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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: 2-240722612-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240722612&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "KIF1A",
"hgnc_id": 888,
"hgvs_c": "c.4584G>A",
"hgvs_p": "p.Glu1528Glu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_001379631.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_score": -11,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "2",
"clinvar_classification": "Likely benign",
"clinvar_disease": " autosomal dominant 9, hereditary sensory, type 2C,Hereditary spastic paraplegia 30,Inborn genetic diseases,Intellectual disability,Neuropathy",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09799999743700027,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "E",
"aa_start": 1503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9131,
"cdna_start": 4667,
"cds_end": null,
"cds_length": 5376,
"cds_start": 4509,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001244008.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4509G>A",
"hgvs_p": "p.Glu1503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000498729.9",
"protein_coding": true,
"protein_id": "NP_001230937.1",
"strand": false,
"transcript": "NM_001244008.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "E",
"aa_start": 1503,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9131,
"cdna_start": 4667,
"cds_end": null,
"cds_length": 5376,
"cds_start": 4509,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000498729.9",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4509G>A",
"hgvs_p": "p.Glu1503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001244008.2",
"protein_coding": true,
"protein_id": "ENSP00000438388.1",
"strand": false,
"transcript": "ENST00000498729.9",
"transcript_support_level": 5
},
{
"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": 5533,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000460788.5",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "n.1066G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000460788.5",
"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": 7507,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000492812.6",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "n.3092G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000492812.6",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1894,
"aa_ref": "E",
"aa_start": 1503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9151,
"cdna_start": 4667,
"cds_end": null,
"cds_length": 5685,
"cds_start": 4509,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000675932.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4509G>A",
"hgvs_p": "p.Glu1503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502786.2",
"strand": false,
"transcript": "ENST00000675932.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1834,
"aa_ref": "E",
"aa_start": 1546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9260,
"cdna_start": 4796,
"cds_end": null,
"cds_length": 5505,
"cds_start": 4638,
"consequences": [
"synonymous_variant"
],
"exon_count": 50,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000675314.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4638G>A",
"hgvs_p": "p.Glu1546Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502584.2",
"strand": false,
"transcript": "ENST00000675314.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1833,
"aa_ref": "E",
"aa_start": 1545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9257,
"cdna_start": 4793,
"cds_end": null,
"cds_length": 5502,
"cds_start": 4635,
"consequences": [
"synonymous_variant"
],
"exon_count": 50,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000674607.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4635G>A",
"hgvs_p": "p.Glu1545Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501825.2",
"strand": false,
"transcript": "ENST00000674607.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1825,
"aa_ref": "E",
"aa_start": 1537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9545,
"cdna_start": 5081,
"cds_end": null,
"cds_length": 5478,
"cds_start": 4611,
"consequences": [
"synonymous_variant"
],
"exon_count": 51,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000448728.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4611G>A",
"hgvs_p": "p.Glu1537Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398686.2",
"strand": false,
"transcript": "ENST00000448728.2",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1816,
"aa_ref": "E",
"aa_start": 1528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9206,
"cdna_start": 4742,
"cds_end": null,
"cds_length": 5451,
"cds_start": 4584,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001379631.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4584G>A",
"hgvs_p": "p.Glu1528Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366560.1",
"strand": false,
"transcript": "NM_001379631.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1808,
"aa_ref": "E",
"aa_start": 1520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9177,
"cdna_start": 4714,
"cds_end": null,
"cds_length": 5427,
"cds_start": 4560,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000675126.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4560G>A",
"hgvs_p": "p.Glu1520Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501874.2",
"strand": false,
"transcript": "ENST00000675126.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1803,
"aa_ref": "E",
"aa_start": 1515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9167,
"cdna_start": 4703,
"cds_end": null,
"cds_length": 5412,
"cds_start": 4545,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000674975.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4545G>A",
"hgvs_p": "p.Glu1515Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502241.2",
"strand": false,
"transcript": "ENST00000674975.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1799,
"aa_ref": "E",
"aa_start": 1511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5647,
"cdna_start": 4780,
"cds_end": null,
"cds_length": 5400,
"cds_start": 4533,
"consequences": [
"synonymous_variant"
],
"exon_count": 50,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000404283.9",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4533G>A",
"hgvs_p": "p.Glu1511Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384231.5",
"strand": false,
"transcript": "ENST00000404283.9",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1796,
"aa_ref": "E",
"aa_start": 1503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9146,
"cdna_start": 4667,
"cds_end": null,
"cds_length": 5391,
"cds_start": 4509,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000676050.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4509G>A",
"hgvs_p": "p.Glu1503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501938.2",
"strand": false,
"transcript": "ENST00000676050.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "E",
"aa_start": 1503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9131,
"cdna_start": 4667,
"cds_end": null,
"cds_length": 5376,
"cds_start": 4509,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001379642.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4509G>A",
"hgvs_p": "p.Glu1503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366571.1",
"strand": false,
"transcript": "NM_001379642.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "E",
"aa_start": 1503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9257,
"cdna_start": 4793,
"cds_end": null,
"cds_length": 5376,
"cds_start": 4509,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000647572.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4509G>A",
"hgvs_p": "p.Glu1503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497953.2",
"strand": false,
"transcript": "ENST00000647572.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "E",
"aa_start": 1503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9064,
"cdna_start": 4600,
"cds_end": null,
"cds_length": 5376,
"cds_start": 4509,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000674664.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4509G>A",
"hgvs_p": "p.Glu1503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501778.2",
"strand": false,
"transcript": "ENST00000674664.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "E",
"aa_start": 1503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9359,
"cdna_start": 4895,
"cds_end": null,
"cds_length": 5376,
"cds_start": 4509,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000674907.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4509G>A",
"hgvs_p": "p.Glu1503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502048.2",
"strand": false,
"transcript": "ENST00000674907.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "E",
"aa_start": 1503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9204,
"cdna_start": 4740,
"cds_end": null,
"cds_length": 5376,
"cds_start": 4509,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000675152.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4509G>A",
"hgvs_p": "p.Glu1503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501849.2",
"strand": false,
"transcript": "ENST00000675152.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "E",
"aa_start": 1503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9107,
"cdna_start": 4643,
"cds_end": null,
"cds_length": 5376,
"cds_start": 4509,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000675940.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4509G>A",
"hgvs_p": "p.Glu1503Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501962.2",
"strand": false,
"transcript": "ENST00000675940.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1783,
"aa_ref": "E",
"aa_start": 1495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9107,
"cdna_start": 4643,
"cds_end": null,
"cds_length": 5352,
"cds_start": 4485,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001379632.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4485G>A",
"hgvs_p": "p.Glu1495Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366561.1",
"strand": false,
"transcript": "NM_001379632.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1782,
"aa_ref": "E",
"aa_start": 1494,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9104,
"cdna_start": 4640,
"cds_end": null,
"cds_length": 5349,
"cds_start": 4482,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
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"biotype": "nonsense_mediated_decay",
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"cds_end": null,
"cds_length": null,
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"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 50,
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"feature": "ENST00000674793.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "n.*4459G>A",
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000501930.1",
"strand": false,
"transcript": "ENST00000674793.2",
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}
],
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"dbscsnv_ada_score": null,
"dbsnp": "rs1229202517",
"effect": "synonymous_variant",
"frequency_reference_population": 0.0000049609293,
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"gene_symbol": "KIF1A",
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"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
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"mitotip_prediction": null,
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"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "Hereditary spastic paraplegia 30;Intellectual disability, autosomal dominant 9;Neuropathy, hereditary sensory, type 2C|Inborn genetic diseases",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.059,
"pos": 240722612,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.098,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
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"transcript": "NM_001379631.1"
}
]
}