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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: 3-184321878-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184321878&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EIF4G1",
"hgnc_id": 3296,
"hgvs_c": "c.1315A>G",
"hgvs_p": "p.Met439Val",
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001194946.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 1212868,
"alphamissense_prediction": null,
"alphamissense_score": 0.0489,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "3",
"clinvar_classification": "Benign",
"clinvar_disease": " autosomal dominant, susceptibility to,Parkinson disease 18,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 8.060674758780806e-7,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1599,
"aa_ref": "M",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5405,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 4800,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_198241.3",
"gene_hgnc_id": 3296,
"gene_symbol": "EIF4G1",
"hgvs_c": "c.1294A>G",
"hgvs_p": "p.Met432Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000346169.7",
"protein_coding": true,
"protein_id": "NP_937884.2",
"strand": true,
"transcript": "NM_198241.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1599,
"aa_ref": "M",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5405,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 4800,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000346169.7",
"gene_hgnc_id": 3296,
"gene_symbol": "EIF4G1",
"hgvs_c": "c.1294A>G",
"hgvs_p": "p.Met432Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198241.3",
"protein_coding": true,
"protein_id": "ENSP00000316879.5",
"strand": true,
"transcript": "ENST00000346169.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1606,
"aa_ref": "M",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5484,
"cdna_start": 1529,
"cds_end": null,
"cds_length": 4821,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000352767.7",
"gene_hgnc_id": 3296,
"gene_symbol": "EIF4G1",
"hgvs_c": "c.1315A>G",
"hgvs_p": "p.Met439Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000338020.4",
"strand": true,
"transcript": "ENST00000352767.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1606,
"aa_ref": "M",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5129,
"cdna_start": 1514,
"cds_end": null,
"cds_length": 4821,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000382330.7",
"gene_hgnc_id": 3296,
"gene_symbol": "EIF4G1",
"hgvs_c": "c.1315A>G",
"hgvs_p": "p.Met439Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371767.3",
"strand": true,
"transcript": "ENST00000382330.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1600,
"aa_ref": "M",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5667,
"cdna_start": 1708,
"cds_end": null,
"cds_length": 4803,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000342981.8",
"gene_hgnc_id": 3296,
"gene_symbol": "EIF4G1",
"hgvs_c": "c.1294A>G",
"hgvs_p": "p.Met432Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343450.4",
"strand": true,
"transcript": "ENST00000342981.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1560,
"aa_ref": "M",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4683,
"cdna_start": 1174,
"cds_end": null,
"cds_length": 4683,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000411531.5",
"gene_hgnc_id": 3296,
"gene_symbol": "EIF4G1",
"hgvs_c": "c.1174A>G",
"hgvs_p": "p.Met392Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395974.1",
"strand": true,
"transcript": "ENST00000411531.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1559,
"aa_ref": "M",
"aa_start": 392,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5569,
"cdna_start": 1618,
"cds_end": null,
"cds_length": 4680,
"cds_start": 1174,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000414031.5",
"gene_hgnc_id": 3296,
"gene_symbol": "EIF4G1",
"hgvs_c": "c.1174A>G",
"hgvs_p": "p.Met392Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391935.1",
"strand": true,
"transcript": "ENST00000414031.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1435,
"aa_ref": "M",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4990,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 4308,
"cds_start": 802,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000350481.9",
"gene_hgnc_id": 3296,
"gene_symbol": "EIF4G1",
"hgvs_c": "c.802A>G",
"hgvs_p": "p.Met268Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000317600.8",
"strand": true,
"transcript": "ENST00000350481.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 756,
"aa_ref": "M",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2384,
"cdna_start": 915,
"cds_end": null,
"cds_length": 2271,
"cds_start": 802,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000444861.5",
"gene_hgnc_id": 3296,
"gene_symbol": "EIF4G1",
"hgvs_c": "c.802A>G",
"hgvs_p": "p.Met268Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398145.1",
"strand": true,
"transcript": "ENST00000444861.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5129,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000442406.5",
"gene_hgnc_id": 3296,
"gene_symbol": "EIF4G1",
"hgvs_c": "n.*733A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000400351.1",
"strand": true,
"transcript": "ENST00000442406.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5129,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 29,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000442406.5",
"gene_hgnc_id": 3296,
"gene_symbol": "EIF4G1",
"hgvs_c": "n.*733A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000400351.1",
"strand": true,
"transcript": "ENST00000442406.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1606,
"aa_ref": "M",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5426,
"cdna_start": 1475,
"cds_end": null,
"cds_length": 4821,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001194946.2",
"gene_hgnc_id": 3296,
"gene_symbol": "EIF4G1",
"hgvs_c": "c.1315A>G",
"hgvs_p": "p.Met439Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001181875.2",
"strand": true,
"transcript": "NM_001194946.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1606,
"aa_ref": "M",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5369,
"cdna_start": 1418,
"cds_end": null,
"cds_length": 4821,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001194947.2",
"gene_hgnc_id": 3296,
"gene_symbol": "EIF4G1",
"hgvs_c": "c.1315A>G",
"hgvs_p": "p.Met439Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001181876.2",
"strand": true,
"transcript": "NM_001194947.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1606,
"aa_ref": "M",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5653,
"cdna_start": 1704,
"cds_end": null,
"cds_length": 4821,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000424196.5",
"gene_hgnc_id": 3296,
"gene_symbol": "EIF4G1",
"hgvs_c": "c.1315A>G",
"hgvs_p": "p.Met439Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416255.1",
"strand": true,
"transcript": "ENST00000424196.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1600,
"aa_ref": "M",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5669,
"cdna_start": 1710,
"cds_end": null,
"cds_length": 4803,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_182917.4",
"gene_hgnc_id": 3296,
"gene_symbol": "EIF4G1",
"hgvs_c": "c.1294A>G",
"hgvs_p": "p.Met432Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_886553.3",
"strand": true,
"transcript": "NM_182917.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1599,
"aa_ref": "M",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5469,
"cdna_start": 1513,
"cds_end": null,
"cds_length": 4800,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000891266.1",
"gene_hgnc_id": 3296,
"gene_symbol": "EIF4G1",
"hgvs_c": "c.1294A>G",
"hgvs_p": "p.Met432Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561325.1",
"strand": true,
"transcript": "ENST00000891266.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1599,
"aa_ref": "M",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5493,
"cdna_start": 1544,
"cds_end": null,
"cds_length": 4800,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000891267.1",
"gene_hgnc_id": 3296,
"gene_symbol": "EIF4G1",
"hgvs_c": "c.1294A>G",
"hgvs_p": "p.Met432Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561326.1",
"strand": true,
"transcript": "ENST00000891267.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1599,
"aa_ref": "M",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5501,
"cdna_start": 1554,
"cds_end": null,
"cds_length": 4800,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000891269.1",
"gene_hgnc_id": 3296,
"gene_symbol": "EIF4G1",
"hgvs_c": "c.1294A>G",
"hgvs_p": "p.Met432Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561328.1",
"strand": true,
"transcript": "ENST00000891269.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1599,
"aa_ref": "M",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5881,
"cdna_start": 1925,
"cds_end": null,
"cds_length": 4800,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000891270.1",
"gene_hgnc_id": 3296,
"gene_symbol": "EIF4G1",
"hgvs_c": "c.1294A>G",
"hgvs_p": "p.Met432Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561329.1",
"strand": true,
"transcript": "ENST00000891270.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1599,
"aa_ref": "M",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5299,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 4800,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000891271.1",
"gene_hgnc_id": 3296,
"gene_symbol": "EIF4G1",
"hgvs_c": "c.1294A>G",
"hgvs_p": "p.Met432Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561330.1",
"strand": true,
"transcript": "ENST00000891271.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1598,
"aa_ref": "M",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5476,
"cdna_start": 1529,
"cds_end": null,
"cds_length": 4797,
"cds_start": 1294,
"consequences": [
"missense_variant"
],
"exon_count": 33,
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