← Back to variant description
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: 2-85754343-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=85754343&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATOH8",
"hgnc_id": 24126,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Pro52Ser",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_032827.7",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 115,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0807,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09683418273925781,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 321,
"aa_ref": "P",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5658,
"cdna_start": 353,
"cds_end": null,
"cds_length": 966,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_032827.7",
"gene_hgnc_id": 24126,
"gene_symbol": "ATOH8",
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Pro52Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000306279.4",
"protein_coding": true,
"protein_id": "NP_116216.2",
"strand": true,
"transcript": "NM_032827.7",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 321,
"aa_ref": "P",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5658,
"cdna_start": 353,
"cds_end": null,
"cds_length": 966,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000306279.4",
"gene_hgnc_id": 24126,
"gene_symbol": "ATOH8",
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Pro52Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032827.7",
"protein_coding": true,
"protein_id": "ENSP00000304676.3",
"strand": true,
"transcript": "ENST00000306279.4",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 321,
"aa_ref": "P",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5755,
"cdna_start": 450,
"cds_end": null,
"cds_length": 966,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000716557.1",
"gene_hgnc_id": 24126,
"gene_symbol": "ATOH8",
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Pro52Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520563.1",
"strand": true,
"transcript": "ENST00000716557.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 320,
"aa_ref": "P",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2709,
"cdna_start": 724,
"cds_end": null,
"cds_length": 963,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000881377.1",
"gene_hgnc_id": 24126,
"gene_symbol": "ATOH8",
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Pro52Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551436.1",
"strand": true,
"transcript": "ENST00000881377.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 257,
"aa_ref": "P",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2306,
"cdna_start": 510,
"cds_end": null,
"cds_length": 774,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000881378.1",
"gene_hgnc_id": 24126,
"gene_symbol": "ATOH8",
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Pro52Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551437.1",
"strand": true,
"transcript": "ENST00000881378.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 328,
"aa_ref": "P",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5716,
"cdna_start": 353,
"cds_end": null,
"cds_length": 987,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011533139.2",
"gene_hgnc_id": 24126,
"gene_symbol": "ATOH8",
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Pro52Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531441.1",
"strand": true,
"transcript": "XM_011533139.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 327,
"aa_ref": "P",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1501,
"cdna_start": 353,
"cds_end": null,
"cds_length": 984,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_006712122.4",
"gene_hgnc_id": 24126,
"gene_symbol": "ATOH8",
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Pro52Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006712185.1",
"strand": true,
"transcript": "XM_006712122.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 321,
"aa_ref": "P",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3509,
"cdna_start": 353,
"cds_end": null,
"cds_length": 966,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047446094.1",
"gene_hgnc_id": 24126,
"gene_symbol": "ATOH8",
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Pro52Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047302050.1",
"strand": true,
"transcript": "XM_047446094.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5860,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XR_939731.2",
"gene_hgnc_id": 24126,
"gene_symbol": "ATOH8",
"hgvs_c": "n.353C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_939731.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 5918,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XR_939732.2",
"gene_hgnc_id": 24126,
"gene_symbol": "ATOH8",
"hgvs_c": "n.353C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_939732.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1402,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XR_939733.3",
"gene_hgnc_id": 24126,
"gene_symbol": "ATOH8",
"hgvs_c": "n.353C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_939733.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1893,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000469442.5",
"gene_hgnc_id": 24126,
"gene_symbol": "ATOH8",
"hgvs_c": "n.519+2481C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000469442.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs373503520",
"effect": "missense_variant",
"frequency_reference_population": 0.00007153147,
"gene_hgnc_id": 24126,
"gene_symbol": "ATOH8",
"gnomad_exomes_ac": 86,
"gnomad_exomes_af": 0.0000590846,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 29,
"gnomad_genomes_af": 0.000190609,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.418,
"pos": 85754343,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.086,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_032827.7"
}
]
}