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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: 19-6495578-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=6495578&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 6495578,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000264071.7",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.921C>T",
"hgvs_p": "p.His307His",
"transcript": "NM_006087.4",
"protein_id": "NP_006078.2",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 444,
"cds_start": 921,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 2277,
"mane_select": "ENST00000264071.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.921C>T",
"hgvs_p": "p.His307His",
"transcript": "ENST00000264071.7",
"protein_id": "ENSP00000264071.1",
"transcript_support_level": 1,
"aa_start": 307,
"aa_end": null,
"aa_length": 444,
"cds_start": 921,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 2277,
"mane_select": "NM_006087.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1074C>T",
"hgvs_p": "p.His358His",
"transcript": "NM_001289123.2",
"protein_id": "NP_001276052.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 495,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 2470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1074C>T",
"hgvs_p": "p.His358His",
"transcript": "ENST00000598635.2",
"protein_id": "ENSP00000470627.2",
"transcript_support_level": 4,
"aa_start": 358,
"aa_end": null,
"aa_length": 495,
"cds_start": 1074,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1056C>T",
"hgvs_p": "p.His352His",
"transcript": "NM_001289127.2",
"protein_id": "NP_001276056.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 489,
"cds_start": 1056,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1193,
"cdna_end": null,
"cdna_length": 2452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1056C>T",
"hgvs_p": "p.His352His",
"transcript": "ENST00000597686.6",
"protein_id": "ENSP00000472375.2",
"transcript_support_level": 4,
"aa_start": 352,
"aa_end": null,
"aa_length": 489,
"cds_start": 1056,
"cds_end": null,
"cds_length": 1470,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 1603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.921C>T",
"hgvs_p": "p.His307His",
"transcript": "NM_001289129.2",
"protein_id": "NP_001276058.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 444,
"cds_start": 921,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 1141,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.711C>T",
"hgvs_p": "p.His237His",
"transcript": "ENST00000594075.6",
"protein_id": "ENSP00000469936.2",
"transcript_support_level": 3,
"aa_start": 237,
"aa_end": null,
"aa_length": 374,
"cds_start": 711,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 1222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.705C>T",
"hgvs_p": "p.His235His",
"transcript": "NM_001289130.2",
"protein_id": "NP_001276059.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 372,
"cds_start": 705,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.705C>T",
"hgvs_p": "p.His235His",
"transcript": "NM_001289131.2",
"protein_id": "NP_001276060.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 372,
"cds_start": 705,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 2201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.705C>T",
"hgvs_p": "p.His235His",
"transcript": "ENST00000596291.2",
"protein_id": "ENSP00000471880.2",
"transcript_support_level": 2,
"aa_start": 235,
"aa_end": null,
"aa_length": 372,
"cds_start": 705,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 1442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.609C>T",
"hgvs_p": "p.His203His",
"transcript": "ENST00000594276.6",
"protein_id": "ENSP00000472481.2",
"transcript_support_level": 4,
"aa_start": 203,
"aa_end": null,
"aa_length": 340,
"cds_start": 609,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 706,
"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.*460C>T",
"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
}
],
"gene_symbol": "TUBB4A",
"gene_hgnc_id": 20774,
"dbsnp": "rs118102196",
"frequency_reference_population": 0.020475257,
"hom_count_reference_population": 429,
"allele_count_reference_population": 33046,
"gnomad_exomes_af": 0.0210549,
"gnomad_genomes_af": 0.0149142,
"gnomad_exomes_ac": 30774,
"gnomad_genomes_ac": 2272,
"gnomad_exomes_homalt": 405,
"gnomad_genomes_homalt": 24,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5699999928474426,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.938,
"phylop100way_prediction": "Benign",
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000264071.7",
"gene_symbol": "TUBB4A",
"hgnc_id": 20774,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.921C>T",
"hgvs_p": "p.His307His"
}
],
"clinvar_disease": "Hypomyelinating leukodystrophy 6,TUBB4A-related disorder,Torsion dystonia 4,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"phenotype_combined": "Hypomyelinating leukodystrophy 6|not specified|Torsion dystonia 4|TUBB4A-related disorder|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}