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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: 12-6934472-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6934472&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATN1",
"hgnc_id": 3033,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001940.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": 0.2524,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.26036137342453003,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1190,
"aa_ref": "R",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4702,
"cdna_start": 761,
"cds_end": null,
"cds_length": 3573,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001940.4",
"gene_hgnc_id": 3033,
"gene_symbol": "ATN1",
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396684.3",
"protein_coding": true,
"protein_id": "NP_001931.2",
"strand": true,
"transcript": "NM_001940.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1190,
"aa_ref": "R",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4702,
"cdna_start": 761,
"cds_end": null,
"cds_length": 3573,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000396684.3",
"gene_hgnc_id": 3033,
"gene_symbol": "ATN1",
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001940.4",
"protein_coding": true,
"protein_id": "ENSP00000379915.2",
"strand": true,
"transcript": "ENST00000396684.3",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1190,
"aa_ref": "R",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4351,
"cdna_start": 410,
"cds_end": null,
"cds_length": 3573,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000356654.8",
"gene_hgnc_id": 3033,
"gene_symbol": "ATN1",
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349076.3",
"strand": true,
"transcript": "ENST00000356654.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1207,
"aa_ref": "R",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4520,
"cdna_start": 528,
"cds_end": null,
"cds_length": 3624,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000882240.1",
"gene_hgnc_id": 3033,
"gene_symbol": "ATN1",
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552299.1",
"strand": true,
"transcript": "ENST00000882240.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1190,
"aa_ref": "R",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4355,
"cdna_start": 414,
"cds_end": null,
"cds_length": 3573,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001007026.2",
"gene_hgnc_id": 3033,
"gene_symbol": "ATN1",
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001007027.1",
"strand": true,
"transcript": "NM_001007026.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1190,
"aa_ref": "R",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5013,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 3573,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001424176.1",
"gene_hgnc_id": 3033,
"gene_symbol": "ATN1",
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411105.1",
"strand": true,
"transcript": "NM_001424176.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1190,
"aa_ref": "R",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4686,
"cdna_start": 745,
"cds_end": null,
"cds_length": 3573,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001424177.1",
"gene_hgnc_id": 3033,
"gene_symbol": "ATN1",
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411106.1",
"strand": true,
"transcript": "NM_001424177.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1190,
"aa_ref": "R",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4518,
"cdna_start": 577,
"cds_end": null,
"cds_length": 3573,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001424178.1",
"gene_hgnc_id": 3033,
"gene_symbol": "ATN1",
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411107.1",
"strand": true,
"transcript": "NM_001424178.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1190,
"aa_ref": "R",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4446,
"cdna_start": 511,
"cds_end": null,
"cds_length": 3573,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000882244.1",
"gene_hgnc_id": 3033,
"gene_symbol": "ATN1",
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552303.1",
"strand": true,
"transcript": "ENST00000882244.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1190,
"aa_ref": "R",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5187,
"cdna_start": 1246,
"cds_end": null,
"cds_length": 3573,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000932524.1",
"gene_hgnc_id": 3033,
"gene_symbol": "ATN1",
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602583.1",
"strand": true,
"transcript": "ENST00000932524.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "R",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4336,
"cdna_start": 398,
"cds_end": null,
"cds_length": 3570,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001424179.1",
"gene_hgnc_id": 3033,
"gene_symbol": "ATN1",
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411108.1",
"strand": true,
"transcript": "NM_001424179.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "R",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4699,
"cdna_start": 761,
"cds_end": null,
"cds_length": 3570,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001424180.1",
"gene_hgnc_id": 3033,
"gene_symbol": "ATN1",
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411109.1",
"strand": true,
"transcript": "NM_001424180.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "R",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4439,
"cdna_start": 501,
"cds_end": null,
"cds_length": 3570,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000882241.1",
"gene_hgnc_id": 3033,
"gene_symbol": "ATN1",
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552300.1",
"strand": true,
"transcript": "ENST00000882241.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "R",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4365,
"cdna_start": 427,
"cds_end": null,
"cds_length": 3570,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000882242.1",
"gene_hgnc_id": 3033,
"gene_symbol": "ATN1",
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552301.1",
"strand": true,
"transcript": "ENST00000882242.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "R",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4347,
"cdna_start": 411,
"cds_end": null,
"cds_length": 3570,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000882243.1",
"gene_hgnc_id": 3033,
"gene_symbol": "ATN1",
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552302.1",
"strand": true,
"transcript": "ENST00000882243.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "R",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4521,
"cdna_start": 587,
"cds_end": null,
"cds_length": 3570,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000882245.1",
"gene_hgnc_id": 3033,
"gene_symbol": "ATN1",
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552304.1",
"strand": true,
"transcript": "ENST00000882245.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "R",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4326,
"cdna_start": 387,
"cds_end": null,
"cds_length": 3570,
"cds_start": 173,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000932523.1",
"gene_hgnc_id": 3033,
"gene_symbol": "ATN1",
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602582.1",
"strand": true,
"transcript": "ENST00000932523.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "R",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4180,
"cdna_start": 241,
"cds_end": null,
"cds_length": 3570,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000932526.1",
"gene_hgnc_id": 3033,
"gene_symbol": "ATN1",
"hgvs_c": "c.170G>A",
"hgvs_p": "p.Arg57Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602585.1",
"strand": true,
"transcript": "ENST00000932526.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1144,
"aa_ref": "R",
"aa_start": 12,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4048,
"cdna_start": 111,
"cds_end": null,
"cds_length": 3435,
"cds_start": 35,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000932525.1",
"gene_hgnc_id": 3033,
"gene_symbol": "ATN1",
"hgvs_c": "c.35G>A",
"hgvs_p": "p.Arg12Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602584.1",
"strand": true,
"transcript": "ENST00000932525.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs782070350",
"effect": "missense_variant",
"frequency_reference_population": 0.000010046036,
"gene_hgnc_id": 3033,
"gene_symbol": "ATN1",
"gnomad_exomes_ac": 14,
"gnomad_exomes_af": 0.00000971823,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131513,
"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": "Inborn genetic diseases",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.123,
"pos": 6934472,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.15,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001940.4"
}
]
}