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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: 7-154669402-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=154669402&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 154669402,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_130797.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.723A>G",
"hgvs_p": "p.Lys241Lys",
"transcript": "NM_130797.4",
"protein_id": "NP_570629.2",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 865,
"cds_start": 723,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377770.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130797.4"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.723A>G",
"hgvs_p": "p.Lys241Lys",
"transcript": "ENST00000377770.8",
"protein_id": "ENSP00000367001.3",
"transcript_support_level": 1,
"aa_start": 241,
"aa_end": null,
"aa_length": 865,
"cds_start": 723,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_130797.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377770.8"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.537A>G",
"hgvs_p": "p.Lys179Lys",
"transcript": "ENST00000332007.7",
"protein_id": "ENSP00000328226.3",
"transcript_support_level": 1,
"aa_start": 179,
"aa_end": null,
"aa_length": 803,
"cds_start": 537,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332007.7"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.531A>G",
"hgvs_p": "p.Lys177Lys",
"transcript": "ENST00000404039.5",
"protein_id": "ENSP00000385578.1",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 801,
"cds_start": 531,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404039.5"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.540A>G",
"hgvs_p": "p.Lys180Lys",
"transcript": "NM_001364497.2",
"protein_id": "NP_001351426.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 804,
"cds_start": 540,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364497.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.540A>G",
"hgvs_p": "p.Lys180Lys",
"transcript": "NM_001364498.2",
"protein_id": "NP_001351427.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 804,
"cds_start": 540,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364498.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.540A>G",
"hgvs_p": "p.Lys180Lys",
"transcript": "NM_001364499.2",
"protein_id": "NP_001351428.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 804,
"cds_start": 540,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364499.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.540A>G",
"hgvs_p": "p.Lys180Lys",
"transcript": "NM_001364500.2",
"protein_id": "NP_001351429.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 804,
"cds_start": 540,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364500.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.540A>G",
"hgvs_p": "p.Lys180Lys",
"transcript": "ENST00000706130.1",
"protein_id": "ENSP00000516215.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 804,
"cds_start": 540,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706130.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.537A>G",
"hgvs_p": "p.Lys179Lys",
"transcript": "NM_001936.5",
"protein_id": "NP_001927.3",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 803,
"cds_start": 537,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001936.5"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.531A>G",
"hgvs_p": "p.Lys177Lys",
"transcript": "NM_001039350.3",
"protein_id": "NP_001034439.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 801,
"cds_start": 531,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001039350.3"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.531A>G",
"hgvs_p": "p.Lys177Lys",
"transcript": "NM_001364501.2",
"protein_id": "NP_001351430.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 442,
"cds_start": 531,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364501.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.540A>G",
"hgvs_p": "p.Lys180Lys",
"transcript": "XM_047419951.1",
"protein_id": "XP_047275907.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 804,
"cds_start": 540,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419951.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.99A>G",
"hgvs_p": "p.Lys33Lys",
"transcript": "XM_017011812.3",
"protein_id": "XP_016867301.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 657,
"cds_start": 99,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011812.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.-253A>G",
"hgvs_p": null,
"transcript": "ENST00000706151.1",
"protein_id": "ENSP00000516234.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 540,
"cds_start": null,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706151.1"
},
{
"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": 24,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.442-58365A>G",
"hgvs_p": null,
"transcript": "NM_001290252.2",
"protein_id": "NP_001277181.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": null,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001290252.2"
},
{
"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": 24,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.442-58365A>G",
"hgvs_p": null,
"transcript": "ENST00000427557.1",
"protein_id": "ENSP00000397303.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 758,
"cds_start": null,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427557.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "n.369A>G",
"hgvs_p": null,
"transcript": "ENST00000706153.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000706153.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "n.1173A>G",
"hgvs_p": null,
"transcript": "NR_157195.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_157195.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "n.873A>G",
"hgvs_p": null,
"transcript": "NR_157196.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_157196.2"
}
],
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"dbsnp": "rs3807218",
"frequency_reference_population": 0.88727397,
"hom_count_reference_population": 615219,
"allele_count_reference_population": 1381356,
"gnomad_exomes_af": 0.893685,
"gnomad_genomes_af": 0.828106,
"gnomad_exomes_ac": 1255315,
"gnomad_genomes_ac": 126041,
"gnomad_exomes_homalt": 562280,
"gnomad_genomes_homalt": 52939,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.5,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_130797.4",
"gene_symbol": "DPP6",
"hgnc_id": 3010,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.723A>G",
"hgvs_p": "p.Lys241Lys"
}
],
"clinvar_disease": " 2, autosomal dominant 33, paroxysmal familial,Intellectual disability,Ventricular fibrillation,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|Intellectual disability, autosomal dominant 33;Ventricular fibrillation, paroxysmal familial, 2|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}