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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: 2-240721033-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240721033&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 240721033,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000498729.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4749C>T",
"hgvs_p": "p.Ser1583Ser",
"transcript": "NM_001244008.2",
"protein_id": "NP_001230937.1",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4749,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4907,
"cdna_end": null,
"cdna_length": 9131,
"mane_select": "ENST00000498729.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4749C>T",
"hgvs_p": "p.Ser1583Ser",
"transcript": "ENST00000498729.9",
"protein_id": "ENSP00000438388.1",
"transcript_support_level": 5,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4749,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4907,
"cdna_end": null,
"cdna_length": 9131,
"mane_select": "NM_001244008.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.1306C>T",
"hgvs_p": null,
"transcript": "ENST00000460788.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "n.3332C>T",
"hgvs_p": null,
"transcript": "ENST00000492812.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4749C>T",
"hgvs_p": "p.Ser1583Ser",
"transcript": "ENST00000675932.2",
"protein_id": "ENSP00000502786.2",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1894,
"cds_start": 4749,
"cds_end": null,
"cds_length": 5685,
"cdna_start": 4907,
"cdna_end": null,
"cdna_length": 9151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4878C>T",
"hgvs_p": "p.Ser1626Ser",
"transcript": "ENST00000675314.2",
"protein_id": "ENSP00000502584.2",
"transcript_support_level": null,
"aa_start": 1626,
"aa_end": null,
"aa_length": 1834,
"cds_start": 4878,
"cds_end": null,
"cds_length": 5505,
"cdna_start": 5036,
"cdna_end": null,
"cdna_length": 9260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4875C>T",
"hgvs_p": "p.Ser1625Ser",
"transcript": "ENST00000674607.2",
"protein_id": "ENSP00000501825.2",
"transcript_support_level": null,
"aa_start": 1625,
"aa_end": null,
"aa_length": 1833,
"cds_start": 4875,
"cds_end": null,
"cds_length": 5502,
"cdna_start": 5033,
"cdna_end": null,
"cdna_length": 9257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4851C>T",
"hgvs_p": "p.Ser1617Ser",
"transcript": "ENST00000448728.2",
"protein_id": "ENSP00000398686.2",
"transcript_support_level": 5,
"aa_start": 1617,
"aa_end": null,
"aa_length": 1825,
"cds_start": 4851,
"cds_end": null,
"cds_length": 5478,
"cdna_start": 5321,
"cdna_end": null,
"cdna_length": 9545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4824C>T",
"hgvs_p": "p.Ser1608Ser",
"transcript": "NM_001379631.1",
"protein_id": "NP_001366560.1",
"transcript_support_level": null,
"aa_start": 1608,
"aa_end": null,
"aa_length": 1816,
"cds_start": 4824,
"cds_end": null,
"cds_length": 5451,
"cdna_start": 4982,
"cdna_end": null,
"cdna_length": 9206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4800C>T",
"hgvs_p": "p.Ser1600Ser",
"transcript": "ENST00000675126.2",
"protein_id": "ENSP00000501874.2",
"transcript_support_level": null,
"aa_start": 1600,
"aa_end": null,
"aa_length": 1808,
"cds_start": 4800,
"cds_end": null,
"cds_length": 5427,
"cdna_start": 4954,
"cdna_end": null,
"cdna_length": 9177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4785C>T",
"hgvs_p": "p.Ser1595Ser",
"transcript": "ENST00000674975.2",
"protein_id": "ENSP00000502241.2",
"transcript_support_level": null,
"aa_start": 1595,
"aa_end": null,
"aa_length": 1803,
"cds_start": 4785,
"cds_end": null,
"cds_length": 5412,
"cdna_start": 4943,
"cdna_end": null,
"cdna_length": 9167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4773C>T",
"hgvs_p": "p.Ser1591Ser",
"transcript": "ENST00000404283.9",
"protein_id": "ENSP00000384231.5",
"transcript_support_level": 5,
"aa_start": 1591,
"aa_end": null,
"aa_length": 1799,
"cds_start": 4773,
"cds_end": null,
"cds_length": 5400,
"cdna_start": 5020,
"cdna_end": null,
"cdna_length": 5647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4764C>T",
"hgvs_p": "p.Ser1588Ser",
"transcript": "ENST00000676050.2",
"protein_id": "ENSP00000501938.2",
"transcript_support_level": null,
"aa_start": 1588,
"aa_end": null,
"aa_length": 1796,
"cds_start": 4764,
"cds_end": null,
"cds_length": 5391,
"cdna_start": 4922,
"cdna_end": null,
"cdna_length": 9146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4749C>T",
"hgvs_p": "p.Ser1583Ser",
"transcript": "NM_001379642.1",
"protein_id": "NP_001366571.1",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4749,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4907,
"cdna_end": null,
"cdna_length": 9131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4749C>T",
"hgvs_p": "p.Ser1583Ser",
"transcript": "ENST00000647572.2",
"protein_id": "ENSP00000497953.2",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4749,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 5033,
"cdna_end": null,
"cdna_length": 9257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4749C>T",
"hgvs_p": "p.Ser1583Ser",
"transcript": "ENST00000674664.2",
"protein_id": "ENSP00000501778.2",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4749,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4840,
"cdna_end": null,
"cdna_length": 9064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4749C>T",
"hgvs_p": "p.Ser1583Ser",
"transcript": "ENST00000674907.2",
"protein_id": "ENSP00000502048.2",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4749,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 5135,
"cdna_end": null,
"cdna_length": 9359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4749C>T",
"hgvs_p": "p.Ser1583Ser",
"transcript": "ENST00000675152.2",
"protein_id": "ENSP00000501849.2",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4749,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4980,
"cdna_end": null,
"cdna_length": 9204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4749C>T",
"hgvs_p": "p.Ser1583Ser",
"transcript": "ENST00000675940.2",
"protein_id": "ENSP00000501962.2",
"transcript_support_level": null,
"aa_start": 1583,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4749,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4883,
"cdna_end": null,
"cdna_length": 9107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4725C>T",
"hgvs_p": "p.Ser1575Ser",
"transcript": "NM_001379632.1",
"protein_id": "NP_001366561.1",
"transcript_support_level": null,
"aa_start": 1575,
"aa_end": null,
"aa_length": 1783,
"cds_start": 4725,
"cds_end": null,
"cds_length": 5352,
"cdna_start": 4883,
"cdna_end": null,
"cdna_length": 9107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4722C>T",
"hgvs_p": "p.Ser1574Ser",
"transcript": "NM_001379633.1",
"protein_id": "NP_001366562.1",
"transcript_support_level": null,
"aa_start": 1574,
"aa_end": null,
"aa_length": 1782,
"cds_start": 4722,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 4880,
"cdna_end": null,
"cdna_length": 9104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
"gene_hgnc_id": 888,
"hgvs_c": "c.4722C>T",
"hgvs_p": "p.Ser1574Ser",
"transcript": "NM_001379645.1",
"protein_id": "NP_001366574.1",
"transcript_support_level": null,
"aa_start": 1574,
"aa_end": null,
"aa_length": 1782,
"cds_start": 4722,
"cds_end": null,
"cds_length": 5349,
"cdna_start": 4906,
"cdna_end": null,
"cdna_length": 9130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIF1A",
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:6 B:2",
"phenotype_combined": "not specified|not provided|Neuropathy, hereditary sensory, type 2C;Intellectual disability, autosomal dominant 9;Hereditary spastic paraplegia 30|Hereditary spastic paraplegia 30|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}