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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: 6-142218506-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=142218506&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 142218506,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016485.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"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": "VTA1",
"gene_hgnc_id": 20954,
"hgvs_c": "c.787C>A",
"hgvs_p": "p.Arg263Ser",
"transcript": "NM_016485.5",
"protein_id": "NP_057569.2",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 307,
"cds_start": 787,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367630.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016485.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"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": "VTA1",
"gene_hgnc_id": 20954,
"hgvs_c": "c.787C>A",
"hgvs_p": "p.Arg263Ser",
"transcript": "ENST00000367630.9",
"protein_id": "ENSP00000356602.3",
"transcript_support_level": 1,
"aa_start": 263,
"aa_end": null,
"aa_length": 307,
"cds_start": 787,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016485.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367630.9"
},
{
"aa_ref": "R",
"aa_alt": "S",
"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": "VTA1",
"gene_hgnc_id": 20954,
"hgvs_c": "c.781C>A",
"hgvs_p": "p.Arg261Ser",
"transcript": "ENST00000934453.1",
"protein_id": "ENSP00000604512.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 305,
"cds_start": 781,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934453.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTA1",
"gene_hgnc_id": 20954,
"hgvs_c": "c.706C>A",
"hgvs_p": "p.Arg236Ser",
"transcript": "NM_001286371.2",
"protein_id": "NP_001273300.1",
"transcript_support_level": null,
"aa_start": 236,
"aa_end": null,
"aa_length": 280,
"cds_start": 706,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286371.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTA1",
"gene_hgnc_id": 20954,
"hgvs_c": "c.706C>A",
"hgvs_p": "p.Arg236Ser",
"transcript": "ENST00000620996.4",
"protein_id": "ENSP00000481525.1",
"transcript_support_level": 3,
"aa_start": 236,
"aa_end": null,
"aa_length": 280,
"cds_start": 706,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620996.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTA1",
"gene_hgnc_id": 20954,
"hgvs_c": "c.613C>A",
"hgvs_p": "p.Arg205Ser",
"transcript": "ENST00000367621.1",
"protein_id": "ENSP00000356593.1",
"transcript_support_level": 5,
"aa_start": 205,
"aa_end": null,
"aa_length": 249,
"cds_start": 613,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367621.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTA1",
"gene_hgnc_id": 20954,
"hgvs_c": "c.532C>A",
"hgvs_p": "p.Arg178Ser",
"transcript": "NM_001286372.2",
"protein_id": "NP_001273301.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 222,
"cds_start": 532,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286372.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTA1",
"gene_hgnc_id": 20954,
"hgvs_c": "c.532C>A",
"hgvs_p": "p.Arg178Ser",
"transcript": "ENST00000452973.6",
"protein_id": "ENSP00000395767.2",
"transcript_support_level": 2,
"aa_start": 178,
"aa_end": null,
"aa_length": 222,
"cds_start": 532,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452973.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "VTA1",
"gene_hgnc_id": 20954,
"hgvs_c": "c.379C>A",
"hgvs_p": "p.Arg127Ser",
"transcript": "ENST00000890564.1",
"protein_id": "ENSP00000560623.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 171,
"cds_start": 379,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890564.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "VTA1",
"gene_hgnc_id": 20954,
"hgvs_c": "c.779-16C>A",
"hgvs_p": null,
"transcript": "ENST00000890565.1",
"protein_id": "ENSP00000560624.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": null,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890565.1"
}
],
"gene_symbol": "VTA1",
"gene_hgnc_id": 20954,
"dbsnp": "rs761965191",
"frequency_reference_population": 0.0000013695891,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136959,
"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": 0.2481347620487213,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.15,
"revel_prediction": "Benign",
"alphamissense_score": 0.3286,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.769,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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_016485.5",
"gene_symbol": "VTA1",
"hgnc_id": 20954,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.787C>A",
"hgvs_p": "p.Arg263Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}