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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: 15-28947614-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=28947614&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": "APBA2",
"hgnc_id": 579,
"hgvs_c": "c.-95+25865G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_005503.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 7734,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 749,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3941,
"cdna_start": null,
"cds_end": null,
"cds_length": 2250,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353788.2",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.-95+25865G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000683413.1",
"protein_coding": true,
"protein_id": "NP_001340717.1",
"strand": true,
"transcript": "NM_001353788.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 749,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3941,
"cdna_start": null,
"cds_end": null,
"cds_length": 2250,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683413.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.-95+25865G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001353788.2",
"protein_coding": true,
"protein_id": "ENSP00000507394.1",
"strand": true,
"transcript": "ENST00000683413.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 749,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3635,
"cdna_start": null,
"cds_end": null,
"cds_length": 2250,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000558259.5",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.-95+25865G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454171.1",
"strand": true,
"transcript": "ENST00000558259.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 737,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3599,
"cdna_start": null,
"cds_end": null,
"cds_length": 2214,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000411764.5",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.-95+25865G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409312.1",
"strand": true,
"transcript": "ENST00000411764.5",
"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": 2555,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000559814.5",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "n.229+25865G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000559814.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 801,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3350,
"cdna_start": null,
"cds_end": null,
"cds_length": 2406,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852561.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.-95+25896G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522620.1",
"strand": true,
"transcript": "ENST00000852561.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 801,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3262,
"cdna_start": null,
"cds_end": null,
"cds_length": 2406,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941655.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.-95+25865G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611714.1",
"strand": true,
"transcript": "ENST00000941655.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 791,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3209,
"cdna_start": null,
"cds_end": null,
"cds_length": 2376,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852567.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.-95+25865G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522626.1",
"strand": true,
"transcript": "ENST00000852567.1",
"transcript_support_level": null
},
{
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"aa_length": 790,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3271,
"cdna_start": null,
"cds_end": null,
"cds_length": 2373,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852565.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.-95+25865G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522624.1",
"strand": true,
"transcript": "ENST00000852565.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2370,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000852560.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.-95+25896G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522619.1",
"strand": true,
"transcript": "ENST00000852560.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"exon_rank": null,
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"feature": "ENST00000852564.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.-246-14290G>A",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522623.1",
"strand": true,
"transcript": "ENST00000852564.1",
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},
{
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"biotype": "protein_coding",
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],
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"feature": "ENST00000923490.1",
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"protein_coding": true,
"protein_id": "ENSP00000593549.1",
"strand": true,
"transcript": "ENST00000923490.1",
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},
{
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"biotype": "protein_coding",
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"feature": "ENST00000852548.1",
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"protein_coding": true,
"protein_id": "ENSP00000522607.1",
"strand": true,
"transcript": "ENST00000852548.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
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"feature": "ENST00000852545.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.-95+25865G>A",
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"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000522604.1",
"strand": true,
"transcript": "ENST00000852545.1",
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},
{
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],
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"feature": "ENST00000941654.1",
"gene_hgnc_id": 579,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000611713.1",
"strand": true,
"transcript": "ENST00000941654.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000852553.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.-95+25865G>A",
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"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000522612.1",
"strand": true,
"transcript": "ENST00000852553.1",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
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"feature": "ENST00000852557.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.-95+25865G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000522616.1",
"strand": true,
"transcript": "ENST00000852557.1",
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},
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],
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"feature": "ENST00000941649.1",
"gene_hgnc_id": 579,
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"strand": true,
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},
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],
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"feature": "ENST00000941651.1",
"gene_hgnc_id": 579,
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"mane_plus": null,
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"strand": true,
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},
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"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000941652.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.-91+25865G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000611711.1",
"strand": true,
"transcript": "ENST00000941652.1",
"transcript_support_level": null
},
{
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"cds_end": null,
"cds_length": 2256,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000941657.1",
"gene_hgnc_id": 579,
"gene_symbol": "APBA2",
"hgvs_c": "c.-91+25865G>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000611716.1",
"strand": true,
"transcript": "ENST00000941657.1",
"transcript_support_level": null
},
{
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