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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: 19-11174531-GG-CA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11174531&ref=GG&alt=CA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KANK2",
"hgnc_id": 29300,
"hgvs_c": "c.2033_2034delCCinsTG",
"hgvs_p": "p.Ala678Val",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_015493.7",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PS1,PP3",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"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": "V",
"aa_end": null,
"aa_length": 851,
"aa_ref": "A",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5183,
"cdna_start": 2349,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2009,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001136191.3",
"gene_hgnc_id": 29300,
"gene_symbol": "KANK2",
"hgvs_c": "c.2009_2010delCCinsTG",
"hgvs_p": "p.Ala670Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000586659.6",
"protein_coding": true,
"protein_id": "NP_001129663.1",
"strand": false,
"transcript": "NM_001136191.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 851,
"aa_ref": "A",
"aa_start": 670,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5183,
"cdna_start": 2349,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2009,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000586659.6",
"gene_hgnc_id": 29300,
"gene_symbol": "KANK2",
"hgvs_c": "c.2009_2010delCCinsTG",
"hgvs_p": "p.Ala670Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001136191.3",
"protein_coding": true,
"protein_id": "ENSP00000465650.1",
"strand": false,
"transcript": "ENST00000586659.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 859,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5273,
"cdna_start": 2439,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2033,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001379548.1",
"gene_hgnc_id": 29300,
"gene_symbol": "KANK2",
"hgvs_c": "c.2033_2034delCCinsTG",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366477.1",
"strand": false,
"transcript": "NM_001379548.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 859,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5334,
"cdna_start": 2500,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2033,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001379549.1",
"gene_hgnc_id": 29300,
"gene_symbol": "KANK2",
"hgvs_c": "c.2033_2034delCCinsTG",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366478.1",
"strand": false,
"transcript": "NM_001379549.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 859,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5008,
"cdna_start": 2174,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2033,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001379550.1",
"gene_hgnc_id": 29300,
"gene_symbol": "KANK2",
"hgvs_c": "c.2033_2034delCCinsTG",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366479.1",
"strand": false,
"transcript": "NM_001379550.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 859,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5451,
"cdna_start": 2617,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2033,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001379551.1",
"gene_hgnc_id": 29300,
"gene_symbol": "KANK2",
"hgvs_c": "c.2033_2034delCCinsTG",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366480.1",
"strand": false,
"transcript": "NM_001379551.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 859,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5305,
"cdna_start": 2471,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2033,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001379552.1",
"gene_hgnc_id": 29300,
"gene_symbol": "KANK2",
"hgvs_c": "c.2033_2034delCCinsTG",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366481.1",
"strand": false,
"transcript": "NM_001379552.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 859,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5344,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2033,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001379553.1",
"gene_hgnc_id": 29300,
"gene_symbol": "KANK2",
"hgvs_c": "c.2033_2034delCCinsTG",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366482.1",
"strand": false,
"transcript": "NM_001379553.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 859,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5371,
"cdna_start": 2537,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2033,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001379554.1",
"gene_hgnc_id": 29300,
"gene_symbol": "KANK2",
"hgvs_c": "c.2033_2034delCCinsTG",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366483.1",
"strand": false,
"transcript": "NM_001379554.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 859,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5207,
"cdna_start": 2373,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2033,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015493.7",
"gene_hgnc_id": 29300,
"gene_symbol": "KANK2",
"hgvs_c": "c.2033_2034delCCinsTG",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056308.3",
"strand": false,
"transcript": "NM_015493.7",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 859,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3048,
"cdna_start": 2502,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2033,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000589359.5",
"gene_hgnc_id": 29300,
"gene_symbol": "KANK2",
"hgvs_c": "c.2033_2034delCCinsTG",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468002.1",
"strand": false,
"transcript": "ENST00000589359.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
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"aa_length": 859,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5273,
"cdna_start": 2438,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2033,
"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884142.1",
"gene_hgnc_id": 29300,
"gene_symbol": "KANK2",
"hgvs_c": "c.2033_2034delCCinsTG",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554201.1",
"strand": false,
"transcript": "ENST00000884142.1",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5230,
"cdna_start": 2393,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2033,
"consequences": [
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],
"exon_count": 13,
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"exon_rank_end": null,
"feature": "ENST00000884145.1",
"gene_hgnc_id": 29300,
"gene_symbol": "KANK2",
"hgvs_c": "c.2033_2034delCCinsTG",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554204.1",
"strand": false,
"transcript": "ENST00000884145.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 859,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5174,
"cdna_start": 2343,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2033,
"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884149.1",
"gene_hgnc_id": 29300,
"gene_symbol": "KANK2",
"hgvs_c": "c.2033_2034delCCinsTG",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554208.1",
"strand": false,
"transcript": "ENST00000884149.1",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 2536,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2033,
"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884150.1",
"gene_hgnc_id": 29300,
"gene_symbol": "KANK2",
"hgvs_c": "c.2033_2034delCCinsTG",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554209.1",
"strand": false,
"transcript": "ENST00000884150.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 859,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4078,
"cdna_start": 2547,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2033,
"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884152.1",
"gene_hgnc_id": 29300,
"gene_symbol": "KANK2",
"hgvs_c": "c.2033_2034delCCinsTG",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554211.1",
"strand": false,
"transcript": "ENST00000884152.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 859,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3946,
"cdna_start": 2429,
"cds_end": null,
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"cds_start": 2033,
"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000960856.1",
"gene_hgnc_id": 29300,
"gene_symbol": "KANK2",
"hgvs_c": "c.2033_2034delCCinsTG",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630915.1",
"strand": false,
"transcript": "ENST00000960856.1",
"transcript_support_level": null
},
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"biotype": "protein_coding",
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"cdna_start": 2456,
"cds_end": null,
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"cds_start": 2033,
"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960857.1",
"gene_hgnc_id": 29300,
"gene_symbol": "KANK2",
"hgvs_c": "c.2033_2034delCCinsTG",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630916.1",
"strand": false,
"transcript": "ENST00000960857.1",
"transcript_support_level": null
},
{
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"aa_length": 859,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3974,
"cdna_start": 2460,
"cds_end": null,
"cds_length": 2580,
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"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000960858.1",
"gene_hgnc_id": 29300,
"gene_symbol": "KANK2",
"hgvs_c": "c.2033_2034delCCinsTG",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630917.1",
"strand": false,
"transcript": "ENST00000960858.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 859,
"aa_ref": "A",
"aa_start": 678,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": 2230,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2033,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000960859.1",
"gene_hgnc_id": 29300,
"gene_symbol": "KANK2",
"hgvs_c": "c.2033_2034delCCinsTG",
"hgvs_p": "p.Ala678Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630918.1",
"strand": false,
"transcript": "ENST00000960859.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 671,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4997,
"cdna_start": 2162,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2012,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
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