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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: 2-27657584-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27657584&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27657584,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014860.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT7L",
"gene_hgnc_id": 30632,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "NM_014860.3",
"protein_id": "NP_055675.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 414,
"cds_start": 505,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337768.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014860.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT7L",
"gene_hgnc_id": 30632,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "ENST00000337768.10",
"protein_id": "ENSP00000336750.5",
"transcript_support_level": 1,
"aa_start": 169,
"aa_end": null,
"aa_length": 414,
"cds_start": 505,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014860.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337768.10"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT7L",
"gene_hgnc_id": 30632,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Ala167Thr",
"transcript": "ENST00000405491.5",
"protein_id": "ENSP00000384469.1",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 412,
"cds_start": 499,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405491.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT7L",
"gene_hgnc_id": 30632,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Ala167Thr",
"transcript": "ENST00000406540.5",
"protein_id": "ENSP00000385436.1",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 412,
"cds_start": 499,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406540.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT7L",
"gene_hgnc_id": 30632,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "NM_001282729.2",
"protein_id": "NP_001269658.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 414,
"cds_start": 505,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282729.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT7L",
"gene_hgnc_id": 30632,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "ENST00000897271.1",
"protein_id": "ENSP00000567330.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 414,
"cds_start": 505,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897271.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "SUPT7L",
"gene_hgnc_id": 30632,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "ENST00000897272.1",
"protein_id": "ENSP00000567331.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 414,
"cds_start": 505,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897272.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT7L",
"gene_hgnc_id": 30632,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Ala167Thr",
"transcript": "NM_001282730.2",
"protein_id": "NP_001269659.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 412,
"cds_start": 499,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282730.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT7L",
"gene_hgnc_id": 30632,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Ala167Thr",
"transcript": "NM_001282731.2",
"protein_id": "NP_001269660.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 412,
"cds_start": 499,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282731.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT7L",
"gene_hgnc_id": 30632,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Ala167Thr",
"transcript": "ENST00000464789.2",
"protein_id": "ENSP00000441110.1",
"transcript_support_level": 5,
"aa_start": 167,
"aa_end": null,
"aa_length": 412,
"cds_start": 499,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464789.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT7L",
"gene_hgnc_id": 30632,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "ENST00000897273.1",
"protein_id": "ENSP00000567332.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 384,
"cds_start": 505,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897273.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT7L",
"gene_hgnc_id": 30632,
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr",
"transcript": "ENST00000971044.1",
"protein_id": "ENSP00000641103.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 384,
"cds_start": 505,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971044.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT7L",
"gene_hgnc_id": 30632,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Ala34Thr",
"transcript": "NM_001282732.2",
"protein_id": "NP_001269661.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 279,
"cds_start": 100,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282732.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT7L",
"gene_hgnc_id": 30632,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Ala34Thr",
"transcript": "ENST00000404798.6",
"protein_id": "ENSP00000385218.2",
"transcript_support_level": 2,
"aa_start": 34,
"aa_end": null,
"aa_length": 279,
"cds_start": 100,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404798.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT7L",
"gene_hgnc_id": 30632,
"hgvs_c": "c.100G>A",
"hgvs_p": "p.Ala34Thr",
"transcript": "ENST00000897270.1",
"protein_id": "ENSP00000567329.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 279,
"cds_start": 100,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897270.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT7L",
"gene_hgnc_id": 30632,
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Ala167Thr",
"transcript": "XM_005264672.5",
"protein_id": "XP_005264729.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 412,
"cds_start": 499,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264672.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT7L",
"gene_hgnc_id": 30632,
"hgvs_c": "n.885G>A",
"hgvs_p": null,
"transcript": "XR_007085611.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_007085611.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT7L",
"gene_hgnc_id": 30632,
"hgvs_c": "n.885G>A",
"hgvs_p": null,
"transcript": "XR_007085617.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_007085617.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT7L",
"gene_hgnc_id": 30632,
"hgvs_c": "n.1670G>A",
"hgvs_p": null,
"transcript": "XR_007085624.1",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_007085624.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUPT7L",
"gene_hgnc_id": 30632,
"hgvs_c": "n.880G>A",
"hgvs_p": null,
"transcript": "XR_939750.4",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "XR_939750.4"
}
],
"gene_symbol": "SUPT7L",
"gene_hgnc_id": 30632,
"dbsnp": "rs1558499755",
"frequency_reference_population": 0.0000043367336,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.0000041043,
"gnomad_genomes_af": 0.00000656875,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10890108346939087,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.02,
"revel_prediction": "Benign",
"alphamissense_score": 0.0662,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.527,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014860.3",
"gene_symbol": "SUPT7L",
"hgnc_id": 30632,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Ala169Thr"
}
],
"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
}