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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: 11-78726217-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=78726217&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 78726217,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000278550.12",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM4",
"gene_hgnc_id": 29945,
"hgvs_c": "c.3412G>T",
"hgvs_p": "p.Val1138Leu",
"transcript": "NM_001098816.3",
"protein_id": "NP_001092286.2",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 2769,
"cds_start": 3412,
"cds_end": null,
"cds_length": 8310,
"cdna_start": 4254,
"cdna_end": null,
"cdna_length": 14381,
"mane_select": "ENST00000278550.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM4",
"gene_hgnc_id": 29945,
"hgvs_c": "c.3412G>T",
"hgvs_p": "p.Val1138Leu",
"transcript": "ENST00000278550.12",
"protein_id": "ENSP00000278550.7",
"transcript_support_level": 5,
"aa_start": 1138,
"aa_end": null,
"aa_length": 2769,
"cds_start": 3412,
"cds_end": null,
"cds_length": 8310,
"cdna_start": 4254,
"cdna_end": null,
"cdna_length": 14381,
"mane_select": "NM_001098816.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM4",
"gene_hgnc_id": 29945,
"hgvs_c": "c.3487G>T",
"hgvs_p": "p.Val1163Leu",
"transcript": "XM_017017525.2",
"protein_id": "XP_016873014.1",
"transcript_support_level": null,
"aa_start": 1163,
"aa_end": null,
"aa_length": 2794,
"cds_start": 3487,
"cds_end": null,
"cds_length": 8385,
"cdna_start": 4157,
"cdna_end": null,
"cdna_length": 14284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM4",
"gene_hgnc_id": 29945,
"hgvs_c": "c.3460G>T",
"hgvs_p": "p.Val1154Leu",
"transcript": "XM_047426736.1",
"protein_id": "XP_047282692.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 2785,
"cds_start": 3460,
"cds_end": null,
"cds_length": 8358,
"cdna_start": 4130,
"cdna_end": null,
"cdna_length": 14257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM4",
"gene_hgnc_id": 29945,
"hgvs_c": "c.3460G>T",
"hgvs_p": "p.Val1154Leu",
"transcript": "XM_047426737.1",
"protein_id": "XP_047282693.1",
"transcript_support_level": null,
"aa_start": 1154,
"aa_end": null,
"aa_length": 2778,
"cds_start": 3460,
"cds_end": null,
"cds_length": 8337,
"cdna_start": 4130,
"cdna_end": null,
"cdna_length": 14236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM4",
"gene_hgnc_id": 29945,
"hgvs_c": "c.3283G>T",
"hgvs_p": "p.Val1095Leu",
"transcript": "XM_047426738.1",
"protein_id": "XP_047282694.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 2726,
"cds_start": 3283,
"cds_end": null,
"cds_length": 8181,
"cdna_start": 3383,
"cdna_end": null,
"cdna_length": 13510,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM4",
"gene_hgnc_id": 29945,
"hgvs_c": "c.3289G>T",
"hgvs_p": "p.Val1097Leu",
"transcript": "XM_047426739.1",
"protein_id": "XP_047282695.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 2721,
"cds_start": 3289,
"cds_end": null,
"cds_length": 8166,
"cdna_start": 3959,
"cdna_end": null,
"cdna_length": 14065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM4",
"gene_hgnc_id": 29945,
"hgvs_c": "c.3256G>T",
"hgvs_p": "p.Val1086Leu",
"transcript": "XM_047426740.1",
"protein_id": "XP_047282696.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 2717,
"cds_start": 3256,
"cds_end": null,
"cds_length": 8154,
"cdna_start": 3356,
"cdna_end": null,
"cdna_length": 13483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM4",
"gene_hgnc_id": 29945,
"hgvs_c": "c.3256G>T",
"hgvs_p": "p.Val1086Leu",
"transcript": "XM_047426741.1",
"protein_id": "XP_047282697.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 2710,
"cds_start": 3256,
"cds_end": null,
"cds_length": 8133,
"cdna_start": 3356,
"cdna_end": null,
"cdna_length": 13462,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM4",
"gene_hgnc_id": 29945,
"hgvs_c": "c.3085G>T",
"hgvs_p": "p.Val1029Leu",
"transcript": "XM_047426742.1",
"protein_id": "XP_047282698.1",
"transcript_support_level": null,
"aa_start": 1029,
"aa_end": null,
"aa_length": 2660,
"cds_start": 3085,
"cds_end": null,
"cds_length": 7983,
"cdna_start": 3185,
"cdna_end": null,
"cdna_length": 13312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TENM4",
"gene_hgnc_id": 29945,
"hgvs_c": "c.856G>T",
"hgvs_p": "p.Val286Leu",
"transcript": "XM_011544933.4",
"protein_id": "XP_011543235.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 1917,
"cds_start": 856,
"cds_end": null,
"cds_length": 5754,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 11103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TENM4",
"gene_hgnc_id": 29945,
"dbsnp": "rs538881762",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8464069366455078,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.776,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7789,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.44,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000278550.12",
"gene_symbol": "TENM4",
"hgnc_id": 29945,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3412G>T",
"hgvs_p": "p.Val1138Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}