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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: 3-53811268-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=53811268&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CACNA1D",
"hgnc_id": 1391,
"hgvs_c": "c.6408C>G",
"hgvs_p": "p.Asn2136Lys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_000720.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.236,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.20752960443496704,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2181,
"aa_ref": "N",
"aa_start": 2136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9429,
"cdna_start": 6964,
"cds_end": null,
"cds_length": 6546,
"cds_start": 6408,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "NM_000720.4",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.6408C>G",
"hgvs_p": "p.Asn2136Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000288139.11",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000711.1",
"strand": true,
"transcript": "NM_000720.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2181,
"aa_ref": "N",
"aa_start": 2136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9429,
"cdna_start": 6964,
"cds_end": null,
"cds_length": 6546,
"cds_start": 6408,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000288139.11",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.6408C>G",
"hgvs_p": "p.Asn2136Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_000720.4",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000288139.3",
"strand": true,
"transcript": "ENST00000288139.11",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2161,
"aa_ref": "N",
"aa_start": 2116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9369,
"cdna_start": 6904,
"cds_end": null,
"cds_length": 6486,
"cds_start": 6348,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "NM_001128840.3",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.6348C>G",
"hgvs_p": "p.Asn2116Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000350061.11",
"protein_coding": true,
"protein_id": "NP_001122312.1",
"strand": true,
"transcript": "NM_001128840.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2161,
"aa_ref": "N",
"aa_start": 2116,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9369,
"cdna_start": 6904,
"cds_end": null,
"cds_length": 6486,
"cds_start": 6348,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "ENST00000350061.11",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.6348C>G",
"hgvs_p": "p.Asn2116Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001128840.3",
"protein_coding": true,
"protein_id": "ENSP00000288133.5",
"strand": true,
"transcript": "ENST00000350061.11",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2181,
"aa_ref": "N",
"aa_start": 2136,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7204,
"cdna_start": 6964,
"cds_end": null,
"cds_length": 6546,
"cds_start": 6408,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000481478.2",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.6408C>G",
"hgvs_p": "p.Asn2136Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418014.2",
"strand": true,
"transcript": "ENST00000481478.2",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2137,
"aa_ref": "N",
"aa_start": 2092,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7211,
"cdna_start": 6276,
"cds_end": null,
"cds_length": 6414,
"cds_start": 6276,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000422281.7",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.6276C>G",
"hgvs_p": "p.Asn2092Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409174.2",
"strand": true,
"transcript": "ENST00000422281.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2185,
"aa_ref": "N",
"aa_start": 2140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7832,
"cdna_start": 6641,
"cds_end": null,
"cds_length": 6558,
"cds_start": 6420,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "ENST00000954170.1",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.6420C>G",
"hgvs_p": "p.Asn2140Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624229.1",
"strand": true,
"transcript": "ENST00000954170.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2170,
"aa_ref": "N",
"aa_start": 2125,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6856,
"cdna_start": 6718,
"cds_end": null,
"cds_length": 6513,
"cds_start": 6375,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000637424.1",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.6375C>G",
"hgvs_p": "p.Asn2125Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489769.1",
"strand": true,
"transcript": "ENST00000637424.1",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2146,
"aa_ref": "N",
"aa_start": 2101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6441,
"cdna_start": 6303,
"cds_end": null,
"cds_length": 6441,
"cds_start": 6303,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 47,
"exon_rank_end": null,
"feature": "ENST00000636570.1",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.6303C>G",
"hgvs_p": "p.Asn2101Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490183.1",
"strand": true,
"transcript": "ENST00000636570.1",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2137,
"aa_ref": "N",
"aa_start": 2092,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9297,
"cdna_start": 6832,
"cds_end": null,
"cds_length": 6414,
"cds_start": 6276,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001128839.3",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.6276C>G",
"hgvs_p": "p.Asn2092Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001122311.1",
"strand": true,
"transcript": "NM_001128839.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2246,
"aa_ref": "N",
"aa_start": 2201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9083,
"cdna_start": 6618,
"cds_end": null,
"cds_length": 6741,
"cds_start": 6603,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "XM_011534094.3",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.6603C>G",
"hgvs_p": "p.Asn2201Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011532396.1",
"strand": true,
"transcript": "XM_011534094.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2246,
"aa_ref": "N",
"aa_start": 2201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9083,
"cdna_start": 6618,
"cds_end": null,
"cds_length": 6741,
"cds_start": 6603,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "XM_017007137.2",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.6603C>G",
"hgvs_p": "p.Asn2201Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862626.1",
"strand": true,
"transcript": "XM_017007137.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2245,
"aa_ref": "N",
"aa_start": 2200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9080,
"cdna_start": 6615,
"cds_end": null,
"cds_length": 6738,
"cds_start": 6600,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 50,
"exon_rank_end": null,
"feature": "XM_017007138.2",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.6600C>G",
"hgvs_p": "p.Asn2200Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862627.1",
"strand": true,
"transcript": "XM_017007138.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2237,
"aa_ref": "N",
"aa_start": 2192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9056,
"cdna_start": 6591,
"cds_end": null,
"cds_length": 6714,
"cds_start": 6576,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "XM_017007139.2",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.6576C>G",
"hgvs_p": "p.Asn2192Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862628.1",
"strand": true,
"transcript": "XM_017007139.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2226,
"aa_ref": "N",
"aa_start": 2181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9023,
"cdna_start": 6558,
"cds_end": null,
"cds_length": 6681,
"cds_start": 6543,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "XM_017007140.2",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.6543C>G",
"hgvs_p": "p.Asn2181Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862629.1",
"strand": true,
"transcript": "XM_017007140.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2226,
"aa_ref": "N",
"aa_start": 2181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9023,
"cdna_start": 6558,
"cds_end": null,
"cds_length": 6681,
"cds_start": 6543,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "XM_017007141.2",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.6543C>G",
"hgvs_p": "p.Asn2181Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862630.1",
"strand": true,
"transcript": "XM_017007141.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2222,
"aa_ref": "N",
"aa_start": 2177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9011,
"cdna_start": 6546,
"cds_end": null,
"cds_length": 6669,
"cds_start": 6531,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 48,
"exon_rank_end": null,
"feature": "XM_047448871.1",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.6531C>G",
"hgvs_p": "p.Asn2177Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304827.1",
"strand": true,
"transcript": "XM_047448871.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2218,
"aa_ref": "N",
"aa_start": 2173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8999,
"cdna_start": 6534,
"cds_end": null,
"cds_length": 6657,
"cds_start": 6519,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "XM_017007142.2",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.6519C>G",
"hgvs_p": "p.Asn2173Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862631.1",
"strand": true,
"transcript": "XM_017007142.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2218,
"aa_ref": "N",
"aa_start": 2173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8999,
"cdna_start": 6534,
"cds_end": null,
"cds_length": 6657,
"cds_start": 6519,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "XM_017007143.2",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.6519C>G",
"hgvs_p": "p.Asn2173Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862632.1",
"strand": true,
"transcript": "XM_017007143.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2218,
"aa_ref": "N",
"aa_start": 2173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8999,
"cdna_start": 6534,
"cds_end": null,
"cds_length": 6657,
"cds_start": 6519,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 49,
"exon_rank_end": null,
"feature": "XM_017007144.2",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.6519C>G",
"hgvs_p": "p.Asn2173Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862633.1",
"strand": true,
"transcript": "XM_017007144.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2211,
"aa_ref": "N",
"aa_start": 2166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8978,
"cdna_start": 6513,
"cds_end": null,
"cds_length": 6636,
"cds_start": 6498,
"consequences": [
"missense_variant"
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