← 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: 4-3473466-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=3473466&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 3473466,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000340083.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOK7",
"gene_hgnc_id": 26594,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Arg54His",
"transcript": "NM_173660.5",
"protein_id": "NP_775931.3",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 504,
"cds_start": 161,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 2566,
"mane_select": "ENST00000340083.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOK7",
"gene_hgnc_id": 26594,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Arg54His",
"transcript": "ENST00000340083.6",
"protein_id": "ENSP00000344432.5",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 504,
"cds_start": 161,
"cds_end": null,
"cds_length": 1515,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 2566,
"mane_select": "NM_173660.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOK7",
"gene_hgnc_id": 26594,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Arg54His",
"transcript": "NM_001301071.2",
"protein_id": "NP_001288000.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 608,
"cds_start": 161,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 2554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOK7",
"gene_hgnc_id": 26594,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Arg54His",
"transcript": "NM_001164673.2",
"protein_id": "NP_001158145.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 255,
"cds_start": 161,
"cds_end": null,
"cds_length": 768,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 2555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOK7",
"gene_hgnc_id": 26594,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Arg54His",
"transcript": "ENST00000507039.5",
"protein_id": "ENSP00000423614.1",
"transcript_support_level": 2,
"aa_start": 54,
"aa_end": null,
"aa_length": 255,
"cds_start": 161,
"cds_end": null,
"cds_length": 768,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 2551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOK7",
"gene_hgnc_id": 26594,
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Arg54His",
"transcript": "XM_011513435.3",
"protein_id": "XP_011511737.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 636,
"cds_start": 161,
"cds_end": null,
"cds_length": 1911,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 2376,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DOK7",
"gene_hgnc_id": 26594,
"hgvs_c": "n.180G>A",
"hgvs_p": null,
"transcript": "ENST00000511267.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DOK7",
"gene_hgnc_id": 26594,
"hgvs_c": "c.100+9915G>A",
"hgvs_p": null,
"transcript": "NM_001363811.2",
"protein_id": "NP_001350740.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": -4,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DOK7",
"gene_hgnc_id": 26594,
"hgvs_c": "c.100+9915G>A",
"hgvs_p": null,
"transcript": "ENST00000643608.1",
"protein_id": "ENSP00000495701.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 464,
"cds_start": -4,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DOK7",
"gene_hgnc_id": 26594,
"hgvs_c": "n.165+9915G>A",
"hgvs_p": null,
"transcript": "ENST00000503688.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DOK7",
"gene_hgnc_id": 26594,
"dbsnp": "rs201818140",
"frequency_reference_population": 0.00016014102,
"hom_count_reference_population": 0,
"allele_count_reference_population": 258,
"gnomad_exomes_af": 0.0000808937,
"gnomad_genomes_af": 0.00091878,
"gnomad_exomes_ac": 118,
"gnomad_genomes_ac": 140,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.102039635181427,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.461,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3259,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.019,
"phylop100way_prediction": "Uncertain_significance",
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS1",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000340083.6",
"gene_symbol": "DOK7",
"hgnc_id": 26594,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.161G>A",
"hgvs_p": "p.Arg54His"
}
],
"clinvar_disease": "Congenital myasthenic syndrome 10,Fetal akinesia deformation sequence 1,Inborn genetic diseases,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1 B:1",
"phenotype_combined": "not provided|Congenital myasthenic syndrome 10;Fetal akinesia deformation sequence 1|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}