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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: 12-11869573-CT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=11869573&ref=CT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 11869573,
"ref": "CT",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000396373.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.614delT",
"hgvs_p": "p.Leu205fs",
"transcript": "NM_001987.5",
"protein_id": "NP_001978.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 452,
"cds_start": 614,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 6144,
"mane_select": "ENST00000396373.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.614delT",
"hgvs_p": "p.Leu205fs",
"transcript": "ENST00000396373.9",
"protein_id": "ENSP00000379658.3",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 452,
"cds_start": 614,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 6144,
"mane_select": "NM_001987.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.611delT",
"hgvs_p": "p.Leu204fs",
"transcript": "NM_001413913.1",
"protein_id": "NP_001400842.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 451,
"cds_start": 611,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 6141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "NM_001413914.1",
"protein_id": "NP_001400843.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 443,
"cds_start": 587,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 6269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.350delT",
"hgvs_p": "p.Leu117fs",
"transcript": "NM_001413915.1",
"protein_id": "NP_001400844.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 364,
"cds_start": 350,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 6014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.614delT",
"hgvs_p": "p.Leu205fs",
"transcript": "NM_001413916.1",
"protein_id": "NP_001400845.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 338,
"cds_start": 614,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 3127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.614delT",
"hgvs_p": "p.Leu205fs",
"transcript": "NM_001413917.1",
"protein_id": "NP_001400846.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 338,
"cds_start": 614,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 5900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.587delT",
"hgvs_p": "p.Leu196fs",
"transcript": "XM_047428502.1",
"protein_id": "XP_047284458.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 443,
"cds_start": 587,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 12648,
"cdna_end": null,
"cdna_length": 17724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.479delT",
"hgvs_p": "p.Leu160fs",
"transcript": "XM_017018990.2",
"protein_id": "XP_016874479.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 407,
"cds_start": 479,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 6009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.350delT",
"hgvs_p": "p.Leu117fs",
"transcript": "XM_017018991.2",
"protein_id": "XP_016874480.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 364,
"cds_start": 350,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1972,
"cdna_end": null,
"cdna_length": 7048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.350delT",
"hgvs_p": "p.Leu117fs",
"transcript": "XM_047428503.1",
"protein_id": "XP_047284459.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 364,
"cds_start": 350,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1902,
"cdna_end": null,
"cdna_length": 6978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.350delT",
"hgvs_p": "p.Leu117fs",
"transcript": "XM_047428504.1",
"protein_id": "XP_047284460.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 364,
"cds_start": 350,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 6973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"hgvs_c": "c.-8delT",
"hgvs_p": null,
"transcript": "XM_011520612.3",
"protein_id": "XP_011518914.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 245,
"cds_start": -4,
"cds_end": null,
"cds_length": 738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ETV6",
"gene_hgnc_id": 3495,
"dbsnp": "rs1555144911",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.556,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000396373.9",
"gene_symbol": "ETV6",
"hgnc_id": 3495,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.614delT",
"hgvs_p": "p.Leu205fs"
}
],
"clinvar_disease": "Thrombocytopenia 5",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Thrombocytopenia 5",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}