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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: 7-81959320-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=81959320&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 81959320,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000356860.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3114C>G",
"hgvs_p": "p.Pro1038Pro",
"transcript": "NM_000722.4",
"protein_id": "NP_000713.2",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1091,
"cds_start": 3114,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3432,
"cdna_end": null,
"cdna_length": 7542,
"mane_select": "ENST00000356860.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3114C>G",
"hgvs_p": "p.Pro1038Pro",
"transcript": "ENST00000356860.8",
"protein_id": "ENSP00000349320.3",
"transcript_support_level": 1,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1091,
"cds_start": 3114,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3432,
"cdna_end": null,
"cdna_length": 7542,
"mane_select": "NM_000722.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3150C>G",
"hgvs_p": "p.Pro1050Pro",
"transcript": "NM_001366867.1",
"protein_id": "NP_001353796.1",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1103,
"cds_start": 3150,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 3647,
"cdna_end": null,
"cdna_length": 7757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3150C>G",
"hgvs_p": "p.Pro1050Pro",
"transcript": "ENST00000443883.2",
"protein_id": "ENSP00000409374.2",
"transcript_support_level": 5,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1103,
"cds_start": 3150,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 3647,
"cdna_end": null,
"cdna_length": 7757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2994C>G",
"hgvs_p": "p.Pro998Pro",
"transcript": "ENST00000705962.1",
"protein_id": "ENSP00000516190.1",
"transcript_support_level": null,
"aa_start": 998,
"aa_end": null,
"aa_length": 1051,
"cds_start": 2994,
"cds_end": null,
"cds_length": 3156,
"cdna_start": 2994,
"cdna_end": null,
"cdna_length": 5470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.2880C>G",
"hgvs_p": "p.Pro960Pro",
"transcript": "ENST00000705961.1",
"protein_id": "ENSP00000516189.1",
"transcript_support_level": null,
"aa_start": 960,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2880,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 2881,
"cdna_end": null,
"cdna_length": 6988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3171C>G",
"hgvs_p": "p.Pro1057Pro",
"transcript": "XM_006716118.4",
"protein_id": "XP_006716181.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1110,
"cds_start": 3171,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 3668,
"cdna_end": null,
"cdna_length": 7778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3171C>G",
"hgvs_p": "p.Pro1057Pro",
"transcript": "XM_011516570.4",
"protein_id": "XP_011514872.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1110,
"cds_start": 3171,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 3668,
"cdna_end": null,
"cdna_length": 4217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3156C>G",
"hgvs_p": "p.Pro1052Pro",
"transcript": "XM_011516571.4",
"protein_id": "XP_011514873.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1105,
"cds_start": 3156,
"cds_end": null,
"cds_length": 3318,
"cdna_start": 3653,
"cdna_end": null,
"cdna_length": 7763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3150C>G",
"hgvs_p": "p.Pro1050Pro",
"transcript": "XM_047420819.1",
"protein_id": "XP_047276775.1",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1103,
"cds_start": 3150,
"cds_end": null,
"cds_length": 3312,
"cdna_start": 3647,
"cdna_end": null,
"cdna_length": 4196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3135C>G",
"hgvs_p": "p.Pro1045Pro",
"transcript": "XM_011516572.4",
"protein_id": "XP_011514874.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1098,
"cds_start": 3135,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 3632,
"cdna_end": null,
"cdna_length": 7742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3099C>G",
"hgvs_p": "p.Pro1033Pro",
"transcript": "XM_005250572.4",
"protein_id": "XP_005250629.1",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1086,
"cds_start": 3099,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 3596,
"cdna_end": null,
"cdna_length": 7706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3099C>G",
"hgvs_p": "p.Pro1033Pro",
"transcript": "XM_047420820.1",
"protein_id": "XP_047276776.1",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1086,
"cds_start": 3099,
"cds_end": null,
"cds_length": 3261,
"cdna_start": 3596,
"cdna_end": null,
"cdna_length": 4145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3093C>G",
"hgvs_p": "p.Pro1031Pro",
"transcript": "XM_005250573.4",
"protein_id": "XP_005250630.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3093,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 3590,
"cdna_end": null,
"cdna_length": 7700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3093C>G",
"hgvs_p": "p.Pro1031Pro",
"transcript": "XM_047420821.1",
"protein_id": "XP_047276777.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1084,
"cds_start": 3093,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 3590,
"cdna_end": null,
"cdna_length": 4139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3078C>G",
"hgvs_p": "p.Pro1026Pro",
"transcript": "XM_005250574.4",
"protein_id": "XP_005250631.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1079,
"cds_start": 3078,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 3575,
"cdna_end": null,
"cdna_length": 7685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3078C>G",
"hgvs_p": "p.Pro1026Pro",
"transcript": "XM_047420822.1",
"protein_id": "XP_047276778.1",
"transcript_support_level": null,
"aa_start": 1026,
"aa_end": null,
"aa_length": 1079,
"cds_start": 3078,
"cds_end": null,
"cds_length": 3240,
"cdna_start": 3575,
"cdna_end": null,
"cdna_length": 4124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.3054C>G",
"hgvs_p": "p.Pro1018Pro",
"transcript": "XM_006716120.4",
"protein_id": "XP_006716183.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1071,
"cds_start": 3054,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 3214,
"cdna_end": null,
"cdna_length": 7324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"hgvs_c": "c.1581C>G",
"hgvs_p": "p.Pro527Pro",
"transcript": "XM_006716121.3",
"protein_id": "XP_006716184.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 580,
"cds_start": 1581,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 2476,
"cdna_end": null,
"cdna_length": 6586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CACNA2D1",
"gene_hgnc_id": 1399,
"dbsnp": "rs1229502",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.215,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "ENST00000356860.8",
"gene_symbol": "CACNA2D1",
"hgnc_id": 1399,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.3114C>G",
"hgvs_p": "p.Pro1038Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}