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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: 7-157416065-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=157416065&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 157416065,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000262177.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Ser316Ser",
"transcript": "NM_058246.4",
"protein_id": "NP_490647.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 326,
"cds_start": 948,
"cds_end": null,
"cds_length": 981,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 2489,
"mane_select": "ENST00000262177.9",
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Ser316Ser",
"transcript": "ENST00000262177.9",
"protein_id": "ENSP00000262177.4",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 326,
"cds_start": 948,
"cds_end": null,
"cds_length": 981,
"cdna_start": 1115,
"cdna_end": null,
"cdna_length": 2489,
"mane_select": "NM_058246.4",
"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": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "n.*5471G>A",
"hgvs_p": null,
"transcript": "ENST00000459889.5",
"protein_id": "ENSP00000488263.1",
"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": 7992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "n.*5471G>A",
"hgvs_p": null,
"transcript": "ENST00000459889.5",
"protein_id": "ENSP00000488263.1",
"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": 7992,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.603G>A",
"hgvs_p": "p.Ser201Ser",
"transcript": "NM_001363676.1",
"protein_id": "NP_001350605.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 211,
"cds_start": 603,
"cds_end": null,
"cds_length": 636,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 2144,
"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": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.603G>A",
"hgvs_p": "p.Ser201Ser",
"transcript": "ENST00000443280.5",
"protein_id": "ENSP00000396267.1",
"transcript_support_level": 2,
"aa_start": 201,
"aa_end": null,
"aa_length": 211,
"cds_start": 603,
"cds_end": null,
"cds_length": 636,
"cdna_start": 749,
"cdna_end": null,
"cdna_length": 1159,
"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": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Ser316Ser",
"transcript": "XM_047419696.1",
"protein_id": "XP_047275652.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 326,
"cds_start": 948,
"cds_end": null,
"cds_length": 981,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 2491,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Ser316Ser",
"transcript": "XM_047419697.1",
"protein_id": "XP_047275653.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 326,
"cds_start": 948,
"cds_end": null,
"cds_length": 981,
"cdna_start": 1049,
"cdna_end": null,
"cdna_length": 2423,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Ser316Ser",
"transcript": "XM_047419698.1",
"protein_id": "XP_047275654.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 326,
"cds_start": 948,
"cds_end": null,
"cds_length": 981,
"cdna_start": 1232,
"cdna_end": null,
"cdna_length": 2606,
"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": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.741G>A",
"hgvs_p": "p.Ser247Ser",
"transcript": "XM_006715823.3",
"protein_id": "XP_006715886.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 257,
"cds_start": 741,
"cds_end": null,
"cds_length": 774,
"cdna_start": 908,
"cdna_end": null,
"cdna_length": 2282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"dbsnp": "rs565527346",
"frequency_reference_population": 0.00020881121,
"hom_count_reference_population": 5,
"allele_count_reference_population": 337,
"gnomad_exomes_af": 0.000214153,
"gnomad_genomes_af": 0.000157555,
"gnomad_exomes_ac": 313,
"gnomad_genomes_ac": 24,
"gnomad_exomes_homalt": 5,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6299999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.649,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000262177.9",
"gene_symbol": "DNAJB6",
"hgnc_id": 14888,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Ser316Ser"
}
],
"clinvar_disease": " Dominant,Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6),Limb-Girdle Muscular Dystrophy,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not specified|Limb-Girdle Muscular Dystrophy, Dominant|Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}