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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: 12-8939418-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=8939418&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PHC1",
"hgnc_id": 3182,
"hgvs_c": "c.2974C>T",
"hgvs_p": "p.Leu992Phe",
"inheritance_mode": "AR",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_004426.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9998,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.22,
"chr": "12",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": " autosomal recessive, primary,Intellectual disability,Microcephaly 11,Primary microcephaly",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8594987392425537,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "L",
"aa_start": 992,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5390,
"cdna_start": 3341,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2974,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_004426.3",
"gene_hgnc_id": 3182,
"gene_symbol": "PHC1",
"hgvs_c": "c.2974C>T",
"hgvs_p": "p.Leu992Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000544916.6",
"protein_coding": true,
"protein_id": "NP_004417.2",
"strand": true,
"transcript": "NM_004426.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "L",
"aa_start": 992,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5390,
"cdna_start": 3341,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2974,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000544916.6",
"gene_hgnc_id": 3182,
"gene_symbol": "PHC1",
"hgvs_c": "c.2974C>T",
"hgvs_p": "p.Leu992Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004426.3",
"protein_coding": true,
"protein_id": "ENSP00000437659.1",
"strand": true,
"transcript": "ENST00000544916.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "L",
"aa_start": 992,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4292,
"cdna_start": 3306,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2974,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000543824.5",
"gene_hgnc_id": 3182,
"gene_symbol": "PHC1",
"hgvs_c": "c.2974C>T",
"hgvs_p": "p.Leu992Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440674.1",
"strand": true,
"transcript": "ENST00000543824.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 959,
"aa_ref": "L",
"aa_start": 947,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5033,
"cdna_start": 2984,
"cds_end": null,
"cds_length": 2880,
"cds_start": 2839,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000433083.6",
"gene_hgnc_id": 3182,
"gene_symbol": "PHC1",
"hgvs_c": "c.2839C>T",
"hgvs_p": "p.Leu947Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399194.2",
"strand": true,
"transcript": "ENST00000433083.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3869,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000540574.5",
"gene_hgnc_id": 3182,
"gene_symbol": "PHC1",
"hgvs_c": "n.*1824C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000444308.1",
"strand": true,
"transcript": "ENST00000540574.5",
"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": 3869,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000540574.5",
"gene_hgnc_id": 3182,
"gene_symbol": "PHC1",
"hgvs_c": "n.*1824C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000444308.1",
"strand": true,
"transcript": "ENST00000540574.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1010,
"aa_ref": "L",
"aa_start": 998,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5400,
"cdna_start": 3351,
"cds_end": null,
"cds_length": 3033,
"cds_start": 2992,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000936637.1",
"gene_hgnc_id": 3182,
"gene_symbol": "PHC1",
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Leu998Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606696.1",
"strand": true,
"transcript": "ENST00000936637.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "L",
"aa_start": 992,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5179,
"cdna_start": 3130,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2974,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001413738.1",
"gene_hgnc_id": 3182,
"gene_symbol": "PHC1",
"hgvs_c": "c.2974C>T",
"hgvs_p": "p.Leu992Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400667.1",
"strand": true,
"transcript": "NM_001413738.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "L",
"aa_start": 992,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4288,
"cdna_start": 3413,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2974,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000891310.1",
"gene_hgnc_id": 3182,
"gene_symbol": "PHC1",
"hgvs_c": "c.2974C>T",
"hgvs_p": "p.Leu992Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561369.1",
"strand": true,
"transcript": "ENST00000891310.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "L",
"aa_start": 992,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5191,
"cdna_start": 3142,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2974,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000936667.1",
"gene_hgnc_id": 3182,
"gene_symbol": "PHC1",
"hgvs_c": "c.2974C>T",
"hgvs_p": "p.Leu992Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606726.1",
"strand": true,
"transcript": "ENST00000936667.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "L",
"aa_start": 992,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5361,
"cdna_start": 3312,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2974,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000936668.1",
"gene_hgnc_id": 3182,
"gene_symbol": "PHC1",
"hgvs_c": "c.2974C>T",
"hgvs_p": "p.Leu992Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606727.1",
"strand": true,
"transcript": "ENST00000936668.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "L",
"aa_start": 992,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5663,
"cdna_start": 3614,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2974,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000936669.1",
"gene_hgnc_id": 3182,
"gene_symbol": "PHC1",
"hgvs_c": "c.2974C>T",
"hgvs_p": "p.Leu992Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606728.1",
"strand": true,
"transcript": "ENST00000936669.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "L",
"aa_start": 992,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7023,
"cdna_start": 4974,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2974,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000936671.1",
"gene_hgnc_id": 3182,
"gene_symbol": "PHC1",
"hgvs_c": "c.2974C>T",
"hgvs_p": "p.Leu992Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606730.1",
"strand": true,
"transcript": "ENST00000936671.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "L",
"aa_start": 992,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6295,
"cdna_start": 4246,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2974,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000936673.1",
"gene_hgnc_id": 3182,
"gene_symbol": "PHC1",
"hgvs_c": "c.2974C>T",
"hgvs_p": "p.Leu992Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606732.1",
"strand": true,
"transcript": "ENST00000936673.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "L",
"aa_start": 992,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6168,
"cdna_start": 4119,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2974,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000936675.1",
"gene_hgnc_id": 3182,
"gene_symbol": "PHC1",
"hgvs_c": "c.2974C>T",
"hgvs_p": "p.Leu992Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606734.1",
"strand": true,
"transcript": "ENST00000936675.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1004,
"aa_ref": "L",
"aa_start": 992,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5442,
"cdna_start": 3393,
"cds_end": null,
"cds_length": 3015,
"cds_start": 2974,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000936676.1",
"gene_hgnc_id": 3182,
"gene_symbol": "PHC1",
"hgvs_c": "c.2974C>T",
"hgvs_p": "p.Leu992Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606735.1",
"strand": true,
"transcript": "ENST00000936676.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1002,
"aa_ref": "L",
"aa_start": 990,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5384,
"cdna_start": 3335,
"cds_end": null,
"cds_length": 3009,
"cds_start": 2968,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001413739.1",
"gene_hgnc_id": 3182,
"gene_symbol": "PHC1",
"hgvs_c": "c.2968C>T",
"hgvs_p": "p.Leu990Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400668.1",
"strand": true,
"transcript": "NM_001413739.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1002,
"aa_ref": "L",
"aa_start": 990,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5357,
"cdna_start": 3308,
"cds_end": null,
"cds_length": 3009,
"cds_start": 2968,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000936645.1",
"gene_hgnc_id": 3182,
"gene_symbol": "PHC1",
"hgvs_c": "c.2968C>T",
"hgvs_p": "p.Leu990Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606704.1",
"strand": true,
"transcript": "ENST00000936645.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1002,
"aa_ref": "L",
"aa_start": 990,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5356,
"cdna_start": 3307,
"cds_end": null,
"cds_length": 3009,
"cds_start": 2968,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000936646.1",
"gene_hgnc_id": 3182,
"gene_symbol": "PHC1",
"hgvs_c": "c.2968C>T",
"hgvs_p": "p.Leu990Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606705.1",
"strand": true,
"transcript": "ENST00000936646.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1002,
"aa_ref": "L",
"aa_start": 990,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5345,
"cdna_start": 3296,
"cds_end": null,
"cds_length": 3009,
"cds_start": 2968,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000936649.1",
"gene_hgnc_id": 3182,
"gene_symbol": "PHC1",
"hgvs_c": "c.2968C>T",
"hgvs_p": "p.Leu990Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606708.1",
"strand": true,
"transcript": "ENST00000936649.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1000,
"aa_ref": "L",
"aa_start": 988,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5263,
"cdna_start": 3214,
"cds_end": null,
"cds_length": 3003,
"cds_start": 2962,
"consequences": [
"missense_variant"
],
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}