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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: X-124999772-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=124999772&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 124999772,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000422452.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TENM1",
"gene_hgnc_id": 8117,
"hgvs_c": "c.-64-35955C>T",
"hgvs_p": null,
"transcript": "NM_001163278.2",
"protein_id": "NP_001156750.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2732,
"cds_start": -4,
"cds_end": null,
"cds_length": 8199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13547,
"mane_select": "ENST00000422452.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TENM1",
"gene_hgnc_id": 8117,
"hgvs_c": "c.-64-35955C>T",
"hgvs_p": null,
"transcript": "ENST00000422452.4",
"protein_id": "ENSP00000403954.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2732,
"cds_start": -4,
"cds_end": null,
"cds_length": 8199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13547,
"mane_select": "NM_001163278.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TENM1",
"gene_hgnc_id": 8117,
"hgvs_c": "c.-64-35955C>T",
"hgvs_p": null,
"transcript": "XM_017029208.3",
"protein_id": "XP_016884697.1",
"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": 13646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TENM1",
"gene_hgnc_id": 8117,
"hgvs_c": "c.-119-16423C>T",
"hgvs_p": null,
"transcript": "XM_017029209.3",
"protein_id": "XP_016884698.1",
"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": 13701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TENM1",
"gene_hgnc_id": 8117,
"hgvs_c": "c.-64-35955C>T",
"hgvs_p": null,
"transcript": "XM_017029210.3",
"protein_id": "XP_016884699.1",
"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": 13571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TENM1",
"gene_hgnc_id": 8117,
"hgvs_c": "c.-65+25795C>T",
"hgvs_p": null,
"transcript": "XM_017029211.3",
"protein_id": "XP_016884700.1",
"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": 13652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TENM1",
"gene_hgnc_id": 8117,
"hgvs_c": "c.-64-35955C>T",
"hgvs_p": null,
"transcript": "XM_017029213.3",
"protein_id": "XP_016884702.1",
"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": 13575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "TENM1",
"gene_hgnc_id": 8117,
"hgvs_c": "c.-65+25795C>T",
"hgvs_p": null,
"transcript": "XM_047441759.1",
"protein_id": "XP_047297715.1",
"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": 13727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TENM1",
"gene_hgnc_id": 8117,
"hgvs_c": "c.-64-35955C>T",
"hgvs_p": null,
"transcript": "XM_017029214.3",
"protein_id": "XP_016884703.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2725,
"cds_start": -4,
"cds_end": null,
"cds_length": 8178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TENM1",
"gene_hgnc_id": 8117,
"hgvs_c": "c.-64-35955C>T",
"hgvs_p": null,
"transcript": "XM_047441760.1",
"protein_id": "XP_047297716.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2717,
"cds_start": -4,
"cds_end": null,
"cds_length": 8154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TENM1",
"gene_hgnc_id": 8117,
"hgvs_c": "c.-64-35955C>T",
"hgvs_p": null,
"transcript": "XM_017029215.3",
"protein_id": "XP_016884704.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1246,
"cds_start": -4,
"cds_end": null,
"cds_length": 3741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TENM1",
"gene_hgnc_id": 8117,
"hgvs_c": "c.-64-35955C>T",
"hgvs_p": null,
"transcript": "XM_017029216.3",
"protein_id": "XP_016884705.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1239,
"cds_start": -4,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TENM1",
"gene_hgnc_id": 8117,
"dbsnp": "rs1894516",
"frequency_reference_population": 0.41763875,
"hom_count_reference_population": 21191,
"allele_count_reference_population": 45863,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.417639,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 45863,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 8155,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.36000001430511475,
"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": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.278,
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BA1",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 10,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000422452.4",
"gene_symbol": "TENM1",
"hgnc_id": 8117,
"effects": [
"intron_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.-64-35955C>T",
"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
}