← Back to variant description
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: 8-23007710-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=23007710&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 23007710,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000251822.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "c.1465C>G",
"hgvs_p": "p.Arg489Gly",
"transcript": "NM_015178.3",
"protein_id": "NP_055993.2",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 727,
"cds_start": 1465,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2033,
"cdna_end": null,
"cdna_length": 5482,
"mane_select": "ENST00000251822.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "c.1465C>G",
"hgvs_p": "p.Arg489Gly",
"transcript": "ENST00000251822.7",
"protein_id": "ENSP00000251822.7",
"transcript_support_level": 1,
"aa_start": 489,
"aa_end": null,
"aa_length": 727,
"cds_start": 1465,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 2033,
"cdna_end": null,
"cdna_length": 5482,
"mane_select": "NM_015178.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "c.1531C>G",
"hgvs_p": "p.Arg511Gly",
"transcript": "ENST00000519685.5",
"protein_id": "ENSP00000427926.1",
"transcript_support_level": 1,
"aa_start": 511,
"aa_end": null,
"aa_length": 749,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1814,
"cdna_end": null,
"cdna_length": 3505,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000245025",
"gene_hgnc_id": 58239,
"hgvs_c": "n.616G>C",
"hgvs_p": null,
"transcript": "ENST00000502083.2",
"protein_id": null,
"transcript_support_level": 1,
"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": 1945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "c.1531C>G",
"hgvs_p": "p.Arg511Gly",
"transcript": "NM_001160036.2",
"protein_id": "NP_001153508.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 749,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1980,
"cdna_end": null,
"cdna_length": 5429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "c.1492C>G",
"hgvs_p": "p.Arg498Gly",
"transcript": "ENST00000692529.1",
"protein_id": "ENSP00000509630.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 736,
"cds_start": 1492,
"cds_end": null,
"cds_length": 2211,
"cdna_start": 1792,
"cdna_end": null,
"cdna_length": 5551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "c.1486C>G",
"hgvs_p": "p.Arg496Gly",
"transcript": "NM_001160037.2",
"protein_id": "NP_001153509.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 734,
"cds_start": 1486,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 4966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "c.1486C>G",
"hgvs_p": "p.Arg496Gly",
"transcript": "ENST00000522948.5",
"protein_id": "ENSP00000429141.1",
"transcript_support_level": 5,
"aa_start": 496,
"aa_end": null,
"aa_length": 734,
"cds_start": 1486,
"cds_end": null,
"cds_length": 2205,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 4959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "c.1465C>G",
"hgvs_p": "p.Arg489Gly",
"transcript": "NM_001374791.1",
"protein_id": "NP_001361720.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 727,
"cds_start": 1465,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 5242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "c.1531C>G",
"hgvs_p": "p.Arg511Gly",
"transcript": "XM_047421607.1",
"protein_id": "XP_047277563.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 749,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 5466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "c.1531C>G",
"hgvs_p": "p.Arg511Gly",
"transcript": "XM_047421608.1",
"protein_id": "XP_047277564.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 749,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1983,
"cdna_end": null,
"cdna_length": 5432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "c.1531C>G",
"hgvs_p": "p.Arg511Gly",
"transcript": "XM_047421609.1",
"protein_id": "XP_047277565.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 749,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 5279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "c.1531C>G",
"hgvs_p": "p.Arg511Gly",
"transcript": "XM_047421610.1",
"protein_id": "XP_047277566.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 749,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 2020,
"cdna_end": null,
"cdna_length": 5469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "c.1531C>G",
"hgvs_p": "p.Arg511Gly",
"transcript": "XM_047421611.1",
"protein_id": "XP_047277567.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 749,
"cds_start": 1531,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1841,
"cdna_end": null,
"cdna_length": 5290,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000245025",
"gene_hgnc_id": 58239,
"hgvs_c": "n.542G>C",
"hgvs_p": null,
"transcript": "ENST00000665917.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"hgvs_c": "n.-129C>G",
"hgvs_p": null,
"transcript": "ENST00000519210.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000245025",
"gene_hgnc_id": 58239,
"hgvs_c": "n.-179G>C",
"hgvs_p": null,
"transcript": "ENST00000523884.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RHOBTB2",
"gene_hgnc_id": 18756,
"dbsnp": "rs1554504681",
"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": 0.8225808143615723,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.538,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9979,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.003,
"phylop100way_prediction": "Uncertain_significance",
"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": 15,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 15,
"benign_score": 0,
"pathogenic_score": 15,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000251822.7",
"gene_symbol": "RHOBTB2",
"hgnc_id": 18756,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1465C>G",
"hgvs_p": "p.Arg489Gly"
},
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PM2",
"PP3",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000502083.2",
"gene_symbol": "ENSG00000245025",
"hgnc_id": 58239,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.616G>C",
"hgvs_p": null
}
],
"clinvar_disease": " 64,Developmental and epileptic encephalopathy,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:1",
"phenotype_combined": "not provided|Developmental and epileptic encephalopathy, 64",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}