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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: 5-167008476-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=167008476&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 167008476,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000518659.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.-190+28953G>A",
"hgvs_p": null,
"transcript": "NM_001395460.1",
"protein_id": "NP_001382389.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2774,
"cds_start": -4,
"cds_end": null,
"cds_length": 8325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10356,
"mane_select": "ENST00000518659.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.-190+28953G>A",
"hgvs_p": null,
"transcript": "ENST00000518659.6",
"protein_id": "ENSP00000429430.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2774,
"cds_start": -4,
"cds_end": null,
"cds_length": 8325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10356,
"mane_select": "NM_001395460.1",
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "n.463+28953G>A",
"hgvs_p": null,
"transcript": "ENST00000695884.1",
"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": 5559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.-190+28953G>A",
"hgvs_p": null,
"transcript": "XM_017009661.2",
"protein_id": "XP_016865150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2767,
"cds_start": -4,
"cds_end": null,
"cds_length": 8304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.-190+28953G>A",
"hgvs_p": null,
"transcript": "XM_005265950.3",
"protein_id": "XP_005266007.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2765,
"cds_start": -4,
"cds_end": null,
"cds_length": 8298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.-269-15888G>A",
"hgvs_p": null,
"transcript": "XM_047417418.1",
"protein_id": "XP_047273374.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2758,
"cds_start": -4,
"cds_end": null,
"cds_length": 8277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.-190+28953G>A",
"hgvs_p": null,
"transcript": "XM_017009662.2",
"protein_id": "XP_016865151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2704,
"cds_start": -4,
"cds_end": null,
"cds_length": 8115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.-190+28953G>A",
"hgvs_p": null,
"transcript": "XM_011534604.3",
"protein_id": "XP_011532906.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2703,
"cds_start": -4,
"cds_end": null,
"cds_length": 8112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.-190+28953G>A",
"hgvs_p": null,
"transcript": "XM_047417419.1",
"protein_id": "XP_047273375.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2697,
"cds_start": -4,
"cds_end": null,
"cds_length": 8094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.-190+28953G>A",
"hgvs_p": null,
"transcript": "XM_047417420.1",
"protein_id": "XP_047273376.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2696,
"cds_start": -4,
"cds_end": null,
"cds_length": 8091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"dbsnp": "rs1501802",
"frequency_reference_population": 0.32751608,
"hom_count_reference_population": 8920,
"allele_count_reference_population": 49770,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.327516,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 49770,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 8920,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8899999856948853,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.89,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.17,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"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": "ENST00000518659.6",
"gene_symbol": "TENM2",
"hgnc_id": 29943,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-190+28953G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}