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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: 3-112011840-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=112011840&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 112011840,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_013259.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN3",
"gene_hgnc_id": 29868,
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"transcript": "NM_001008272.2",
"protein_id": "NP_001008273.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 199,
"cds_start": 433,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000478951.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008272.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN3",
"gene_hgnc_id": 29868,
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"transcript": "ENST00000478951.6",
"protein_id": "ENSP00000419105.1",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 199,
"cds_start": 433,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001008272.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000478951.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN3",
"gene_hgnc_id": 29868,
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"transcript": "ENST00000273368.8",
"protein_id": "ENSP00000273368.4",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 199,
"cds_start": 433,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000273368.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN3",
"gene_hgnc_id": 29868,
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"transcript": "ENST00000455401.6",
"protein_id": "ENSP00000391160.2",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 199,
"cds_start": 433,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455401.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN3",
"gene_hgnc_id": 29868,
"hgvs_c": "c.451C>T",
"hgvs_p": "p.Arg151Trp",
"transcript": "ENST00000900321.1",
"protein_id": "ENSP00000570380.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 205,
"cds_start": 451,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900321.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN3",
"gene_hgnc_id": 29868,
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"transcript": "NM_001008273.2",
"protein_id": "NP_001008274.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 199,
"cds_start": 433,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008273.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN3",
"gene_hgnc_id": 29868,
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"transcript": "NM_013259.3",
"protein_id": "NP_037391.2",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 199,
"cds_start": 433,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013259.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN3",
"gene_hgnc_id": 29868,
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"transcript": "ENST00000393917.6",
"protein_id": "ENSP00000377494.2",
"transcript_support_level": 5,
"aa_start": 145,
"aa_end": null,
"aa_length": 199,
"cds_start": 433,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393917.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN3",
"gene_hgnc_id": 29868,
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"transcript": "ENST00000900319.1",
"protein_id": "ENSP00000570378.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 199,
"cds_start": 433,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900319.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN3",
"gene_hgnc_id": 29868,
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"transcript": "ENST00000900320.1",
"protein_id": "ENSP00000570379.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 199,
"cds_start": 433,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900320.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN3",
"gene_hgnc_id": 29868,
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"transcript": "ENST00000941320.1",
"protein_id": "ENSP00000611379.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 199,
"cds_start": 433,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941320.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN3",
"gene_hgnc_id": 29868,
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"transcript": "ENST00000941321.1",
"protein_id": "ENSP00000611380.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 199,
"cds_start": 433,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941321.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN3",
"gene_hgnc_id": 29868,
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp",
"transcript": "ENST00000941322.1",
"protein_id": "ENSP00000611381.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 199,
"cds_start": 433,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941322.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TAGLN3",
"gene_hgnc_id": 29868,
"hgvs_c": "c.181C>T",
"hgvs_p": "p.Arg61Trp",
"transcript": "ENST00000486460.1",
"protein_id": "ENSP00000417904.1",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 115,
"cds_start": 181,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486460.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TAGLN3",
"gene_hgnc_id": 29868,
"hgvs_c": "c.181-1570C>T",
"hgvs_p": null,
"transcript": "ENST00000494932.1",
"protein_id": "ENSP00000420675.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": null,
"cds_end": null,
"cds_length": 491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000494932.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TAGLN3",
"gene_hgnc_id": 29868,
"hgvs_c": "c.176-1570C>T",
"hgvs_p": null,
"transcript": "ENST00000469385.1",
"protein_id": "ENSP00000420346.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 78,
"cds_start": null,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000469385.1"
}
],
"gene_symbol": "TAGLN3",
"gene_hgnc_id": 29868,
"dbsnp": "rs200832556",
"frequency_reference_population": 0.0000049572436,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000342081,
"gnomad_genomes_af": 0.0000197163,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.23764747381210327,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.34,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1616,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.152,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013259.3",
"gene_symbol": "TAGLN3",
"hgnc_id": 29868,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.433C>T",
"hgvs_p": "p.Arg145Trp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}