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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: 7-81950516-TAAAAA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=81950516&ref=TAAAAA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CACNA2D1",
"hgnc_id": 1399,
"hgvs_c": "c.3196-13_3196-9delTTTTT",
"hgvs_p": null,
"inheritance_mode": "AR,Unknown,AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001366867.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1091,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7542,
"cdna_start": null,
"cds_end": null,
"cds_length": 3276,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000722.4",
"gene_hgnc_id": 1399,
"gene_symbol": "CACNA2D1",
"hgvs_c": "c.3160-13_3160-9delTTTTT",
"hgvs_p": null,
"intron_rank": 38,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356860.8",
"protein_coding": true,
"protein_id": "NP_000713.2",
"strand": false,
"transcript": "NM_000722.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1091,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7542,
"cdna_start": null,
"cds_end": null,
"cds_length": 3276,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356860.8",
"gene_hgnc_id": 1399,
"gene_symbol": "CACNA2D1",
"hgvs_c": "c.3160-13_3160-9delTTTTT",
"hgvs_p": null,
"intron_rank": 38,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000722.4",
"protein_coding": true,
"protein_id": "ENSP00000349320.3",
"strand": false,
"transcript": "ENST00000356860.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1103,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7757,
"cdna_start": null,
"cds_end": null,
"cds_length": 3312,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001366867.1",
"gene_hgnc_id": 1399,
"gene_symbol": "CACNA2D1",
"hgvs_c": "c.3196-13_3196-9delTTTTT",
"hgvs_p": null,
"intron_rank": 38,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353796.1",
"strand": false,
"transcript": "NM_001366867.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1103,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7757,
"cdna_start": null,
"cds_end": null,
"cds_length": 3312,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000443883.2",
"gene_hgnc_id": 1399,
"gene_symbol": "CACNA2D1",
"hgvs_c": "c.3196-13_3196-9delTTTTT",
"hgvs_p": null,
"intron_rank": 38,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409374.2",
"strand": false,
"transcript": "ENST00000443883.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1098,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7596,
"cdna_start": null,
"cds_end": null,
"cds_length": 3297,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957014.1",
"gene_hgnc_id": 1399,
"gene_symbol": "CACNA2D1",
"hgvs_c": "c.3181-13_3181-9delTTTTT",
"hgvs_p": null,
"intron_rank": 38,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627073.1",
"strand": false,
"transcript": "ENST00000957014.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1084,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7714,
"cdna_start": null,
"cds_end": null,
"cds_length": 3255,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000855771.1",
"gene_hgnc_id": 1399,
"gene_symbol": "CACNA2D1",
"hgvs_c": "c.3139-13_3139-9delTTTTT",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525830.1",
"strand": false,
"transcript": "ENST00000855771.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1066,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7307,
"cdna_start": null,
"cds_end": null,
"cds_length": 3201,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957016.1",
"gene_hgnc_id": 1399,
"gene_symbol": "CACNA2D1",
"hgvs_c": "c.3085-13_3085-9delTTTTT",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627075.1",
"strand": false,
"transcript": "ENST00000957016.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1051,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5470,
"cdna_start": null,
"cds_end": null,
"cds_length": 3156,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000705962.1",
"gene_hgnc_id": 1399,
"gene_symbol": "CACNA2D1",
"hgvs_c": "c.3040-13_3040-9delTTTTT",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516190.1",
"strand": false,
"transcript": "ENST00000705962.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1033,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5020,
"cdna_start": null,
"cds_end": null,
"cds_length": 3102,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957017.1",
"gene_hgnc_id": 1399,
"gene_symbol": "CACNA2D1",
"hgvs_c": "c.2986-13_2986-9delTTTTT",
"hgvs_p": null,
"intron_rank": 36,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627076.1",
"strand": false,
"transcript": "ENST00000957017.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1013,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6988,
"cdna_start": null,
"cds_end": null,
"cds_length": 3042,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000705961.1",
"gene_hgnc_id": 1399,
"gene_symbol": "CACNA2D1",
"hgvs_c": "c.2926-13_2926-9delTTTTT",
"hgvs_p": null,
"intron_rank": 36,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516189.1",
"strand": false,
"transcript": "ENST00000705961.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 991,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7240,
"cdna_start": null,
"cds_end": null,
"cds_length": 2976,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957015.1",
"gene_hgnc_id": 1399,
"gene_symbol": "CACNA2D1",
"hgvs_c": "c.2860-13_2860-9delTTTTT",
"hgvs_p": null,
"intron_rank": 35,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627074.1",
"strand": false,
"transcript": "ENST00000957015.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1110,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7778,
"cdna_start": null,
"cds_end": null,
"cds_length": 3333,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006716118.4",
"gene_hgnc_id": 1399,
"gene_symbol": "CACNA2D1",
"hgvs_c": "c.3217-13_3217-9delTTTTT",
"hgvs_p": null,
"intron_rank": 39,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716181.1",
"strand": false,
"transcript": "XM_006716118.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1105,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7763,
"cdna_start": null,
"cds_end": null,
"cds_length": 3318,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011516571.4",
"gene_hgnc_id": 1399,
"gene_symbol": "CACNA2D1",
"hgvs_c": "c.3202-13_3202-9delTTTTT",
"hgvs_p": null,
"intron_rank": 39,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514873.1",
"strand": false,
"transcript": "XM_011516571.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1098,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7742,
"cdna_start": null,
"cds_end": null,
"cds_length": 3297,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011516572.4",
"gene_hgnc_id": 1399,
"gene_symbol": "CACNA2D1",
"hgvs_c": "c.3181-13_3181-9delTTTTT",
"hgvs_p": null,
"intron_rank": 38,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514874.1",
"strand": false,
"transcript": "XM_011516572.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1086,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7706,
"cdna_start": null,
"cds_end": null,
"cds_length": 3261,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005250572.4",
"gene_hgnc_id": 1399,
"gene_symbol": "CACNA2D1",
"hgvs_c": "c.3145-13_3145-9delTTTTT",
"hgvs_p": null,
"intron_rank": 38,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005250629.1",
"strand": false,
"transcript": "XM_005250572.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1084,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7700,
"cdna_start": null,
"cds_end": null,
"cds_length": 3255,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005250573.4",
"gene_hgnc_id": 1399,
"gene_symbol": "CACNA2D1",
"hgvs_c": "c.3139-13_3139-9delTTTTT",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005250630.1",
"strand": false,
"transcript": "XM_005250573.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1079,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7685,
"cdna_start": null,
"cds_end": null,
"cds_length": 3240,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005250574.4",
"gene_hgnc_id": 1399,
"gene_symbol": "CACNA2D1",
"hgvs_c": "c.3124-13_3124-9delTTTTT",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005250631.1",
"strand": false,
"transcript": "XM_005250574.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1071,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7324,
"cdna_start": null,
"cds_end": null,
"cds_length": 3216,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006716120.4",
"gene_hgnc_id": 1399,
"gene_symbol": "CACNA2D1",
"hgvs_c": "c.3100-13_3100-9delTTTTT",
"hgvs_p": null,
"intron_rank": 39,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716183.1",
"strand": false,
"transcript": "XM_006716120.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 580,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6586,
"cdna_start": null,
"cds_end": null,
"cds_length": 1743,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006716121.3",
"gene_hgnc_id": 1399,
"gene_symbol": "CACNA2D1",
"hgvs_c": "c.1627-13_1627-9delTTTTT",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716184.1",
"strand": false,
"transcript": "XM_006716121.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs367960608",
"effect": "intron_variant",
"frequency_reference_population": 7.652983e-7,
"gene_hgnc_id": 1399,
"gene_symbol": "CACNA2D1",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 7.65298e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.162,
"pos": 81950516,
"ref": "TAAAAA",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001366867.1"
}
]
}