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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: 17-61078393-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=61078393&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BCAS3",
"hgnc_id": 14347,
"hgvs_c": "c.2326T>A",
"hgvs_p": "p.Phe776Ile",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001353144.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "BCAS3-AS1",
"hgnc_id": 56376,
"hgvs_c": "n.147-7511A>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "NR_186505.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9966,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.27,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8529773950576782,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 913,
"aa_ref": "F",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3517,
"cdna_start": 2260,
"cds_end": null,
"cds_length": 2742,
"cds_start": 2191,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_017679.5",
"gene_hgnc_id": 14347,
"gene_symbol": "BCAS3",
"hgvs_c": "c.2191T>A",
"hgvs_p": "p.Phe731Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000407086.8",
"protein_coding": true,
"protein_id": "NP_060149.3",
"strand": true,
"transcript": "NM_017679.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 913,
"aa_ref": "F",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3517,
"cdna_start": 2260,
"cds_end": null,
"cds_length": 2742,
"cds_start": 2191,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000407086.8",
"gene_hgnc_id": 14347,
"gene_symbol": "BCAS3",
"hgvs_c": "c.2191T>A",
"hgvs_p": "p.Phe731Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017679.5",
"protein_coding": true,
"protein_id": "ENSP00000385323.2",
"strand": true,
"transcript": "ENST00000407086.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 928,
"aa_ref": "F",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3531,
"cdna_start": 2267,
"cds_end": null,
"cds_length": 2787,
"cds_start": 2236,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000390652.9",
"gene_hgnc_id": 14347,
"gene_symbol": "BCAS3",
"hgvs_c": "c.2236T>A",
"hgvs_p": "p.Phe746Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375067.4",
"strand": true,
"transcript": "ENST00000390652.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 928,
"aa_ref": "F",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3673,
"cdna_start": 2259,
"cds_end": null,
"cds_length": 2787,
"cds_start": 2191,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000589222.5",
"gene_hgnc_id": 14347,
"gene_symbol": "BCAS3",
"hgvs_c": "c.2191T>A",
"hgvs_p": "p.Phe731Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466078.1",
"strand": true,
"transcript": "ENST00000589222.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 958,
"aa_ref": "F",
"aa_start": 776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3652,
"cdna_start": 2395,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2326,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001353144.2",
"gene_hgnc_id": 14347,
"gene_symbol": "BCAS3",
"hgvs_c": "c.2326T>A",
"hgvs_p": "p.Phe776Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340073.1",
"strand": true,
"transcript": "NM_001353144.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 950,
"aa_ref": "F",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3628,
"cdna_start": 2305,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2236,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001330413.2",
"gene_hgnc_id": 14347,
"gene_symbol": "BCAS3",
"hgvs_c": "c.2236T>A",
"hgvs_p": "p.Phe746Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317342.1",
"strand": true,
"transcript": "NM_001330413.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 950,
"aa_ref": "F",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3559,
"cdna_start": 2236,
"cds_end": null,
"cds_length": 2853,
"cds_start": 2236,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000588462.5",
"gene_hgnc_id": 14347,
"gene_symbol": "BCAS3",
"hgvs_c": "c.2236T>A",
"hgvs_p": "p.Phe746Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468592.1",
"strand": true,
"transcript": "ENST00000588462.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 943,
"aa_ref": "F",
"aa_start": 761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3607,
"cdna_start": 2350,
"cds_end": null,
"cds_length": 2832,
"cds_start": 2281,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001353145.2",
"gene_hgnc_id": 14347,
"gene_symbol": "BCAS3",
"hgvs_c": "c.2281T>A",
"hgvs_p": "p.Phe761Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340074.1",
"strand": true,
"transcript": "NM_001353145.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 935,
"aa_ref": "F",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3583,
"cdna_start": 2260,
"cds_end": null,
"cds_length": 2808,
"cds_start": 2191,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001330414.2",
"gene_hgnc_id": 14347,
"gene_symbol": "BCAS3",
"hgvs_c": "c.2191T>A",
"hgvs_p": "p.Phe731Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317343.1",
"strand": true,
"transcript": "NM_001330414.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 935,
"aa_ref": "F",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3514,
"cdna_start": 2191,
"cds_end": null,
"cds_length": 2808,
"cds_start": 2191,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000408905.7",
"gene_hgnc_id": 14347,
"gene_symbol": "BCAS3",
"hgvs_c": "c.2191T>A",
"hgvs_p": "p.Phe731Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386173.2",
"strand": true,
"transcript": "ENST00000408905.7",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 928,
"aa_ref": "F",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3562,
"cdna_start": 2305,
"cds_end": null,
"cds_length": 2787,
"cds_start": 2236,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001099432.3",
"gene_hgnc_id": 14347,
"gene_symbol": "BCAS3",
"hgvs_c": "c.2236T>A",
"hgvs_p": "p.Phe746Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001092902.1",
"strand": true,
"transcript": "NM_001099432.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 928,
"aa_ref": "F",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3674,
"cdna_start": 2260,
"cds_end": null,
"cds_length": 2787,
"cds_start": 2191,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001320470.3",
"gene_hgnc_id": 14347,
"gene_symbol": "BCAS3",
"hgvs_c": "c.2191T>A",
"hgvs_p": "p.Phe731Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307399.1",
"strand": true,
"transcript": "NM_001320470.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 921,
"aa_ref": "F",
"aa_start": 746,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3653,
"cdna_start": 2305,
"cds_end": null,
"cds_length": 2766,
"cds_start": 2236,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001353146.2",
"gene_hgnc_id": 14347,
"gene_symbol": "BCAS3",
"hgvs_c": "c.2236T>A",
"hgvs_p": "p.Phe746Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340075.1",
"strand": true,
"transcript": "NM_001353146.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 699,
"aa_ref": "F",
"aa_start": 517,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2203,
"cdna_start": 1652,
"cds_end": null,
"cds_length": 2100,
"cds_start": 1549,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000585744.5",
"gene_hgnc_id": 14347,
"gene_symbol": "BCAS3",
"hgvs_c": "c.1549T>A",
"hgvs_p": "p.Phe517Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468682.1",
"strand": true,
"transcript": "ENST00000585744.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 684,
"aa_ref": "F",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2948,
"cdna_start": 1692,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1504,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000588874.5",
"gene_hgnc_id": 14347,
"gene_symbol": "BCAS3",
"hgvs_c": "c.1504T>A",
"hgvs_p": "p.Phe502Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464825.1",
"strand": true,
"transcript": "ENST00000588874.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 919,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000585979.5",
"gene_hgnc_id": 14347,
"gene_symbol": "BCAS3",
"hgvs_c": "n.669T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000585979.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 733,
"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": "ENST00000588604.2",
"gene_hgnc_id": 56376,
"gene_symbol": "BCAS3-AS1",
"hgvs_c": "n.179-8270A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000588604.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 954,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000717192.1",
"gene_hgnc_id": 56376,
"gene_symbol": "BCAS3-AS1",
"hgvs_c": "n.262-7511A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000717192.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 633,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000821413.1",
"gene_hgnc_id": 56376,
"gene_symbol": "BCAS3-AS1",
"hgvs_c": "n.156-8270A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000821413.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 645,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000821414.1",
"gene_hgnc_id": 56376,
"gene_symbol": "BCAS3-AS1",
"hgvs_c": "n.210-42009A>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000821414.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 613,
"cdna_start": null,
"cds_end": null,
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