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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: 2-27657598-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27657598&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27657598,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014860.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"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.491C>T",
"hgvs_p": "p.Thr164Ile",
"transcript": "NM_014860.3",
"protein_id": "NP_055675.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 414,
"cds_start": 491,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 4296,
"mane_select": "ENST00000337768.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014860.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.491C>T",
"hgvs_p": "p.Thr164Ile",
"transcript": "ENST00000337768.10",
"protein_id": "ENSP00000336750.5",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 414,
"cds_start": 491,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 866,
"cdna_end": null,
"cdna_length": 4296,
"mane_select": "NM_014860.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337768.10"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.485C>T",
"hgvs_p": "p.Thr162Ile",
"transcript": "ENST00000405491.5",
"protein_id": "ENSP00000384469.1",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 412,
"cds_start": 485,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 2280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405491.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.485C>T",
"hgvs_p": "p.Thr162Ile",
"transcript": "ENST00000406540.5",
"protein_id": "ENSP00000385436.1",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 412,
"cds_start": 485,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1682,
"cdna_end": null,
"cdna_length": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406540.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.491C>T",
"hgvs_p": "p.Thr164Ile",
"transcript": "NM_001282729.2",
"protein_id": "NP_001269658.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 414,
"cds_start": 491,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 4301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282729.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.491C>T",
"hgvs_p": "p.Thr164Ile",
"transcript": "ENST00000897271.1",
"protein_id": "ENSP00000567330.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 414,
"cds_start": 491,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 2885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897271.1"
},
{
"aa_ref": "T",
"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": "SUPT7L",
"gene_hgnc_id": 30632,
"hgvs_c": "c.491C>T",
"hgvs_p": "p.Thr164Ile",
"transcript": "ENST00000897272.1",
"protein_id": "ENSP00000567331.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 414,
"cds_start": 491,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 827,
"cdna_end": null,
"cdna_length": 1995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897272.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.485C>T",
"hgvs_p": "p.Thr162Ile",
"transcript": "NM_001282730.2",
"protein_id": "NP_001269659.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 412,
"cds_start": 485,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 4509,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282730.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.485C>T",
"hgvs_p": "p.Thr162Ile",
"transcript": "NM_001282731.2",
"protein_id": "NP_001269660.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 412,
"cds_start": 485,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 4351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282731.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.485C>T",
"hgvs_p": "p.Thr162Ile",
"transcript": "ENST00000464789.2",
"protein_id": "ENSP00000441110.1",
"transcript_support_level": 5,
"aa_start": 162,
"aa_end": null,
"aa_length": 412,
"cds_start": 485,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 2664,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000464789.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.491C>T",
"hgvs_p": "p.Thr164Ile",
"transcript": "ENST00000897273.1",
"protein_id": "ENSP00000567332.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 384,
"cds_start": 491,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 662,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897273.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.491C>T",
"hgvs_p": "p.Thr164Ile",
"transcript": "ENST00000971044.1",
"protein_id": "ENSP00000641103.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 384,
"cds_start": 491,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1751,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971044.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.86C>T",
"hgvs_p": "p.Thr29Ile",
"transcript": "NM_001282732.2",
"protein_id": "NP_001269661.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 279,
"cds_start": 86,
"cds_end": null,
"cds_length": 840,
"cdna_start": 461,
"cdna_end": null,
"cdna_length": 3891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282732.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.86C>T",
"hgvs_p": "p.Thr29Ile",
"transcript": "ENST00000404798.6",
"protein_id": "ENSP00000385218.2",
"transcript_support_level": 2,
"aa_start": 29,
"aa_end": null,
"aa_length": 279,
"cds_start": 86,
"cds_end": null,
"cds_length": 840,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 4114,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404798.6"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.86C>T",
"hgvs_p": "p.Thr29Ile",
"transcript": "ENST00000897270.1",
"protein_id": "ENSP00000567329.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 279,
"cds_start": 86,
"cds_end": null,
"cds_length": 840,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897270.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"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.485C>T",
"hgvs_p": "p.Thr162Ile",
"transcript": "XM_005264672.5",
"protein_id": "XP_005264729.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 412,
"cds_start": 485,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 4514,
"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.871C>T",
"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": 2001,
"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.871C>T",
"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": 2129,
"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.1656C>T",
"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": 2786,
"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.866C>T",
"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": 2124,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_939750.4"
}
],
"gene_symbol": "SUPT7L",
"gene_hgnc_id": 30632,
"dbsnp": "rs377222033",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8558764457702637,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.403,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.658,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.888,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014860.3",
"gene_symbol": "SUPT7L",
"hgnc_id": 30632,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.491C>T",
"hgvs_p": "p.Thr164Ile"
}
],
"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
}