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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: 12-68869360-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=68869360&ref=C&alt=G&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": "CPM",
"hgnc_id": 2311,
"hgvs_c": "c.788G>C",
"hgvs_p": "p.Gly263Ala",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001413387.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.7116,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.12,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Autism",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9051116108894348,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 443,
"aa_ref": "G",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6627,
"cdna_start": 785,
"cds_end": null,
"cds_length": 1332,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_198320.5",
"gene_hgnc_id": 2311,
"gene_symbol": "CPM",
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Gly251Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000551568.6",
"protein_coding": true,
"protein_id": "NP_938079.1",
"strand": false,
"transcript": "NM_198320.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 443,
"aa_ref": "G",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6627,
"cdna_start": 785,
"cds_end": null,
"cds_length": 1332,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000551568.6",
"gene_hgnc_id": 2311,
"gene_symbol": "CPM",
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Gly251Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198320.5",
"protein_coding": true,
"protein_id": "ENSP00000448517.1",
"strand": false,
"transcript": "ENST00000551568.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 443,
"aa_ref": "G",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6636,
"cdna_start": 799,
"cds_end": null,
"cds_length": 1332,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000338356.7",
"gene_hgnc_id": 2311,
"gene_symbol": "CPM",
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Gly251Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339157.3",
"strand": false,
"transcript": "ENST00000338356.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 443,
"aa_ref": "G",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2116,
"cdna_start": 856,
"cds_end": null,
"cds_length": 1332,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000546373.5",
"gene_hgnc_id": 2311,
"gene_symbol": "CPM",
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Gly251Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447255.1",
"strand": false,
"transcript": "ENST00000546373.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 465,
"aa_ref": "G",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2138,
"cdna_start": 851,
"cds_end": null,
"cds_length": 1398,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000894617.1",
"gene_hgnc_id": 2311,
"gene_symbol": "CPM",
"hgvs_c": "c.818G>C",
"hgvs_p": "p.Gly273Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564676.1",
"strand": false,
"transcript": "ENST00000894617.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 455,
"aa_ref": "G",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6663,
"cdna_start": 821,
"cds_end": null,
"cds_length": 1368,
"cds_start": 788,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001413387.1",
"gene_hgnc_id": 2311,
"gene_symbol": "CPM",
"hgvs_c": "c.788G>C",
"hgvs_p": "p.Gly263Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400316.1",
"strand": false,
"transcript": "NM_001413387.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 455,
"aa_ref": "G",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2159,
"cdna_start": 821,
"cds_end": null,
"cds_length": 1368,
"cds_start": 788,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000894616.1",
"gene_hgnc_id": 2311,
"gene_symbol": "CPM",
"hgvs_c": "c.788G>C",
"hgvs_p": "p.Gly263Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564675.1",
"strand": false,
"transcript": "ENST00000894616.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 443,
"aa_ref": "G",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6637,
"cdna_start": 795,
"cds_end": null,
"cds_length": 1332,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001005502.3",
"gene_hgnc_id": 2311,
"gene_symbol": "CPM",
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Gly251Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005502.1",
"strand": false,
"transcript": "NM_001005502.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 443,
"aa_ref": "G",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7027,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 1332,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001413388.1",
"gene_hgnc_id": 2311,
"gene_symbol": "CPM",
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Gly251Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400317.1",
"strand": false,
"transcript": "NM_001413388.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 443,
"aa_ref": "G",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6627,
"cdna_start": 785,
"cds_end": null,
"cds_length": 1332,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001413389.1",
"gene_hgnc_id": 2311,
"gene_symbol": "CPM",
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Gly251Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400318.1",
"strand": false,
"transcript": "NM_001413389.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 443,
"aa_ref": "G",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6654,
"cdna_start": 812,
"cds_end": null,
"cds_length": 1332,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001413390.1",
"gene_hgnc_id": 2311,
"gene_symbol": "CPM",
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Gly251Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400319.1",
"strand": false,
"transcript": "NM_001413390.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 443,
"aa_ref": "G",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6639,
"cdna_start": 797,
"cds_end": null,
"cds_length": 1332,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001413391.1",
"gene_hgnc_id": 2311,
"gene_symbol": "CPM",
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Gly251Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400320.1",
"strand": false,
"transcript": "NM_001413391.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 443,
"aa_ref": "G",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6898,
"cdna_start": 1056,
"cds_end": null,
"cds_length": 1332,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001874.5",
"gene_hgnc_id": 2311,
"gene_symbol": "CPM",
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Gly251Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001865.1",
"strand": false,
"transcript": "NM_001874.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 443,
"aa_ref": "G",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3001,
"cdna_start": 824,
"cds_end": null,
"cds_length": 1332,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000894614.1",
"gene_hgnc_id": 2311,
"gene_symbol": "CPM",
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Gly251Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564673.1",
"strand": false,
"transcript": "ENST00000894614.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 443,
"aa_ref": "G",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2471,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 1332,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000894615.1",
"gene_hgnc_id": 2311,
"gene_symbol": "CPM",
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Gly251Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564674.1",
"strand": false,
"transcript": "ENST00000894615.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 443,
"aa_ref": "G",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2274,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1332,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000961569.1",
"gene_hgnc_id": 2311,
"gene_symbol": "CPM",
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Gly251Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631628.1",
"strand": false,
"transcript": "ENST00000961569.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 443,
"aa_ref": "G",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1332,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000961570.1",
"gene_hgnc_id": 2311,
"gene_symbol": "CPM",
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Gly251Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631629.1",
"strand": false,
"transcript": "ENST00000961570.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 443,
"aa_ref": "G",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2101,
"cdna_start": 841,
"cds_end": null,
"cds_length": 1332,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000961572.1",
"gene_hgnc_id": 2311,
"gene_symbol": "CPM",
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Gly251Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631631.1",
"strand": false,
"transcript": "ENST00000961572.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 443,
"aa_ref": "G",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2091,
"cdna_start": 812,
"cds_end": null,
"cds_length": 1332,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000961573.1",
"gene_hgnc_id": 2311,
"gene_symbol": "CPM",
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Gly251Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631632.1",
"strand": false,
"transcript": "ENST00000961573.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 443,
"aa_ref": "G",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2091,
"cdna_start": 812,
"cds_end": null,
"cds_length": 1332,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000961574.1",
"gene_hgnc_id": 2311,
"gene_symbol": "CPM",
"hgvs_c": "c.752G>C",
"hgvs_p": "p.Gly251Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631633.1",
"strand": false,
"transcript": "ENST00000961574.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 440,
"aa_ref": "G",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2036,
"cdna_start": 776,
"cds_end": null,
"cds_length": 1323,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000961575.1",
"gene_hgnc_id": 2311,
"gene_symbol": "CPM",
"hgvs_c": "c.743G>C",
"hgvs_p": "p.Gly248Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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]
}