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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: 2-97658548-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=97658548&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 97658548,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005735.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR1B",
"gene_hgnc_id": 168,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Ser179Cys",
"transcript": "NM_005735.4",
"protein_id": "NP_005726.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 376,
"cds_start": 536,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000289228.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005735.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR1B",
"gene_hgnc_id": 168,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Ser179Cys",
"transcript": "ENST00000289228.7",
"protein_id": "ENSP00000289228.5",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 376,
"cds_start": 536,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005735.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000289228.7"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR1B",
"gene_hgnc_id": 168,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Ser179Cys",
"transcript": "ENST00000855774.1",
"protein_id": "ENSP00000525833.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 387,
"cds_start": 536,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855774.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR1B",
"gene_hgnc_id": 168,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Ser179Cys",
"transcript": "ENST00000936776.1",
"protein_id": "ENSP00000606835.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 387,
"cds_start": 536,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936776.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR1B",
"gene_hgnc_id": 168,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Ser179Cys",
"transcript": "ENST00000855778.1",
"protein_id": "ENSP00000525837.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 382,
"cds_start": 536,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855778.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR1B",
"gene_hgnc_id": 168,
"hgvs_c": "c.533C>G",
"hgvs_p": "p.Ser178Cys",
"transcript": "ENST00000936775.1",
"protein_id": "ENSP00000606834.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 375,
"cds_start": 533,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936775.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR1B",
"gene_hgnc_id": 168,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Ser179Cys",
"transcript": "ENST00000855775.1",
"protein_id": "ENSP00000525834.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 369,
"cds_start": 536,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855775.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR1B",
"gene_hgnc_id": 168,
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Ser179Cys",
"transcript": "ENST00000855776.1",
"protein_id": "ENSP00000525835.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 364,
"cds_start": 536,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855776.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR1B",
"gene_hgnc_id": 168,
"hgvs_c": "c.428C>G",
"hgvs_p": "p.Ser143Cys",
"transcript": "ENST00000936777.1",
"protein_id": "ENSP00000606836.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 340,
"cds_start": 428,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936777.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR1B",
"gene_hgnc_id": 168,
"hgvs_c": "c.395C>G",
"hgvs_p": "p.Ser132Cys",
"transcript": "ENST00000855773.1",
"protein_id": "ENSP00000525832.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 329,
"cds_start": 395,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855773.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR1B",
"gene_hgnc_id": 168,
"hgvs_c": "c.404C>G",
"hgvs_p": "p.Ser135Cys",
"transcript": "XM_017003116.2",
"protein_id": "XP_016858605.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 332,
"cds_start": 404,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003116.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR1B",
"gene_hgnc_id": 168,
"hgvs_c": "c.314C>G",
"hgvs_p": "p.Ser105Cys",
"transcript": "XM_005263854.6",
"protein_id": "XP_005263911.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 302,
"cds_start": 314,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005263854.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTR1B",
"gene_hgnc_id": 168,
"hgvs_c": "c.398-69C>G",
"hgvs_p": null,
"transcript": "ENST00000855777.1",
"protein_id": "ENSP00000525836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": null,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855777.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACTR1B",
"gene_hgnc_id": 168,
"hgvs_c": "c.316-232C>G",
"hgvs_p": null,
"transcript": "ENST00000936778.1",
"protein_id": "ENSP00000606837.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": null,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936778.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR1B",
"gene_hgnc_id": 168,
"hgvs_c": "n.797C>G",
"hgvs_p": null,
"transcript": "ENST00000451664.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000451664.1"
}
],
"gene_symbol": "ACTR1B",
"gene_hgnc_id": 168,
"dbsnp": "rs200965492",
"frequency_reference_population": 0.000013010443,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000123129,
"gnomad_genomes_af": 0.0000197104,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8446977138519287,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.356,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1512,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.972,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_005735.4",
"gene_symbol": "ACTR1B",
"hgnc_id": 168,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.536C>G",
"hgvs_p": "p.Ser179Cys"
}
],
"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
}