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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: 1-2030125-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=2030125&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 2030125,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000378585.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "c.1202C>G",
"hgvs_p": "p.Thr401Arg",
"transcript": "NM_000815.5",
"protein_id": "NP_000806.2",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 452,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": "ENST00000378585.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "c.1202C>G",
"hgvs_p": "p.Thr401Arg",
"transcript": "ENST00000378585.7",
"protein_id": "ENSP00000367848.4",
"transcript_support_level": 1,
"aa_start": 401,
"aa_end": null,
"aa_length": 452,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1281,
"cdna_end": null,
"cdna_length": 1914,
"mane_select": "NM_000815.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "c.1422C>G",
"hgvs_p": "p.Asp474Glu",
"transcript": "ENST00000638771.1",
"protein_id": "ENSP00000492435.1",
"transcript_support_level": 3,
"aa_start": 474,
"aa_end": null,
"aa_length": 500,
"cds_start": 1422,
"cds_end": null,
"cds_length": 1503,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "c.1286C>G",
"hgvs_p": "p.Thr429Arg",
"transcript": "ENST00000640067.1",
"protein_id": "ENSP00000491844.1",
"transcript_support_level": 5,
"aa_start": 429,
"aa_end": null,
"aa_length": 480,
"cds_start": 1286,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "c.1133C>G",
"hgvs_p": "p.Thr378Arg",
"transcript": "ENST00000640949.1",
"protein_id": "ENSP00000492500.1",
"transcript_support_level": 5,
"aa_start": 378,
"aa_end": null,
"aa_length": 429,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "c.986C>G",
"hgvs_p": "p.Thr329Arg",
"transcript": "ENST00000640030.1",
"protein_id": "ENSP00000491411.1",
"transcript_support_level": 5,
"aa_start": 329,
"aa_end": null,
"aa_length": 380,
"cds_start": 986,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "c.1907C>G",
"hgvs_p": "p.Thr636Arg",
"transcript": "XM_017000936.2",
"protein_id": "XP_016856425.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 687,
"cds_start": 1907,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 6216,
"cdna_end": null,
"cdna_length": 6849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "c.1241C>G",
"hgvs_p": "p.Thr414Arg",
"transcript": "XM_011541194.4",
"protein_id": "XP_011539496.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 465,
"cds_start": 1241,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 5080,
"cdna_end": null,
"cdna_length": 5713,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "n.1761C>G",
"hgvs_p": null,
"transcript": "ENST00000638604.1",
"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": 2377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "n.1781C>G",
"hgvs_p": null,
"transcript": "ENST00000639070.1",
"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": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "n.1806C>G",
"hgvs_p": null,
"transcript": "ENST00000639777.1",
"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": 2393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "n.1551C>G",
"hgvs_p": null,
"transcript": "ENST00000640317.1",
"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": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "n.703C>G",
"hgvs_p": null,
"transcript": "ENST00000640688.1",
"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": 1295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "n.1869C>G",
"hgvs_p": null,
"transcript": "ENST00000640892.1",
"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": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "c.*46C>G",
"hgvs_p": null,
"transcript": "ENST00000638411.1",
"protein_id": "ENSP00000491632.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 394,
"cds_start": -4,
"cds_end": null,
"cds_length": 1187,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "c.*133C>G",
"hgvs_p": null,
"transcript": "ENST00000638804.1",
"protein_id": "ENSP00000491871.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 168,
"cds_start": -4,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "n.*1188C>G",
"hgvs_p": null,
"transcript": "ENST00000639045.1",
"protein_id": "ENSP00000491997.1",
"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": 1247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"hgvs_c": "n.*39C>G",
"hgvs_p": null,
"transcript": "ENST00000640423.1",
"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": 1172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GABRD",
"gene_hgnc_id": 4084,
"dbsnp": "rs116604393",
"frequency_reference_population": 0.000001400368,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000140037,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05727297067642212,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.25999999046325684,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.272,
"revel_prediction": "Benign",
"alphamissense_score": 0.0612,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.146,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.26,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000378585.7",
"gene_symbol": "GABRD",
"hgnc_id": 4084,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1202C>G",
"hgvs_p": "p.Thr401Arg"
}
],
"clinvar_disease": "Idiopathic generalized epilepsy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Idiopathic generalized epilepsy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}