← 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: 12-8855578-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=8855578&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 8855578,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000299698.12",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.2834A>T",
"hgvs_p": "p.Tyr945Phe",
"transcript": "NM_144670.6",
"protein_id": "NP_653271.3",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1454,
"cds_start": 2834,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 2865,
"cdna_end": null,
"cdna_length": 5127,
"mane_select": "ENST00000299698.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.2834A>T",
"hgvs_p": "p.Tyr945Phe",
"transcript": "ENST00000299698.12",
"protein_id": "ENSP00000299698.7",
"transcript_support_level": 1,
"aa_start": 945,
"aa_end": null,
"aa_length": 1454,
"cds_start": 2834,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 2865,
"cdna_end": null,
"cdna_length": 5127,
"mane_select": "NM_144670.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.1484A>T",
"hgvs_p": "p.Tyr495Phe",
"transcript": "ENST00000541459.5",
"protein_id": "ENSP00000443174.1",
"transcript_support_level": 2,
"aa_start": 495,
"aa_end": null,
"aa_length": 1004,
"cds_start": 1484,
"cds_end": null,
"cds_length": 3015,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 3370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.1361A>T",
"hgvs_p": "p.Tyr454Phe",
"transcript": "NM_001282424.3",
"protein_id": "NP_001269353.2",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 963,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 3791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.1361A>T",
"hgvs_p": "p.Tyr454Phe",
"transcript": "ENST00000539547.5",
"protein_id": "ENSP00000438292.1",
"transcript_support_level": 2,
"aa_start": 454,
"aa_end": null,
"aa_length": 963,
"cds_start": 1361,
"cds_end": null,
"cds_length": 2892,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 3460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.2873A>T",
"hgvs_p": "p.Tyr958Phe",
"transcript": "XM_011520566.3",
"protein_id": "XP_011518868.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 1467,
"cds_start": 2873,
"cds_end": null,
"cds_length": 4404,
"cdna_start": 2904,
"cdna_end": null,
"cdna_length": 5166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.2873A>T",
"hgvs_p": "p.Tyr958Phe",
"transcript": "XM_011520567.3",
"protein_id": "XP_011518869.1",
"transcript_support_level": null,
"aa_start": 958,
"aa_end": null,
"aa_length": 1467,
"cds_start": 2873,
"cds_end": null,
"cds_length": 4404,
"cdna_start": 2904,
"cdna_end": null,
"cdna_length": 4885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.2870A>T",
"hgvs_p": "p.Tyr957Phe",
"transcript": "XM_017018869.2",
"protein_id": "XP_016874358.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1466,
"cds_start": 2870,
"cds_end": null,
"cds_length": 4401,
"cdna_start": 2901,
"cdna_end": null,
"cdna_length": 4882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.2834A>T",
"hgvs_p": "p.Tyr945Phe",
"transcript": "XM_017018870.2",
"protein_id": "XP_016874359.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 1454,
"cds_start": 2834,
"cds_end": null,
"cds_length": 4365,
"cdna_start": 2865,
"cdna_end": null,
"cdna_length": 4846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "c.2831A>T",
"hgvs_p": "p.Tyr944Phe",
"transcript": "XM_047428387.1",
"protein_id": "XP_047284343.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1453,
"cds_start": 2831,
"cds_end": null,
"cds_length": 4362,
"cdna_start": 2862,
"cdna_end": null,
"cdna_length": 5124,
"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": 23,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "n.2865A>T",
"hgvs_p": null,
"transcript": "XR_001748594.2",
"protein_id": null,
"transcript_support_level": null,
"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": 5443,
"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": 23,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"hgvs_c": "n.2904A>T",
"hgvs_p": null,
"transcript": "XR_931275.2",
"protein_id": null,
"transcript_support_level": null,
"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": 5482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "A2ML1",
"gene_hgnc_id": 23336,
"dbsnp": "rs375843284",
"frequency_reference_population": 0.00001053289,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000273624,
"gnomad_genomes_af": 0.0000854532,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0406058132648468,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.019,
"revel_prediction": "Benign",
"alphamissense_score": 0.0794,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.084,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000299698.12",
"gene_symbol": "A2ML1",
"hgnc_id": 23336,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2834A>T",
"hgvs_p": "p.Tyr945Phe"
}
],
"clinvar_disease": " susceptibility to,Otitis media,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|Otitis media, susceptibility to|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}