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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: 12-132642215-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=132642215&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "POLE",
"hgnc_id": 9177,
"hgvs_c": "c.5135C>T",
"hgvs_p": "p.Ala1712Val",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_006231.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 903,
"alphamissense_prediction": null,
"alphamissense_score": 0.0751,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "12",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " 12, susceptibility to,Carcinoma of colon,Colorectal cancer,Hereditary cancer-predisposing syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:5 B:6",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.005181491374969482,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2286,
"aa_ref": "A",
"aa_start": 1712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7823,
"cdna_start": 5162,
"cds_end": null,
"cds_length": 6861,
"cds_start": 5135,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_006231.4",
"gene_hgnc_id": 9177,
"gene_symbol": "POLE",
"hgvs_c": "c.5135C>T",
"hgvs_p": "p.Ala1712Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000320574.10",
"protein_coding": true,
"protein_id": "NP_006222.2",
"strand": false,
"transcript": "NM_006231.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2286,
"aa_ref": "A",
"aa_start": 1712,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7823,
"cdna_start": 5162,
"cds_end": null,
"cds_length": 6861,
"cds_start": 5135,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000320574.10",
"gene_hgnc_id": 9177,
"gene_symbol": "POLE",
"hgvs_c": "c.5135C>T",
"hgvs_p": "p.Ala1712Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006231.4",
"protein_coding": true,
"protein_id": "ENSP00000322570.5",
"strand": false,
"transcript": "ENST00000320574.10",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2259,
"aa_ref": "A",
"aa_start": 1685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6800,
"cdna_start": 5067,
"cds_end": null,
"cds_length": 6780,
"cds_start": 5054,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000535270.5",
"gene_hgnc_id": 9177,
"gene_symbol": "POLE",
"hgvs_c": "c.5054C>T",
"hgvs_p": "p.Ala1685Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445753.1",
"strand": false,
"transcript": "ENST00000535270.5",
"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": 8011,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 49,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000537064.5",
"gene_hgnc_id": 9177,
"gene_symbol": "POLE",
"hgvs_c": "n.*4886C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000442578.1",
"strand": false,
"transcript": "ENST00000537064.5",
"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": 8011,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 49,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000537064.5",
"gene_hgnc_id": 9177,
"gene_symbol": "POLE",
"hgvs_c": "n.*4886C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000442578.1",
"strand": false,
"transcript": "ENST00000537064.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2256,
"aa_ref": "A",
"aa_start": 1712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7762,
"cdna_start": 5189,
"cds_end": null,
"cds_length": 6771,
"cds_start": 5135,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000937600.1",
"gene_hgnc_id": 9177,
"gene_symbol": "POLE",
"hgvs_c": "c.5135C>T",
"hgvs_p": "p.Ala1712Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607659.1",
"strand": false,
"transcript": "ENST00000937600.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2298,
"aa_ref": "A",
"aa_start": 1712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7087,
"cdna_start": 5162,
"cds_end": null,
"cds_length": 6897,
"cds_start": 5135,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "XM_011534795.4",
"gene_hgnc_id": 9177,
"gene_symbol": "POLE",
"hgvs_c": "c.5135C>T",
"hgvs_p": "p.Ala1712Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533097.1",
"strand": false,
"transcript": "XM_011534795.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1991,
"aa_ref": "A",
"aa_start": 1405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6233,
"cdna_start": 4308,
"cds_end": null,
"cds_length": 5976,
"cds_start": 4214,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_011534797.4",
"gene_hgnc_id": 9177,
"gene_symbol": "POLE",
"hgvs_c": "c.4214C>T",
"hgvs_p": "p.Ala1405Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533099.1",
"strand": false,
"transcript": "XM_011534797.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1811,
"aa_ref": "A",
"aa_start": 1712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5765,
"cdna_start": 5162,
"cds_end": null,
"cds_length": 5436,
"cds_start": 5135,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "XM_011534799.3",
"gene_hgnc_id": 9177,
"gene_symbol": "POLE",
"hgvs_c": "c.5135C>T",
"hgvs_p": "p.Ala1712Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533101.1",
"strand": false,
"transcript": "XM_011534799.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1803,
"aa_ref": "A",
"aa_start": 1712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5741,
"cdna_start": 5162,
"cds_end": null,
"cds_length": 5412,
"cds_start": 5135,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "XM_047429018.1",
"gene_hgnc_id": 9177,
"gene_symbol": "POLE",
"hgvs_c": "c.5135C>T",
"hgvs_p": "p.Ala1712Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284974.1",
"strand": false,
"transcript": "XM_047429018.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1294,
"aa_ref": "A",
"aa_start": 708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4087,
"cdna_start": 2161,
"cds_end": null,
"cds_length": 3885,
"cds_start": 2123,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011534802.4",
"gene_hgnc_id": 9177,
"gene_symbol": "POLE",
"hgvs_c": "c.2123C>T",
"hgvs_p": "p.Ala708Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011533104.1",
"strand": false,
"transcript": "XM_011534802.4",
"transcript_support_level": null
},
{
"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": 5004,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000416953.3",
"gene_hgnc_id": 9177,
"gene_symbol": "POLE",
"hgvs_c": "n.2676C>T",
"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": "ENST00000416953.3",
"transcript_support_level": 4
},
{
"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": 2406,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000434528.5",
"gene_hgnc_id": 9177,
"gene_symbol": "POLE",
"hgvs_c": "n.44C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000500921.1",
"strand": false,
"transcript": "ENST00000434528.5",
"transcript_support_level": 5
},
{
"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": 5435,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000544870.6",
"gene_hgnc_id": 9177,
"gene_symbol": "POLE",
"hgvs_c": "n.*1881C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000479927.2",
"strand": false,
"transcript": "ENST00000544870.6",
"transcript_support_level": 3
},
{
"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": 5455,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 30,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000672002.1",
"gene_hgnc_id": 9177,
"gene_symbol": "POLE",
"hgvs_c": "n.*1881C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000500233.1",
"strand": false,
"transcript": "ENST00000672002.1",
"transcript_support_level": null
},
{
"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": 8673,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 50,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000672742.1",
"gene_hgnc_id": 9177,
"gene_symbol": "POLE",
"hgvs_c": "n.*5341C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000500279.1",
"strand": false,
"transcript": "ENST00000672742.1",
"transcript_support_level": null
},
{
"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": 5450,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000699981.1",
"gene_hgnc_id": 9177,
"gene_symbol": "POLE",
"hgvs_c": "n.2789C>T",
"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": "ENST00000699981.1",
"transcript_support_level": null
},
{
"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": 7636,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 48,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000699982.1",
"gene_hgnc_id": 9177,
"gene_symbol": "POLE",
"hgvs_c": "n.*4105C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514736.1",
"strand": false,
"transcript": "ENST00000699982.1",
"transcript_support_level": null
},
{
"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": 8340,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 48,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000699983.1",
"gene_hgnc_id": 9177,
"gene_symbol": "POLE",
"hgvs_c": "n.*4809C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514737.1",
"strand": false,
"transcript": "ENST00000699983.1",
"transcript_support_level": null
},
{
"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": 7561,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 48,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000699984.1",
"gene_hgnc_id": 9177,
"gene_symbol": "POLE",
"hgvs_c": "n.*4105C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000514738.1",
"strand": false,
"transcript": "ENST00000699984.1",
"transcript_support_level": null
},
{
"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": 5435,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 30,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000544870.6",
"gene_hgnc_id": 9177,
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