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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: 2-240719087-GTC-ATA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=240719087&ref=GTC&alt=ATA&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.5206_5208delGACinsTAT",
"hgvs_p": "p.Asp1736Tyr",
"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": "ATA",
"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": "Y",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "D",
"aa_start": 1711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9131,
"cdna_start": 5291,
"cds_end": null,
"cds_length": 5376,
"cds_start": 5131,
"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.5131_5133delGACinsTAT",
"hgvs_p": "p.Asp1711Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "D",
"aa_start": 1711,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9131,
"cdna_start": 5291,
"cds_end": null,
"cds_length": 5376,
"cds_start": 5131,
"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.5131_5133delGACinsTAT",
"hgvs_p": "p.Asp1711Tyr",
"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": 7,
"exon_rank_end": null,
"feature": "ENST00000460788.5",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "n.1688_1690delGACinsTAT",
"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": 14,
"exon_rank_end": null,
"feature": "ENST00000492812.6",
"gene_hgnc_id": 888,
"gene_symbol": "KIF1A",
"hgvs_c": "n.3714_3716delGACinsTAT",
"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": "AI",
"aa_end": null,
"aa_length": 1894,
"aa_ref": "AT",
"aa_start": 1717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9151,
"cdna_start": 5311,
"cds_end": null,
"cds_length": 5685,
"cds_start": 5151,
"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.5151_5153delGACinsTAT",
"hgvs_p": "p.Thr1718Ile",
"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": "Y",
"aa_end": null,
"aa_length": 1834,
"aa_ref": "D",
"aa_start": 1754,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9260,
"cdna_start": 5420,
"cds_end": null,
"cds_length": 5505,
"cds_start": 5260,
"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.5260_5262delGACinsTAT",
"hgvs_p": "p.Asp1754Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1833,
"aa_ref": "D",
"aa_start": 1753,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9257,
"cdna_start": 5417,
"cds_end": null,
"cds_length": 5502,
"cds_start": 5257,
"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.5257_5259delGACinsTAT",
"hgvs_p": "p.Asp1753Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1825,
"aa_ref": "D",
"aa_start": 1745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9545,
"cdna_start": 5705,
"cds_end": null,
"cds_length": 5478,
"cds_start": 5233,
"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.5233_5235delGACinsTAT",
"hgvs_p": "p.Asp1745Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1816,
"aa_ref": "D",
"aa_start": 1736,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9206,
"cdna_start": 5366,
"cds_end": null,
"cds_length": 5451,
"cds_start": 5206,
"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.5206_5208delGACinsTAT",
"hgvs_p": "p.Asp1736Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1808,
"aa_ref": "D",
"aa_start": 1728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9177,
"cdna_start": 5338,
"cds_end": null,
"cds_length": 5427,
"cds_start": 5182,
"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.5182_5184delGACinsTAT",
"hgvs_p": "p.Asp1728Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1803,
"aa_ref": "D",
"aa_start": 1723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9167,
"cdna_start": 5327,
"cds_end": null,
"cds_length": 5412,
"cds_start": 5167,
"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.5167_5169delGACinsTAT",
"hgvs_p": "p.Asp1723Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1799,
"aa_ref": "D",
"aa_start": 1719,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5647,
"cdna_start": 5404,
"cds_end": null,
"cds_length": 5400,
"cds_start": 5155,
"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.5155_5157delGACinsTAT",
"hgvs_p": "p.Asp1719Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1796,
"aa_ref": "D",
"aa_start": 1716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9146,
"cdna_start": 5306,
"cds_end": null,
"cds_length": 5391,
"cds_start": 5146,
"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.5146_5148delGACinsTAT",
"hgvs_p": "p.Asp1716Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "D",
"aa_start": 1711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9131,
"cdna_start": 5291,
"cds_end": null,
"cds_length": 5376,
"cds_start": 5131,
"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.5131_5133delGACinsTAT",
"hgvs_p": "p.Asp1711Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "D",
"aa_start": 1711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9257,
"cdna_start": 5417,
"cds_end": null,
"cds_length": 5376,
"cds_start": 5131,
"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.5131_5133delGACinsTAT",
"hgvs_p": "p.Asp1711Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "D",
"aa_start": 1711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9064,
"cdna_start": 5224,
"cds_end": null,
"cds_length": 5376,
"cds_start": 5131,
"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.5131_5133delGACinsTAT",
"hgvs_p": "p.Asp1711Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "D",
"aa_start": 1711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9359,
"cdna_start": 5519,
"cds_end": null,
"cds_length": 5376,
"cds_start": 5131,
"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.5131_5133delGACinsTAT",
"hgvs_p": "p.Asp1711Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "D",
"aa_start": 1711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9204,
"cdna_start": 5364,
"cds_end": null,
"cds_length": 5376,
"cds_start": 5131,
"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.5131_5133delGACinsTAT",
"hgvs_p": "p.Asp1711Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1791,
"aa_ref": "D",
"aa_start": 1711,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9107,
"cdna_start": 5267,
"cds_end": null,
"cds_length": 5376,
"cds_start": 5131,
"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.5131_5133delGACinsTAT",
"hgvs_p": "p.Asp1711Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1783,
"aa_ref": "D",
"aa_start": 1703,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9107,
"cdna_start": 5267,
"cds_end": null,
"cds_length": 5352,
"cds_start": 5107,
"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.5107_5109delGACinsTAT",
"hgvs_p": "p.Asp1703Tyr",
"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": "Y",
"aa_end": null,
"aa_length": 1782,
"aa_ref": "D",
"aa_start": 1702,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9104,
"cdna_start": 5264,
"cds_end": null,
"cds_length": 5349,
"cds_start": 5104,
"consequences": [
"missense_variant"
],
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}