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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: 2-240725321-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240725321&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"BP4_Moderate",
"BP6"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "KIF1A",
"hgnc_id": 888,
"hgvs_c": "c.4281G>A",
"hgvs_p": "p.Ser1427Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -3,
"transcript": "NM_001379631.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6",
"acmg_score": -3,
"allele_count_reference_population": 310,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"chr": "2",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " autosomal dominant 9, hereditary sensory, type 2C,Hereditary spastic paraplegia 30,Inborn genetic diseases,Intellectual disability,Neuropathy,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.020999999716877937,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "S",
"aa_start": 1402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9131,
"cdna_start": 4364,
"cds_end": null,
"cds_length": 5376,
"cds_start": 4206,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_001244008.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4206G>A",
"hgvs_p": "p.Ser1402Ser",
"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": "S",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "S",
"aa_start": 1402,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9131,
"cdna_start": 4364,
"cds_end": null,
"cds_length": 5376,
"cds_start": 4206,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000498729.9",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4206G>A",
"hgvs_p": "p.Ser1402Ser",
"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": 7507,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000492812.6",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "n.2789G>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": "S",
"aa_end": null,
"aa_length": 1894,
"aa_ref": "S",
"aa_start": 1402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9151,
"cdna_start": 4364,
"cds_end": null,
"cds_length": 5685,
"cds_start": 4206,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000675932.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4206G>A",
"hgvs_p": "p.Ser1402Ser",
"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": "S",
"aa_end": null,
"aa_length": 1834,
"aa_ref": "S",
"aa_start": 1445,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9260,
"cdna_start": 4493,
"cds_end": null,
"cds_length": 5505,
"cds_start": 4335,
"consequences": [
"synonymous_variant"
],
"exon_count": 50,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000675314.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4335G>A",
"hgvs_p": "p.Ser1445Ser",
"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": "S",
"aa_end": null,
"aa_length": 1833,
"aa_ref": "S",
"aa_start": 1444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9257,
"cdna_start": 4490,
"cds_end": null,
"cds_length": 5502,
"cds_start": 4332,
"consequences": [
"synonymous_variant"
],
"exon_count": 50,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000674607.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4332G>A",
"hgvs_p": "p.Ser1444Ser",
"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": "S",
"aa_end": null,
"aa_length": 1825,
"aa_ref": "S",
"aa_start": 1436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9545,
"cdna_start": 4778,
"cds_end": null,
"cds_length": 5478,
"cds_start": 4308,
"consequences": [
"synonymous_variant"
],
"exon_count": 51,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000448728.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4308G>A",
"hgvs_p": "p.Ser1436Ser",
"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": "S",
"aa_end": null,
"aa_length": 1816,
"aa_ref": "S",
"aa_start": 1427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9206,
"cdna_start": 4439,
"cds_end": null,
"cds_length": 5451,
"cds_start": 4281,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_001379631.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4281G>A",
"hgvs_p": "p.Ser1427Ser",
"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": "S",
"aa_end": null,
"aa_length": 1808,
"aa_ref": "S",
"aa_start": 1419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9177,
"cdna_start": 4411,
"cds_end": null,
"cds_length": 5427,
"cds_start": 4257,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000675126.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4257G>A",
"hgvs_p": "p.Ser1419Ser",
"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": "S",
"aa_end": null,
"aa_length": 1803,
"aa_ref": "S",
"aa_start": 1414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9167,
"cdna_start": 4400,
"cds_end": null,
"cds_length": 5412,
"cds_start": 4242,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000674975.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4242G>A",
"hgvs_p": "p.Ser1414Ser",
"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": "S",
"aa_end": null,
"aa_length": 1799,
"aa_ref": "S",
"aa_start": 1410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5647,
"cdna_start": 4477,
"cds_end": null,
"cds_length": 5400,
"cds_start": 4230,
"consequences": [
"synonymous_variant"
],
"exon_count": 50,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000404283.9",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4230G>A",
"hgvs_p": "p.Ser1410Ser",
"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": "S",
"aa_end": null,
"aa_length": 1796,
"aa_ref": "S",
"aa_start": 1402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9146,
"cdna_start": 4364,
"cds_end": null,
"cds_length": 5391,
"cds_start": 4206,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000676050.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4206G>A",
"hgvs_p": "p.Ser1402Ser",
"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": "S",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "S",
"aa_start": 1402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9131,
"cdna_start": 4364,
"cds_end": null,
"cds_length": 5376,
"cds_start": 4206,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_001379642.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4206G>A",
"hgvs_p": "p.Ser1402Ser",
"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": "S",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "S",
"aa_start": 1402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9257,
"cdna_start": 4490,
"cds_end": null,
"cds_length": 5376,
"cds_start": 4206,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000647572.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4206G>A",
"hgvs_p": "p.Ser1402Ser",
"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": "S",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "S",
"aa_start": 1402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9064,
"cdna_start": 4297,
"cds_end": null,
"cds_length": 5376,
"cds_start": 4206,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000674664.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4206G>A",
"hgvs_p": "p.Ser1402Ser",
"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": "S",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "S",
"aa_start": 1402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9359,
"cdna_start": 4592,
"cds_end": null,
"cds_length": 5376,
"cds_start": 4206,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000674907.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4206G>A",
"hgvs_p": "p.Ser1402Ser",
"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": "S",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "S",
"aa_start": 1402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9204,
"cdna_start": 4437,
"cds_end": null,
"cds_length": 5376,
"cds_start": 4206,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000675152.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4206G>A",
"hgvs_p": "p.Ser1402Ser",
"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": "S",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "S",
"aa_start": 1402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9107,
"cdna_start": 4340,
"cds_end": null,
"cds_length": 5376,
"cds_start": 4206,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000675940.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4206G>A",
"hgvs_p": "p.Ser1402Ser",
"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": "S",
"aa_end": null,
"aa_length": 1783,
"aa_ref": "S",
"aa_start": 1394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9107,
"cdna_start": 4340,
"cds_end": null,
"cds_length": 5352,
"cds_start": 4182,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "NM_001379632.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4182G>A",
"hgvs_p": "p.Ser1394Ser",
"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": "S",
"aa_end": null,
"aa_length": 1782,
"aa_ref": "S",
"aa_start": 1393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9104,
"cdna_start": 4337,
"cds_end": null,
"cds_length": 5349,
"cds_start": 4179,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001379633.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4179G>A",
"hgvs_p": "p.Ser1393Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366562.1",
"strand": false,
"transcript": "NM_001379633.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1782,
"aa_ref": "S",
"aa_start": 1393,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9130,
"cdna_start": 4363,
"cds_end": null,
"cds_length": 5349,
"cds_start": 4179,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
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"effect": "synonymous_variant",
"frequency_reference_population": 0.00019245406,
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"gnomad_exomes_ac": 280,
"gnomad_exomes_af": 0.000191953,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 30,
"gnomad_genomes_af": 0.000197257,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"phenotype_combined": "Hereditary spastic paraplegia 30|not provided|not specified|Hereditary spastic paraplegia 30;Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9|Inborn genetic diseases",
"phylop100way_prediction": "Benign",
"phylop100way_score": -3.995,
"pos": 240725321,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.021,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001379631.1"
}
]
}