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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: 6-36684112-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=36684112&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CDKN1A",
"hgnc_id": 1784,
"hgvs_c": "c.113C>T",
"hgvs_p": "p.Pro38Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_001291549.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BS1,BS2",
"acmg_score": -14,
"allele_count_reference_population": 1552,
"alphamissense_prediction": null,
"alphamissense_score": 0.0918,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "6",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0025286972522735596,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 164,
"aa_ref": "P",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2117,
"cdna_start": 101,
"cds_end": null,
"cds_length": 495,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_000389.5",
"gene_hgnc_id": 1784,
"gene_symbol": "CDKN1A",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000244741.10",
"protein_coding": true,
"protein_id": "NP_000380.1",
"strand": true,
"transcript": "NM_000389.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 164,
"aa_ref": "P",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2117,
"cdna_start": 101,
"cds_end": null,
"cds_length": 495,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000244741.10",
"gene_hgnc_id": 1784,
"gene_symbol": "CDKN1A",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000389.5",
"protein_coding": true,
"protein_id": "ENSP00000244741.6",
"strand": true,
"transcript": "ENST00000244741.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 164,
"aa_ref": "P",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2267,
"cdna_start": 246,
"cds_end": null,
"cds_length": 495,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000405375.5",
"gene_hgnc_id": 1784,
"gene_symbol": "CDKN1A",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384849.1",
"strand": true,
"transcript": "ENST00000405375.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 198,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": 362,
"cds_end": null,
"cds_length": 597,
"cds_start": 113,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001291549.3",
"gene_hgnc_id": 1784,
"gene_symbol": "CDKN1A",
"hgvs_c": "c.113C>T",
"hgvs_p": "p.Pro38Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278478.1",
"strand": true,
"transcript": "NM_001291549.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 198,
"aa_ref": "P",
"aa_start": 38,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2286,
"cdna_start": 270,
"cds_end": null,
"cds_length": 597,
"cds_start": 113,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001374509.1",
"gene_hgnc_id": 1784,
"gene_symbol": "CDKN1A",
"hgvs_c": "c.113C>T",
"hgvs_p": "p.Pro38Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361438.1",
"strand": true,
"transcript": "NM_001374509.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 197,
"aa_ref": "P",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2216,
"cdna_start": 101,
"cds_end": null,
"cds_length": 594,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001374511.1",
"gene_hgnc_id": 1784,
"gene_symbol": "CDKN1A",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361440.1",
"strand": true,
"transcript": "NM_001374511.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 177,
"aa_ref": "P",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 124,
"cds_end": null,
"cds_length": 534,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001374510.1",
"gene_hgnc_id": 1784,
"gene_symbol": "CDKN1A",
"hgvs_c": "c.50C>T",
"hgvs_p": "p.Pro17Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361439.1",
"strand": true,
"transcript": "NM_001374510.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 167,
"aa_ref": "P",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2416,
"cdna_start": 101,
"cds_end": null,
"cds_length": 504,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001374512.1",
"gene_hgnc_id": 1784,
"gene_symbol": "CDKN1A",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361441.1",
"strand": true,
"transcript": "NM_001374512.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 164,
"aa_ref": "P",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2094,
"cdna_start": 78,
"cds_end": null,
"cds_length": 495,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001220777.2",
"gene_hgnc_id": 1784,
"gene_symbol": "CDKN1A",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001207706.1",
"strand": true,
"transcript": "NM_001220777.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 164,
"aa_ref": "P",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2258,
"cdna_start": 242,
"cds_end": null,
"cds_length": 495,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001220778.2",
"gene_hgnc_id": 1784,
"gene_symbol": "CDKN1A",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001207707.1",
"strand": true,
"transcript": "NM_001220778.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 164,
"aa_ref": "P",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 208,
"cds_end": null,
"cds_length": 495,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001374513.1",
"gene_hgnc_id": 1784,
"gene_symbol": "CDKN1A",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361442.1",
"strand": true,
"transcript": "NM_001374513.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 164,
"aa_ref": "P",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2126,
"cdna_start": 110,
"cds_end": null,
"cds_length": 495,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_078467.3",
"gene_hgnc_id": 1784,
"gene_symbol": "CDKN1A",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_510867.1",
"strand": true,
"transcript": "NM_078467.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 164,
"aa_ref": "P",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": 185,
"cds_end": null,
"cds_length": 495,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000373711.4",
"gene_hgnc_id": 1784,
"gene_symbol": "CDKN1A",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362815.1",
"strand": true,
"transcript": "ENST00000373711.4",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 164,
"aa_ref": "P",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2104,
"cdna_start": 83,
"cds_end": null,
"cds_length": 495,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000448526.6",
"gene_hgnc_id": 1784,
"gene_symbol": "CDKN1A",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409259.3",
"strand": true,
"transcript": "ENST00000448526.6",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 164,
"aa_ref": "P",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2102,
"cdna_start": 81,
"cds_end": null,
"cds_length": 495,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000615513.4",
"gene_hgnc_id": 1784,
"gene_symbol": "CDKN1A",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482768.1",
"strand": true,
"transcript": "ENST00000615513.4",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 164,
"aa_ref": "P",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2132,
"cdna_start": 109,
"cds_end": null,
"cds_length": 495,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000864199.1",
"gene_hgnc_id": 1784,
"gene_symbol": "CDKN1A",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534258.1",
"strand": true,
"transcript": "ENST00000864199.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 164,
"aa_ref": "P",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2149,
"cdna_start": 135,
"cds_end": null,
"cds_length": 495,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000864200.1",
"gene_hgnc_id": 1784,
"gene_symbol": "CDKN1A",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534259.1",
"strand": true,
"transcript": "ENST00000864200.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 164,
"aa_ref": "P",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2250,
"cdna_start": 227,
"cds_end": null,
"cds_length": 495,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000864201.1",
"gene_hgnc_id": 1784,
"gene_symbol": "CDKN1A",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534260.1",
"strand": true,
"transcript": "ENST00000864201.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 164,
"aa_ref": "P",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 208,
"cds_end": null,
"cds_length": 495,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000864202.1",
"gene_hgnc_id": 1784,
"gene_symbol": "CDKN1A",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534261.1",
"strand": true,
"transcript": "ENST00000864202.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 164,
"aa_ref": "P",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2235,
"cdna_start": 221,
"cds_end": null,
"cds_length": 495,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000864203.1",
"gene_hgnc_id": 1784,
"gene_symbol": "CDKN1A",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534262.1",
"strand": true,
"transcript": "ENST00000864203.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 164,
"aa_ref": "P",
"aa_start": 4,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2246,
"cdna_start": 232,
"cds_end": null,
"cds_length": 495,
"cds_start": 11,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000864204.1",
"gene_hgnc_id": 1784,
"gene_symbol": "CDKN1A",
"hgvs_c": "c.11C>T",
"hgvs_p": "p.Pro4Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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