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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: 19-39464893-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=39464893&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 39464893,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_003169.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT5H",
"gene_hgnc_id": 11469,
"hgvs_c": "c.720G>A",
"hgvs_p": "p.Glu240Glu",
"transcript": "NM_001111020.3",
"protein_id": "NP_001104490.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 1087,
"cds_start": 720,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000432763.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001111020.3"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT5H",
"gene_hgnc_id": 11469,
"hgvs_c": "c.720G>A",
"hgvs_p": "p.Glu240Glu",
"transcript": "ENST00000432763.7",
"protein_id": "ENSP00000404029.4",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 1087,
"cds_start": 720,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001111020.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432763.7"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT5H",
"gene_hgnc_id": 11469,
"hgvs_c": "c.720G>A",
"hgvs_p": "p.Glu240Glu",
"transcript": "ENST00000598725.5",
"protein_id": "ENSP00000469090.1",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 1087,
"cds_start": 720,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598725.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT5H",
"gene_hgnc_id": 11469,
"hgvs_c": "c.708G>A",
"hgvs_p": "p.Glu236Glu",
"transcript": "ENST00000359191.10",
"protein_id": "ENSP00000352117.6",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 1083,
"cds_start": 708,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359191.10"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT5H",
"gene_hgnc_id": 11469,
"hgvs_c": "c.708G>A",
"hgvs_p": "p.Glu236Glu",
"transcript": "ENST00000402194.6",
"protein_id": "ENSP00000384505.2",
"transcript_support_level": 1,
"aa_start": 236,
"aa_end": null,
"aa_length": 1083,
"cds_start": 708,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402194.6"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT5H",
"gene_hgnc_id": 11469,
"hgvs_c": "c.720G>A",
"hgvs_p": "p.Glu240Glu",
"transcript": "NM_001130824.2",
"protein_id": "NP_001124296.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 1087,
"cds_start": 720,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130824.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT5H",
"gene_hgnc_id": 11469,
"hgvs_c": "c.720G>A",
"hgvs_p": "p.Glu240Glu",
"transcript": "NM_001319990.2",
"protein_id": "NP_001306919.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 1087,
"cds_start": 720,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319990.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT5H",
"gene_hgnc_id": 11469,
"hgvs_c": "c.720G>A",
"hgvs_p": "p.Glu240Glu",
"transcript": "NM_003169.4",
"protein_id": "NP_003160.2",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 1087,
"cds_start": 720,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003169.4"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT5H",
"gene_hgnc_id": 11469,
"hgvs_c": "c.720G>A",
"hgvs_p": "p.Glu240Glu",
"transcript": "ENST00000599117.5",
"protein_id": "ENSP00000470252.1",
"transcript_support_level": 5,
"aa_start": 240,
"aa_end": null,
"aa_length": 1087,
"cds_start": 720,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599117.5"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT5H",
"gene_hgnc_id": 11469,
"hgvs_c": "c.720G>A",
"hgvs_p": "p.Glu240Glu",
"transcript": "ENST00000946279.1",
"protein_id": "ENSP00000616338.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 1087,
"cds_start": 720,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946279.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT5H",
"gene_hgnc_id": 11469,
"hgvs_c": "c.720G>A",
"hgvs_p": "p.Glu240Glu",
"transcript": "ENST00000946280.1",
"protein_id": "ENSP00000616339.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 1087,
"cds_start": 720,
"cds_end": null,
"cds_length": 3264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946280.1"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT5H",
"gene_hgnc_id": 11469,
"hgvs_c": "c.708G>A",
"hgvs_p": "p.Glu236Glu",
"transcript": "NM_001130825.2",
"protein_id": "NP_001124297.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 1083,
"cds_start": 708,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130825.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT5H",
"gene_hgnc_id": 11469,
"hgvs_c": "c.708G>A",
"hgvs_p": "p.Glu236Glu",
"transcript": "NM_001319991.2",
"protein_id": "NP_001306920.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 1083,
"cds_start": 708,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319991.2"
},
{
"aa_ref": "E",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT5H",
"gene_hgnc_id": 11469,
"hgvs_c": "c.708G>A",
"hgvs_p": "p.Glu236Glu",
"transcript": "ENST00000917285.1",
"protein_id": "ENSP00000587344.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 1062,
"cds_start": 708,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917285.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SUPT5H",
"gene_hgnc_id": 11469,
"hgvs_c": "c.358-1587G>A",
"hgvs_p": null,
"transcript": "ENST00000593727.1",
"protein_id": "ENSP00000469915.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": null,
"cds_end": null,
"cds_length": 493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593727.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT5H",
"gene_hgnc_id": 11469,
"hgvs_c": "n.*8G>A",
"hgvs_p": null,
"transcript": "ENST00000599907.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000599907.1"
}
],
"gene_symbol": "SUPT5H",
"gene_hgnc_id": 11469,
"dbsnp": "rs2304217",
"frequency_reference_population": 0.16735582,
"hom_count_reference_population": 23302,
"allele_count_reference_population": 270120,
"gnomad_exomes_af": 0.167997,
"gnomad_genomes_af": 0.161197,
"gnomad_exomes_ac": 245590,
"gnomad_genomes_ac": 24530,
"gnomad_exomes_homalt": 21256,
"gnomad_genomes_homalt": 2046,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.44999998807907104,
"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": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.439,
"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": -19,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -19,
"benign_score": 19,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_003169.4",
"gene_symbol": "SUPT5H",
"hgnc_id": 11469,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.720G>A",
"hgvs_p": "p.Glu240Glu"
}
],
"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
}