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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: 19-55661148-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55661148&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 55661148,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_007279.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF2",
"gene_hgnc_id": 23156,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Arg149Arg",
"transcript": "NM_007279.3",
"protein_id": "NP_009210.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 475,
"cds_start": 445,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000308924.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007279.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF2",
"gene_hgnc_id": 23156,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Arg149Arg",
"transcript": "ENST00000308924.9",
"protein_id": "ENSP00000307863.3",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 475,
"cds_start": 445,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007279.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000308924.9"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF2",
"gene_hgnc_id": 23156,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Arg149Arg",
"transcript": "ENST00000450554.6",
"protein_id": "ENSP00000388475.1",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 471,
"cds_start": 445,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450554.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF2",
"gene_hgnc_id": 23156,
"hgvs_c": "c.481C>A",
"hgvs_p": "p.Arg161Arg",
"transcript": "ENST00000890136.1",
"protein_id": "ENSP00000560195.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 483,
"cds_start": 481,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890136.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF2",
"gene_hgnc_id": 23156,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Arg149Arg",
"transcript": "NM_001012478.2",
"protein_id": "NP_001012496.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 471,
"cds_start": 445,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001012478.2"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF2",
"gene_hgnc_id": 23156,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Arg149Arg",
"transcript": "ENST00000913861.1",
"protein_id": "ENSP00000583920.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 470,
"cds_start": 445,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913861.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF2",
"gene_hgnc_id": 23156,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Arg149Arg",
"transcript": "ENST00000890138.1",
"protein_id": "ENSP00000560197.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 465,
"cds_start": 445,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890138.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF2",
"gene_hgnc_id": 23156,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Arg149Arg",
"transcript": "ENST00000890137.1",
"protein_id": "ENSP00000560196.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 461,
"cds_start": 445,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890137.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF2",
"gene_hgnc_id": 23156,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Arg134Arg",
"transcript": "ENST00000913862.1",
"protein_id": "ENSP00000583921.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 460,
"cds_start": 400,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913862.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF2",
"gene_hgnc_id": 23156,
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Arg149Arg",
"transcript": "ENST00000890135.1",
"protein_id": "ENSP00000560194.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 459,
"cds_start": 445,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890135.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF2",
"gene_hgnc_id": 23156,
"hgvs_c": "c.400C>A",
"hgvs_p": "p.Arg134Arg",
"transcript": "ENST00000890139.1",
"protein_id": "ENSP00000560198.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 456,
"cds_start": 400,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890139.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF2",
"gene_hgnc_id": 23156,
"hgvs_c": "c.160C>A",
"hgvs_p": "p.Arg54Arg",
"transcript": "ENST00000890134.1",
"protein_id": "ENSP00000560193.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 376,
"cds_start": 160,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890134.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF2",
"gene_hgnc_id": 23156,
"hgvs_c": "c.133C>A",
"hgvs_p": "p.Arg45Arg",
"transcript": "XM_011526410.2",
"protein_id": "XP_011524712.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 371,
"cds_start": 133,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526410.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF2",
"gene_hgnc_id": 23156,
"hgvs_c": "n.*406C>A",
"hgvs_p": null,
"transcript": "ENST00000587196.2",
"protein_id": "ENSP00000470020.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000587196.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF2",
"gene_hgnc_id": 23156,
"hgvs_c": "n.468C>A",
"hgvs_p": null,
"transcript": "ENST00000588850.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000588850.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF2",
"gene_hgnc_id": 23156,
"hgvs_c": "n.445C>A",
"hgvs_p": null,
"transcript": "ENST00000592874.2",
"protein_id": "ENSP00000466167.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000592874.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF2",
"gene_hgnc_id": 23156,
"hgvs_c": "n.*406C>A",
"hgvs_p": null,
"transcript": "ENST00000587196.2",
"protein_id": "ENSP00000470020.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000587196.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF2",
"gene_hgnc_id": 23156,
"hgvs_c": "c.-108C>A",
"hgvs_p": null,
"transcript": "XM_047438120.1",
"protein_id": "XP_047294076.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": null,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438120.1"
}
],
"gene_symbol": "U2AF2",
"gene_hgnc_id": 23156,
"dbsnp": "rs1600073584",
"frequency_reference_population": 0.0000013699494,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136995,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.28999999165534973,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.456,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_007279.3",
"gene_symbol": "U2AF2",
"hgnc_id": 23156,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.445C>A",
"hgvs_p": "p.Arg149Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}