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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: 17-7254644-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=7254644&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ELP5",
"hgnc_id": 30617,
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Pro84Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_015362.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000262302",
"hgnc_id": null,
"hgvs_c": "n.223+7177G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000577138.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 31,
"alphamissense_prediction": null,
"alphamissense_score": 0.0934,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2703059911727905,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 300,
"aa_ref": "P",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1491,
"cdna_start": 586,
"cds_end": null,
"cds_length": 903,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_203414.3",
"gene_hgnc_id": 30617,
"gene_symbol": "ELP5",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Pro84Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396628.7",
"protein_coding": true,
"protein_id": "NP_981959.2",
"strand": true,
"transcript": "NM_203414.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 300,
"aa_ref": "P",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1491,
"cdna_start": 586,
"cds_end": null,
"cds_length": 903,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000396628.7",
"gene_hgnc_id": 30617,
"gene_symbol": "ELP5",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Pro84Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_203414.3",
"protein_coding": true,
"protein_id": "ENSP00000379869.3",
"strand": true,
"transcript": "ENST00000396628.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 300,
"aa_ref": "P",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1389,
"cdna_start": 481,
"cds_end": null,
"cds_length": 903,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000396627.7",
"gene_hgnc_id": 30617,
"gene_symbol": "ELP5",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Pro84Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379868.3",
"strand": true,
"transcript": "ENST00000396627.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 263,
"aa_ref": "P",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2209,
"cdna_start": 515,
"cds_end": null,
"cds_length": 792,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000574993.6",
"gene_hgnc_id": 30617,
"gene_symbol": "ELP5",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Pro84Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459835.2",
"strand": true,
"transcript": "ENST00000574993.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 261,
"aa_ref": "P",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 937,
"cdna_start": 246,
"cds_end": null,
"cds_length": 786,
"cds_start": 244,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000576496.5",
"gene_hgnc_id": 30617,
"gene_symbol": "ELP5",
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Pro82Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459010.1",
"strand": true,
"transcript": "ENST00000576496.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 163,
"aa_ref": "P",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 687,
"cdna_start": 425,
"cds_end": null,
"cds_length": 492,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000573657.6",
"gene_hgnc_id": 30617,
"gene_symbol": "ELP5",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Pro84Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459633.2",
"strand": true,
"transcript": "ENST00000573657.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 489,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000577138.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000262302",
"hgvs_c": "n.223+7177G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000460571.1",
"strand": false,
"transcript": "ENST00000577138.1",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 316,
"aa_ref": "P",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1491,
"cdna_start": 586,
"cds_end": null,
"cds_length": 951,
"cds_start": 298,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000715856.1",
"gene_hgnc_id": 30617,
"gene_symbol": "ELP5",
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Pro100Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520527.1",
"strand": true,
"transcript": "ENST00000715856.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 307,
"aa_ref": "P",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1402,
"cdna_start": 482,
"cds_end": null,
"cds_length": 924,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000964725.1",
"gene_hgnc_id": 30617,
"gene_symbol": "ELP5",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Pro84Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634784.1",
"strand": true,
"transcript": "ENST00000964725.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 306,
"aa_ref": "P",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1627,
"cdna_start": 710,
"cds_end": null,
"cds_length": 921,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000888427.1",
"gene_hgnc_id": 30617,
"gene_symbol": "ELP5",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Pro84Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558486.1",
"strand": true,
"transcript": "ENST00000888427.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 300,
"aa_ref": "P",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1403,
"cdna_start": 498,
"cds_end": null,
"cds_length": 903,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_015362.5",
"gene_hgnc_id": 30617,
"gene_symbol": "ELP5",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Pro84Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056177.4",
"strand": true,
"transcript": "NM_015362.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 300,
"aa_ref": "P",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1639,
"cdna_start": 734,
"cds_end": null,
"cds_length": 903,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_203415.4",
"gene_hgnc_id": 30617,
"gene_symbol": "ELP5",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Pro84Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_981960.2",
"strand": true,
"transcript": "NM_203415.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 300,
"aa_ref": "P",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1522,
"cdna_start": 657,
"cds_end": null,
"cds_length": 903,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000354429.7",
"gene_hgnc_id": 30617,
"gene_symbol": "ELP5",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Pro84Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346412.3",
"strand": true,
"transcript": "ENST00000354429.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 300,
"aa_ref": "P",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1687,
"cdna_start": 554,
"cds_end": null,
"cds_length": 903,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000888421.1",
"gene_hgnc_id": 30617,
"gene_symbol": "ELP5",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Pro84Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558480.1",
"strand": true,
"transcript": "ENST00000888421.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 300,
"aa_ref": "P",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1616,
"cdna_start": 711,
"cds_end": null,
"cds_length": 903,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000888422.1",
"gene_hgnc_id": 30617,
"gene_symbol": "ELP5",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Pro84Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558481.1",
"strand": true,
"transcript": "ENST00000888422.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 300,
"aa_ref": "P",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1529,
"cdna_start": 624,
"cds_end": null,
"cds_length": 903,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000888423.1",
"gene_hgnc_id": 30617,
"gene_symbol": "ELP5",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Pro84Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558482.1",
"strand": true,
"transcript": "ENST00000888423.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 300,
"aa_ref": "P",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1414,
"cdna_start": 515,
"cds_end": null,
"cds_length": 903,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000888424.1",
"gene_hgnc_id": 30617,
"gene_symbol": "ELP5",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Pro84Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558483.1",
"strand": true,
"transcript": "ENST00000888424.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 300,
"aa_ref": "P",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1541,
"cdna_start": 636,
"cds_end": null,
"cds_length": 903,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000888425.1",
"gene_hgnc_id": 30617,
"gene_symbol": "ELP5",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Pro84Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558484.1",
"strand": true,
"transcript": "ENST00000888425.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 300,
"aa_ref": "P",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1548,
"cdna_start": 649,
"cds_end": null,
"cds_length": 903,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000888426.1",
"gene_hgnc_id": 30617,
"gene_symbol": "ELP5",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Pro84Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558485.1",
"strand": true,
"transcript": "ENST00000888426.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 300,
"aa_ref": "P",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1601,
"cdna_start": 696,
"cds_end": null,
"cds_length": 903,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000912605.1",
"gene_hgnc_id": 30617,
"gene_symbol": "ELP5",
"hgvs_c": "c.250C>T",
"hgvs_p": "p.Pro84Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582664.1",
"strand": true,
"transcript": "ENST00000912605.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 300,
"aa_ref": "P",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1557,
"cdna_start": 660,
"cds_end": null,
"cds_length": 903,
"cds_start": 250,
"consequences": [
"missense_variant"
],
"exon_count": 10,
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