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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: 2-240737164-GC-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240737164&ref=GC&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KIF1A",
"hgnc_id": 888,
"hgvs_c": "c.3980_3981delGCinsAT",
"hgvs_p": "p.Arg1327His",
"inheritance_mode": "AR,AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001379631.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "R",
"aa_start": 1302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9131,
"cdna_start": 4064,
"cds_end": null,
"cds_length": 5376,
"cds_start": 3905,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001244008.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.3905_3906delGCinsAT",
"hgvs_p": "p.Arg1302His",
"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": "H",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "R",
"aa_start": 1302,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9131,
"cdna_start": 4064,
"cds_end": null,
"cds_length": 5376,
"cds_start": 3905,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000498729.9",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.3905_3906delGCinsAT",
"hgvs_p": "p.Arg1302His",
"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": 6,
"exon_rank_end": null,
"feature": "ENST00000492812.6",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "n.1067_1068delGCinsAT",
"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": "H",
"aa_end": null,
"aa_length": 1894,
"aa_ref": "R",
"aa_start": 1302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9151,
"cdna_start": 4064,
"cds_end": null,
"cds_length": 5685,
"cds_start": 3905,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675932.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.3905_3906delGCinsAT",
"hgvs_p": "p.Arg1302His",
"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": "H",
"aa_end": null,
"aa_length": 1834,
"aa_ref": "R",
"aa_start": 1345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9260,
"cdna_start": 4193,
"cds_end": null,
"cds_length": 5505,
"cds_start": 4034,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675314.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4034_4035delGCinsAT",
"hgvs_p": "p.Arg1345His",
"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": "H",
"aa_end": null,
"aa_length": 1833,
"aa_ref": "R",
"aa_start": 1344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9257,
"cdna_start": 4190,
"cds_end": null,
"cds_length": 5502,
"cds_start": 4031,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674607.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.4031_4032delGCinsAT",
"hgvs_p": "p.Arg1344His",
"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": "H",
"aa_end": null,
"aa_length": 1825,
"aa_ref": "R",
"aa_start": 1327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9545,
"cdna_start": 4451,
"cds_end": null,
"cds_length": 5478,
"cds_start": 3980,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000448728.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.3980_3981delGCinsAT",
"hgvs_p": "p.Arg1327His",
"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": "H",
"aa_end": null,
"aa_length": 1816,
"aa_ref": "R",
"aa_start": 1327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9206,
"cdna_start": 4139,
"cds_end": null,
"cds_length": 5451,
"cds_start": 3980,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001379631.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.3980_3981delGCinsAT",
"hgvs_p": "p.Arg1327His",
"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": "H",
"aa_end": null,
"aa_length": 1808,
"aa_ref": "R",
"aa_start": 1319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9177,
"cdna_start": 4111,
"cds_end": null,
"cds_length": 5427,
"cds_start": 3956,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675126.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.3956_3957delGCinsAT",
"hgvs_p": "p.Arg1319His",
"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": "H",
"aa_end": null,
"aa_length": 1803,
"aa_ref": "R",
"aa_start": 1314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9167,
"cdna_start": 4100,
"cds_end": null,
"cds_length": 5412,
"cds_start": 3941,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674975.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.3941_3942delGCinsAT",
"hgvs_p": "p.Arg1314His",
"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": "H",
"aa_end": null,
"aa_length": 1799,
"aa_ref": "R",
"aa_start": 1302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5647,
"cdna_start": 4153,
"cds_end": null,
"cds_length": 5400,
"cds_start": 3905,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000404283.9",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.3905_3906delGCinsAT",
"hgvs_p": "p.Arg1302His",
"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": "H",
"aa_end": null,
"aa_length": 1796,
"aa_ref": "R",
"aa_start": 1302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9146,
"cdna_start": 4064,
"cds_end": null,
"cds_length": 5391,
"cds_start": 3905,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676050.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.3905_3906delGCinsAT",
"hgvs_p": "p.Arg1302His",
"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": "H",
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"aa_length": 1791,
"aa_ref": "R",
"aa_start": 1293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9131,
"cdna_start": 4037,
"cds_end": null,
"cds_length": 5376,
"cds_start": 3878,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001379642.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.3878_3879delGCinsAT",
"hgvs_p": "p.Arg1293His",
"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": "H",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "R",
"aa_start": 1302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9257,
"cdna_start": 4190,
"cds_end": null,
"cds_length": 5376,
"cds_start": 3905,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647572.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.3905_3906delGCinsAT",
"hgvs_p": "p.Arg1302His",
"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": "H",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "R",
"aa_start": 1302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9064,
"cdna_start": 3997,
"cds_end": null,
"cds_length": 5376,
"cds_start": 3905,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674664.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.3905_3906delGCinsAT",
"hgvs_p": "p.Arg1302His",
"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": "H",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "R",
"aa_start": 1302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9359,
"cdna_start": 4292,
"cds_end": null,
"cds_length": 5376,
"cds_start": 3905,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674907.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.3905_3906delGCinsAT",
"hgvs_p": "p.Arg1302His",
"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": "H",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "R",
"aa_start": 1302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9204,
"cdna_start": 4137,
"cds_end": null,
"cds_length": 5376,
"cds_start": 3905,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675152.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.3905_3906delGCinsAT",
"hgvs_p": "p.Arg1302His",
"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": "H",
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"aa_length": 1791,
"aa_ref": "R",
"aa_start": 1302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9107,
"cdna_start": 4040,
"cds_end": null,
"cds_length": 5376,
"cds_start": 3905,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675940.2",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.3905_3906delGCinsAT",
"hgvs_p": "p.Arg1302His",
"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": "H",
"aa_end": null,
"aa_length": 1783,
"aa_ref": "R",
"aa_start": 1285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9107,
"cdna_start": 4013,
"cds_end": null,
"cds_length": 5352,
"cds_start": 3854,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001379632.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.3854_3855delGCinsAT",
"hgvs_p": "p.Arg1285His",
"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": "H",
"aa_end": null,
"aa_length": 1782,
"aa_ref": "R",
"aa_start": 1293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9104,
"cdna_start": 4037,
"cds_end": null,
"cds_length": 5349,
"cds_start": 3878,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001379633.1",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "c.3878_3879delGCinsAT",
"hgvs_p": "p.Arg1293His",
"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": "H",
"aa_end": null,
"aa_length": 1782,
"aa_ref": "R",
"aa_start": 1293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9130,
"cdna_start": 4063,
"cds_end": null,
"cds_length": 5349,
"cds_start": 3878,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": null,
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}