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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: 19-6495832-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=6495832&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 6495832,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000264071.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB4A",
"gene_hgnc_id": 20774,
"hgvs_c": "c.667G>A",
"hgvs_p": "p.Gly223Arg",
"transcript": "NM_006087.4",
"protein_id": "NP_006078.2",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 444,
"cds_start": 667,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 2277,
"mane_select": "ENST00000264071.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB4A",
"gene_hgnc_id": 20774,
"hgvs_c": "c.667G>A",
"hgvs_p": "p.Gly223Arg",
"transcript": "ENST00000264071.7",
"protein_id": "ENSP00000264071.1",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 444,
"cds_start": 667,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 2277,
"mane_select": "NM_006087.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB4A",
"gene_hgnc_id": 20774,
"hgvs_c": "c.820G>A",
"hgvs_p": "p.Gly274Arg",
"transcript": "NM_001289123.2",
"protein_id": "NP_001276052.1",
"transcript_support_level": null,
"aa_start": 274,
"aa_end": null,
"aa_length": 495,
"cds_start": 820,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 957,
"cdna_end": null,
"cdna_length": 2470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB4A",
"gene_hgnc_id": 20774,
"hgvs_c": "c.820G>A",
"hgvs_p": "p.Gly274Arg",
"transcript": "ENST00000598635.2",
"protein_id": "ENSP00000470627.2",
"transcript_support_level": 4,
"aa_start": 274,
"aa_end": null,
"aa_length": 495,
"cds_start": 820,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB4A",
"gene_hgnc_id": 20774,
"hgvs_c": "c.802G>A",
"hgvs_p": "p.Gly268Arg",
"transcript": "NM_001289127.2",
"protein_id": "NP_001276056.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 489,
"cds_start": 802,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 939,
"cdna_end": null,
"cdna_length": 2452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB4A",
"gene_hgnc_id": 20774,
"hgvs_c": "c.802G>A",
"hgvs_p": "p.Gly268Arg",
"transcript": "ENST00000597686.6",
"protein_id": "ENSP00000472375.2",
"transcript_support_level": 4,
"aa_start": 268,
"aa_end": null,
"aa_length": 489,
"cds_start": 802,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 1603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB4A",
"gene_hgnc_id": 20774,
"hgvs_c": "c.667G>A",
"hgvs_p": "p.Gly223Arg",
"transcript": "NM_001289129.2",
"protein_id": "NP_001276058.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 444,
"cds_start": 667,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB4A",
"gene_hgnc_id": 20774,
"hgvs_c": "c.457G>A",
"hgvs_p": "p.Gly153Arg",
"transcript": "ENST00000594075.6",
"protein_id": "ENSP00000469936.2",
"transcript_support_level": 3,
"aa_start": 153,
"aa_end": null,
"aa_length": 374,
"cds_start": 457,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 1222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB4A",
"gene_hgnc_id": 20774,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Gly151Arg",
"transcript": "NM_001289130.2",
"protein_id": "NP_001276059.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 372,
"cds_start": 451,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 721,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB4A",
"gene_hgnc_id": 20774,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Gly151Arg",
"transcript": "NM_001289131.2",
"protein_id": "NP_001276060.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 372,
"cds_start": 451,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 688,
"cdna_end": null,
"cdna_length": 2201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB4A",
"gene_hgnc_id": 20774,
"hgvs_c": "c.451G>A",
"hgvs_p": "p.Gly151Arg",
"transcript": "ENST00000596291.2",
"protein_id": "ENSP00000471880.2",
"transcript_support_level": 2,
"aa_start": 151,
"aa_end": null,
"aa_length": 372,
"cds_start": 451,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 774,
"cdna_end": null,
"cdna_length": 1442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB4A",
"gene_hgnc_id": 20774,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Gly119Arg",
"transcript": "ENST00000594276.6",
"protein_id": "ENSP00000472481.2",
"transcript_support_level": 4,
"aa_start": 119,
"aa_end": null,
"aa_length": 340,
"cds_start": 355,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 1120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB4A",
"gene_hgnc_id": 20774,
"hgvs_c": "c.*206G>A",
"hgvs_p": null,
"transcript": "ENST00000714086.1",
"protein_id": "ENSP00000519377.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 161,
"cds_start": -4,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2140,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB4A",
"gene_hgnc_id": 20774,
"hgvs_c": "c.*309G>A",
"hgvs_p": null,
"transcript": "ENST00000598006.1",
"protein_id": "ENSP00000472795.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 104,
"cds_start": -4,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 565,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB4A",
"gene_hgnc_id": 20774,
"hgvs_c": "c.*309G>A",
"hgvs_p": null,
"transcript": "ENST00000601152.5",
"protein_id": "ENSP00000471320.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 93,
"cds_start": -4,
"cds_end": null,
"cds_length": 282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 590,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBB4A",
"gene_hgnc_id": 20774,
"hgvs_c": "n.*696G>A",
"hgvs_p": null,
"transcript": "ENST00000595324.5",
"protein_id": "ENSP00000469560.1",
"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": 1050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TUBB4A",
"gene_hgnc_id": 20774,
"dbsnp": "rs797046078",
"frequency_reference_population": 0.000004336868,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000410427,
"gnomad_genomes_af": 0.00000657134,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9218459129333496,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.734,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.988,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.669,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BP6_Moderate,BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BP6_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000264071.7",
"gene_symbol": "TUBB4A",
"hgnc_id": 20774,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.667G>A",
"hgvs_p": "p.Gly223Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}