgvs_p": null,
"transcript": "ENST00000556322.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 599,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS3",
"gene_hgnc_id": 6563,
"hgvs_c": "n.1235C>A",
"hgvs_p": null,
"transcript": "NR_003225.2",
"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": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "LGALS3",
"gene_hgnc_id": 6563,
"dbsnp": "rs4644",
"frequency_reference_population": 0.38926953,
"hom_count_reference_population": 125766,
"allele_count_reference_population": 627898,
"gnomad_exomes_af": 0.392601,
"gnomad_genomes_af": 0.357242,
"gnomad_exomes_ac": 573600,
"gnomad_genomes_ac": 54298,
"gnomad_exomes_homalt": 115508,
"gnomad_genomes_homalt": 10258,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0030170083045959473,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.176,
"revel_prediction": "Benign",
"alphamissense_score": 0.4155,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.614,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000254301.14",
"gene_symbol": "LGALS3",
"hgnc_id": 6563,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.191C>A",
"hgvs_p": "p.Pro64His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}