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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: 21-25764684-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=25764684&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GABPA",
"hgnc_id": 4071,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_002040.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.6618,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "21",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.43496638536453247,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 454,
"aa_ref": "E",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5226,
"cdna_start": 1666,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_002040.4",
"gene_hgnc_id": 4071,
"gene_symbol": "GABPA",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000400075.4",
"protein_coding": true,
"protein_id": "NP_002031.2",
"strand": true,
"transcript": "NM_002040.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 454,
"aa_ref": "E",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5226,
"cdna_start": 1666,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000400075.4",
"gene_hgnc_id": 4071,
"gene_symbol": "GABPA",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002040.4",
"protein_coding": true,
"protein_id": "ENSP00000382948.3",
"strand": true,
"transcript": "ENST00000400075.4",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 454,
"aa_ref": "E",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5120,
"cdna_start": 1560,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000354828.7",
"gene_hgnc_id": 4071,
"gene_symbol": "GABPA",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346886.3",
"strand": true,
"transcript": "ENST00000354828.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 484,
"aa_ref": "E",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4917,
"cdna_start": 1267,
"cds_end": null,
"cds_length": 1455,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000924594.1",
"gene_hgnc_id": 4071,
"gene_symbol": "GABPA",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594653.1",
"strand": true,
"transcript": "ENST00000924594.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 484,
"aa_ref": "E",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4875,
"cdna_start": 1225,
"cds_end": null,
"cds_length": 1455,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000924595.1",
"gene_hgnc_id": 4071,
"gene_symbol": "GABPA",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594654.1",
"strand": true,
"transcript": "ENST00000924595.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 484,
"aa_ref": "E",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2632,
"cdna_start": 1859,
"cds_end": null,
"cds_length": 1455,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962278.1",
"gene_hgnc_id": 4071,
"gene_symbol": "GABPA",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632337.1",
"strand": true,
"transcript": "ENST00000962278.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 454,
"aa_ref": "E",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4718,
"cdna_start": 1158,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001197297.2",
"gene_hgnc_id": 4071,
"gene_symbol": "GABPA",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001184226.1",
"strand": true,
"transcript": "NM_001197297.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 454,
"aa_ref": "E",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5080,
"cdna_start": 1520,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000904128.1",
"gene_hgnc_id": 4071,
"gene_symbol": "GABPA",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574187.1",
"strand": true,
"transcript": "ENST00000904128.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 454,
"aa_ref": "E",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5103,
"cdna_start": 1543,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000904129.1",
"gene_hgnc_id": 4071,
"gene_symbol": "GABPA",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574188.1",
"strand": true,
"transcript": "ENST00000904129.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 454,
"aa_ref": "E",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5031,
"cdna_start": 1471,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000904130.1",
"gene_hgnc_id": 4071,
"gene_symbol": "GABPA",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574189.1",
"strand": true,
"transcript": "ENST00000904130.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 454,
"aa_ref": "E",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4832,
"cdna_start": 1272,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000904131.1",
"gene_hgnc_id": 4071,
"gene_symbol": "GABPA",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574190.1",
"strand": true,
"transcript": "ENST00000904131.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 454,
"aa_ref": "E",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5626,
"cdna_start": 2066,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000904132.1",
"gene_hgnc_id": 4071,
"gene_symbol": "GABPA",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574191.1",
"strand": true,
"transcript": "ENST00000904132.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 454,
"aa_ref": "E",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3726,
"cdna_start": 1611,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000904133.1",
"gene_hgnc_id": 4071,
"gene_symbol": "GABPA",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574192.1",
"strand": true,
"transcript": "ENST00000904133.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 454,
"aa_ref": "E",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2447,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000904135.1",
"gene_hgnc_id": 4071,
"gene_symbol": "GABPA",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574194.1",
"strand": true,
"transcript": "ENST00000904135.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 454,
"aa_ref": "E",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2724,
"cdna_start": 1649,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000904136.1",
"gene_hgnc_id": 4071,
"gene_symbol": "GABPA",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574195.1",
"strand": true,
"transcript": "ENST00000904136.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 454,
"aa_ref": "E",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6433,
"cdna_start": 2873,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000904137.1",
"gene_hgnc_id": 4071,
"gene_symbol": "GABPA",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574196.1",
"strand": true,
"transcript": "ENST00000904137.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 454,
"aa_ref": "E",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7222,
"cdna_start": 3666,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000904138.1",
"gene_hgnc_id": 4071,
"gene_symbol": "GABPA",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574197.1",
"strand": true,
"transcript": "ENST00000904138.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 454,
"aa_ref": "E",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4916,
"cdna_start": 1356,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000904139.1",
"gene_hgnc_id": 4071,
"gene_symbol": "GABPA",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574198.1",
"strand": true,
"transcript": "ENST00000904139.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 454,
"aa_ref": "E",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4734,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000924592.1",
"gene_hgnc_id": 4071,
"gene_symbol": "GABPA",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594651.1",
"strand": true,
"transcript": "ENST00000924592.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 454,
"aa_ref": "E",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6052,
"cdna_start": 2492,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000924593.1",
"gene_hgnc_id": 4071,
"gene_symbol": "GABPA",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594652.1",
"strand": true,
"transcript": "ENST00000924593.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 454,
"aa_ref": "E",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5032,
"cdna_start": 1474,
"cds_end": null,
"cds_length": 1365,
"cds_start": 1033,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000924596.1",
"gene_hgnc_id": 4071,
"gene_symbol": "GABPA",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Glu345Lys",
"intron_rank": null,
"intron_rank_end": null,
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]
}