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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: 21-38814278-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=38814278&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 38814278,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000360938.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Ala64Thr",
"transcript": "NM_005239.6",
"protein_id": "NP_005230.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 469,
"cds_start": 190,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": "ENST00000360938.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Ala64Thr",
"transcript": "ENST00000360938.8",
"protein_id": "ENSP00000354194.3",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 469,
"cds_start": 190,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 3668,
"mane_select": "NM_005239.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Ala204Thr",
"transcript": "NM_001256295.2",
"protein_id": "NP_001243224.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 609,
"cds_start": 610,
"cds_end": null,
"cds_length": 1830,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 4060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Ala64Thr",
"transcript": "ENST00000667466.1",
"protein_id": "ENSP00000499540.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 504,
"cds_start": 190,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 3788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Ala64Thr",
"transcript": "ENST00000360214.8",
"protein_id": "ENSP00000353344.3",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 469,
"cds_start": 190,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 4060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Ala64Thr",
"transcript": "ENST00000653642.1",
"protein_id": "ENSP00000499315.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 469,
"cds_start": 190,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 3619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Ala64Thr",
"transcript": "ENST00000662305.1",
"protein_id": "ENSP00000499226.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 469,
"cds_start": 190,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 2351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Ala64Thr",
"transcript": "ENST00000666778.1",
"protein_id": "ENSP00000499775.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 469,
"cds_start": 190,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 446,
"cdna_end": null,
"cdna_length": 3713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Ala64Thr",
"transcript": "ENST00000456966.1",
"protein_id": "ENSP00000411086.1",
"transcript_support_level": 3,
"aa_start": 64,
"aa_end": null,
"aa_length": 269,
"cds_start": 190,
"cds_end": null,
"cds_length": 811,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Ala64Thr",
"transcript": "ENST00000432278.5",
"protein_id": "ENSP00000401273.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 167,
"cds_start": 190,
"cds_end": null,
"cds_length": 505,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 1033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Ala64Thr",
"transcript": "ENST00000665212.1",
"protein_id": "ENSP00000499538.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 114,
"cds_start": 190,
"cds_end": null,
"cds_length": 347,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Ala64Thr",
"transcript": "XM_005260935.2",
"protein_id": "XP_005260992.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 469,
"cds_start": 190,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 4356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Ala64Thr",
"transcript": "XM_017028290.2",
"protein_id": "XP_016883779.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 469,
"cds_start": 190,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 2550,
"cdna_end": null,
"cdna_length": 5836,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ETS2-AS1",
"gene_hgnc_id": 56712,
"hgvs_c": "n.535-853C>T",
"hgvs_p": null,
"transcript": "ENST00000663561.1",
"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": 1082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ETS2",
"gene_hgnc_id": 3489,
"dbsnp": "rs34373350",
"frequency_reference_population": 0.0031974064,
"hom_count_reference_population": 23,
"allele_count_reference_population": 5160,
"gnomad_exomes_af": 0.00265594,
"gnomad_genomes_af": 0.00839795,
"gnomad_exomes_ac": 3882,
"gnomad_genomes_ac": 1278,
"gnomad_exomes_homalt": 11,
"gnomad_genomes_homalt": 12,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0030266940593719482,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1599999964237213,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.008,
"revel_prediction": "Benign",
"alphamissense_score": 0.0623,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.069,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.16,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000360938.8",
"gene_symbol": "ETS2",
"hgnc_id": 3489,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Ala64Thr"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000663561.1",
"gene_symbol": "ETS2-AS1",
"hgnc_id": 56712,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.535-853C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}