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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: 13-37058514-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=37058514&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SUPT20H",
"hgnc_id": 20596,
"hgvs_c": "c.-94+1045C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001278480.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 10913,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.86,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8600000143051147,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 779,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2923,
"cdna_start": null,
"cds_end": null,
"cds_length": 2340,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001014286.3",
"gene_hgnc_id": 20596,
"gene_symbol": "SUPT20H",
"hgvs_c": "c.-94+1045C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000350612.11",
"protein_coding": true,
"protein_id": "NP_001014308.2",
"strand": false,
"transcript": "NM_001014286.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 779,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2923,
"cdna_start": null,
"cds_end": null,
"cds_length": 2340,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000350612.11",
"gene_hgnc_id": 20596,
"gene_symbol": "SUPT20H",
"hgvs_c": "c.-94+1045C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001014286.3",
"protein_coding": true,
"protein_id": "ENSP00000218894.10",
"strand": false,
"transcript": "ENST00000350612.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 811,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2836,
"cdna_start": null,
"cds_end": null,
"cds_length": 2436,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000475892.5",
"gene_hgnc_id": 20596,
"gene_symbol": "SUPT20H",
"hgvs_c": "c.-94+1045C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417510.1",
"strand": false,
"transcript": "ENST00000475892.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 733,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2681,
"cdna_start": null,
"cds_end": null,
"cds_length": 2202,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356185.7",
"gene_hgnc_id": 20596,
"gene_symbol": "SUPT20H",
"hgvs_c": "c.-94+966C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348512.3",
"strand": false,
"transcript": "ENST00000356185.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 733,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2843,
"cdna_start": null,
"cds_end": null,
"cds_length": 2202,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000360252.8",
"gene_hgnc_id": 20596,
"gene_symbol": "SUPT20H",
"hgvs_c": "c.-94+1045C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000353388.4",
"strand": false,
"transcript": "ENST00000360252.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2948,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000464572.5",
"gene_hgnc_id": 20596,
"gene_symbol": "SUPT20H",
"hgvs_c": "n.81+1045C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000464572.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 811,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3056,
"cdna_start": null,
"cds_end": null,
"cds_length": 2436,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278480.2",
"gene_hgnc_id": 20596,
"gene_symbol": "SUPT20H",
"hgvs_c": "c.-94+1045C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265409.1",
"strand": false,
"transcript": "NM_001278480.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 780,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2963,
"cdna_start": null,
"cds_end": null,
"cds_length": 2343,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932742.1",
"gene_hgnc_id": 20596,
"gene_symbol": "SUPT20H",
"hgvs_c": "c.-94+966C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602801.1",
"strand": false,
"transcript": "ENST00000932742.1",
"transcript_support_level": null
},
{
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"aa_length": 780,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2920,
"cdna_start": null,
"cds_end": null,
"cds_length": 2343,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932744.1",
"gene_hgnc_id": 20596,
"gene_symbol": "SUPT20H",
"hgvs_c": "c.-256+966C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602803.1",
"strand": false,
"transcript": "ENST00000932744.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969161.1",
"gene_hgnc_id": 20596,
"gene_symbol": "SUPT20H",
"hgvs_c": "c.-256+1045C>T",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639220.1",
"strand": false,
"transcript": "ENST00000969161.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000969163.1",
"gene_hgnc_id": 20596,
"gene_symbol": "SUPT20H",
"hgvs_c": "c.-94+681C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000639222.1",
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},
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"consequences": [
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],
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"feature": "ENST00000858402.1",
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"protein_coding": true,
"protein_id": "ENSP00000528461.1",
"strand": false,
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},
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"feature": "ENST00000858404.1",
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"protein_id": "ENSP00000528463.1",
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},
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"consequences": [
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],
"exon_count": 26,
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"feature": "ENST00000858411.1",
"gene_hgnc_id": 20596,
"gene_symbol": "SUPT20H",
"hgvs_c": "c.-94+681C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000528470.1",
"strand": false,
"transcript": "ENST00000858411.1",
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},
{
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],
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"feature": "ENST00000932737.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000602796.1",
"strand": false,
"transcript": "ENST00000932737.1",
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},
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"consequences": [
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],
"exon_count": 26,
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"feature": "ENST00000932739.1",
"gene_hgnc_id": 20596,
"gene_symbol": "SUPT20H",
"hgvs_c": "c.-94+966C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000602798.1",
"strand": false,
"transcript": "ENST00000932739.1",
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},
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"cds_end": null,
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"consequences": [
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],
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"exon_rank": null,
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"feature": "ENST00000969162.1",
"gene_hgnc_id": 20596,
"gene_symbol": "SUPT20H",
"hgvs_c": "c.-94+1108C>T",
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},
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],
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},
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],
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"feature": "ENST00000858409.1",
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},
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"consequences": [
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],
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"feature": "ENST00000932740.1",
"gene_hgnc_id": 20596,
"gene_symbol": "SUPT20H",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000602799.1",
"strand": false,
"transcript": "ENST00000932740.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969158.1",
"gene_hgnc_id": 20596,
"gene_symbol": "SUPT20H",
"hgvs_c": "c.-94+966C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000639217.1",
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"transcript": "ENST00000969158.1",
"transcript_support_level": null
},
{
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