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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: 3-38483245-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=38483245&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 38483245,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000352511.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR2B",
"gene_hgnc_id": 174,
"hgvs_c": "c.1452G>A",
"hgvs_p": "p.Ser484Ser",
"transcript": "NM_001106.4",
"protein_id": "NP_001097.2",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 512,
"cds_start": 1452,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 11782,
"mane_select": "ENST00000352511.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR2B",
"gene_hgnc_id": 174,
"hgvs_c": "c.1452G>A",
"hgvs_p": "p.Ser484Ser",
"transcript": "ENST00000352511.5",
"protein_id": "ENSP00000340361.3",
"transcript_support_level": 1,
"aa_start": 484,
"aa_end": null,
"aa_length": 512,
"cds_start": 1452,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1885,
"cdna_end": null,
"cdna_length": 11782,
"mane_select": "NM_001106.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR2B",
"gene_hgnc_id": 174,
"hgvs_c": "n.5241G>A",
"hgvs_p": null,
"transcript": "ENST00000461232.1",
"protein_id": null,
"transcript_support_level": 1,
"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": 5370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR2B",
"gene_hgnc_id": 174,
"hgvs_c": "c.1515G>A",
"hgvs_p": "p.Ser505Ser",
"transcript": "XM_005265583.4",
"protein_id": "XP_005265640.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 533,
"cds_start": 1515,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 11556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR2B",
"gene_hgnc_id": 174,
"hgvs_c": "c.1494G>A",
"hgvs_p": "p.Ser498Ser",
"transcript": "XM_017007514.2",
"protein_id": "XP_016863003.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 526,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1581,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 11535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR2B",
"gene_hgnc_id": 174,
"hgvs_c": "c.1470G>A",
"hgvs_p": "p.Ser490Ser",
"transcript": "XM_017007515.3",
"protein_id": "XP_016863004.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 518,
"cds_start": 1470,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 1698,
"cdna_end": null,
"cdna_length": 11595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR2B",
"gene_hgnc_id": 174,
"hgvs_c": "c.1449G>A",
"hgvs_p": "p.Ser483Ser",
"transcript": "XM_017007516.2",
"protein_id": "XP_016863005.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 511,
"cds_start": 1449,
"cds_end": null,
"cds_length": 1536,
"cdna_start": 4888,
"cdna_end": null,
"cdna_length": 14785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACVR2B",
"gene_hgnc_id": 174,
"hgvs_c": "n.1538G>A",
"hgvs_p": null,
"transcript": "ENST00000465020.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ACVR2B",
"gene_hgnc_id": 174,
"dbsnp": "rs56280856",
"frequency_reference_population": 0.000087979955,
"hom_count_reference_population": 0,
"allele_count_reference_population": 142,
"gnomad_exomes_af": 0.0000793497,
"gnomad_genomes_af": 0.000170918,
"gnomad_exomes_ac": 116,
"gnomad_genomes_ac": 26,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.2800000011920929,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.257,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.28,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000352511.5",
"gene_symbol": "ACVR2B",
"hgnc_id": 174,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1452G>A",
"hgvs_p": "p.Ser484Ser"
}
],
"clinvar_disease": " 4, autosomal, visceral,Heterotaxy",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "Heterotaxy, visceral, 4, autosomal",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}