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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: 11-128484862-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=128484862&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 128484862,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001143820.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS1",
"gene_hgnc_id": 3488,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Ile",
"transcript": "NM_001143820.2",
"protein_id": "NP_001137292.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 485,
"cds_start": 823,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 5139,
"mane_select": "ENST00000392668.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS1",
"gene_hgnc_id": 3488,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Ile",
"transcript": "ENST00000392668.8",
"protein_id": "ENSP00000376436.3",
"transcript_support_level": 1,
"aa_start": 275,
"aa_end": null,
"aa_length": 485,
"cds_start": 823,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 5139,
"mane_select": "NM_001143820.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS1",
"gene_hgnc_id": 3488,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Ile",
"transcript": "ENST00000319397.7",
"protein_id": "ENSP00000324578.5",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 441,
"cds_start": 691,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 5238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS1",
"gene_hgnc_id": 3488,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Ile",
"transcript": "ENST00000531611.5",
"protein_id": "ENSP00000435666.1",
"transcript_support_level": 1,
"aa_start": 231,
"aa_end": null,
"aa_length": 272,
"cds_start": 691,
"cds_end": null,
"cds_length": 819,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 2134,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ETS1",
"gene_hgnc_id": 3488,
"hgvs_c": "c.83-4411G>A",
"hgvs_p": null,
"transcript": "ENST00000535549.5",
"protein_id": "ENSP00000441430.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 225,
"cds_start": -4,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS1",
"gene_hgnc_id": 3488,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Ile",
"transcript": "NM_005238.4",
"protein_id": "NP_005229.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 441,
"cds_start": 691,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 5238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS1",
"gene_hgnc_id": 3488,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Ile",
"transcript": "NM_001330451.2",
"protein_id": "NP_001317380.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 354,
"cds_start": 691,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 4977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS1",
"gene_hgnc_id": 3488,
"hgvs_c": "c.691G>A",
"hgvs_p": "p.Val231Ile",
"transcript": "ENST00000526145.6",
"protein_id": "ENSP00000433500.1",
"transcript_support_level": 5,
"aa_start": 231,
"aa_end": null,
"aa_length": 354,
"cds_start": 691,
"cds_end": null,
"cds_length": 1065,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS1",
"gene_hgnc_id": 3488,
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Val292Ile",
"transcript": "XM_047426525.1",
"protein_id": "XP_047282481.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 502,
"cds_start": 874,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1756,
"cdna_end": null,
"cdna_length": 5987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS1",
"gene_hgnc_id": 3488,
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Ile",
"transcript": "XM_017017314.2",
"protein_id": "XP_016872803.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 485,
"cds_start": 823,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 899,
"cdna_end": null,
"cdna_length": 5130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS1",
"gene_hgnc_id": 3488,
"hgvs_c": "c.793G>A",
"hgvs_p": "p.Val265Ile",
"transcript": "XM_011542650.2",
"protein_id": "XP_011540952.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 475,
"cds_start": 793,
"cds_end": null,
"cds_length": 1428,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 5340,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS1",
"gene_hgnc_id": 3488,
"hgvs_c": "c.718G>A",
"hgvs_p": "p.Val240Ile",
"transcript": "XM_017017315.3",
"protein_id": "XP_016872804.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 450,
"cds_start": 718,
"cds_end": null,
"cds_length": 1353,
"cdna_start": 825,
"cdna_end": null,
"cdna_length": 5056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS1",
"gene_hgnc_id": 3488,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Val208Ile",
"transcript": "XM_047426526.1",
"protein_id": "XP_047282482.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 418,
"cds_start": 622,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 9892,
"cdna_end": null,
"cdna_length": 14123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS1",
"gene_hgnc_id": 3488,
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Val292Ile",
"transcript": "XM_047426527.1",
"protein_id": "XP_047282483.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 415,
"cds_start": 874,
"cds_end": null,
"cds_length": 1248,
"cdna_start": 1756,
"cdna_end": null,
"cdna_length": 5726,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ETS1",
"gene_hgnc_id": 3488,
"hgvs_c": "c.83-4411G>A",
"hgvs_p": null,
"transcript": "NM_001162422.2",
"protein_id": "NP_001155894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 225,
"cds_start": -4,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ETS1",
"gene_hgnc_id": 3488,
"dbsnp": "rs137970618",
"frequency_reference_population": 0.000019208344,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000164182,
"gnomad_genomes_af": 0.0000460254,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1328372061252594,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.0828,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.217,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001143820.2",
"gene_symbol": "ETS1",
"hgnc_id": 3488,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}