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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: 3-50476136-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50476136&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 50476136,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000266039.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.270C>T",
"hgvs_p": "p.Gly90Gly",
"transcript": "NM_006030.4",
"protein_id": "NP_006021.2",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 1143,
"cds_start": 270,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 5696,
"mane_select": "ENST00000424201.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.270C>T",
"hgvs_p": "p.Gly90Gly",
"transcript": "ENST00000424201.7",
"protein_id": "ENSP00000390329.2",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 1143,
"cds_start": 270,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 5696,
"mane_select": "NM_006030.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.270C>T",
"hgvs_p": "p.Gly90Gly",
"transcript": "ENST00000423994.6",
"protein_id": "ENSP00000407393.2",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 1153,
"cds_start": 270,
"cds_end": null,
"cds_length": 3462,
"cdna_start": 270,
"cdna_end": null,
"cdna_length": 5329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.270C>T",
"hgvs_p": "p.Gly90Gly",
"transcript": "ENST00000479441.1",
"protein_id": "ENSP00000418081.1",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 1150,
"cds_start": 270,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 270,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.270C>T",
"hgvs_p": "p.Gly90Gly",
"transcript": "ENST00000266039.7",
"protein_id": "ENSP00000266039.3",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 1145,
"cds_start": 270,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 444,
"cdna_end": null,
"cdna_length": 5476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.63C>T",
"hgvs_p": "p.Gly21Gly",
"transcript": "ENST00000360963.7",
"protein_id": "ENSP00000354228.3",
"transcript_support_level": 1,
"aa_start": 21,
"aa_end": null,
"aa_length": 1076,
"cds_start": 63,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 5272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.270C>T",
"hgvs_p": "p.Gly90Gly",
"transcript": "NM_001174051.3",
"protein_id": "NP_001167522.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 1150,
"cds_start": 270,
"cds_end": null,
"cds_length": 3453,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 5717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.270C>T",
"hgvs_p": "p.Gly90Gly",
"transcript": "NM_001005505.3",
"protein_id": "NP_001005505.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 1145,
"cds_start": 270,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 5702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.270C>T",
"hgvs_p": "p.Gly90Gly",
"transcript": "NM_001410768.1",
"protein_id": "NP_001397697.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 1144,
"cds_start": 270,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 5699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.270C>T",
"hgvs_p": "p.Gly90Gly",
"transcript": "ENST00000429770.5",
"protein_id": "ENSP00000404631.1",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 1144,
"cds_start": 270,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 5304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.63C>T",
"hgvs_p": "p.Gly21Gly",
"transcript": "NM_001291101.1",
"protein_id": "NP_001278030.1",
"transcript_support_level": null,
"aa_start": 21,
"aa_end": null,
"aa_length": 1076,
"cds_start": 63,
"cds_end": null,
"cds_length": 3231,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 5461,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "c.270C>T",
"hgvs_p": "p.Gly90Gly",
"transcript": "XM_011534243.3",
"protein_id": "XP_011532545.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 1151,
"cds_start": 270,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 5720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"hgvs_c": "n.481C>T",
"hgvs_p": null,
"transcript": "ENST00000487413.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CACNA2D2",
"gene_hgnc_id": 1400,
"dbsnp": "rs754832829",
"frequency_reference_population": 0.00007614264,
"hom_count_reference_population": 0,
"allele_count_reference_population": 122,
"gnomad_exomes_af": 0.000075169,
"gnomad_genomes_af": 0.0000854195,
"gnomad_exomes_ac": 109,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.49000000953674316,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.985,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "ENST00000266039.7",
"gene_symbol": "CACNA2D2",
"hgnc_id": 1400,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.270C>T",
"hgvs_p": "p.Gly90Gly"
}
],
"clinvar_disease": "Developmental and epileptic encephalopathy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Developmental and epileptic encephalopathy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}