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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: 7-154053047-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=154053047&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 154053047,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000377770.8",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.227A>C",
"hgvs_p": "p.Asp76Ala",
"transcript": "NM_130797.4",
"protein_id": "NP_570629.2",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 865,
"cds_start": 227,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": "ENST00000377770.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.227A>C",
"hgvs_p": "p.Asp76Ala",
"transcript": "ENST00000377770.8",
"protein_id": "ENSP00000367001.3",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 865,
"cds_start": 227,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": "NM_130797.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.227A>C",
"hgvs_p": "p.Asp76Ala",
"transcript": "ENST00000406326.5",
"protein_id": "ENSP00000384393.1",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 353,
"cds_start": 227,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 2012,
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.51+165313A>C",
"hgvs_p": null,
"transcript": "ENST00000404039.5",
"protein_id": "ENSP00000385578.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 801,
"cds_start": -4,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.227A>C",
"hgvs_p": "p.Asp76Ala",
"transcript": "NM_001290253.2",
"protein_id": "NP_001277182.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 353,
"cds_start": 227,
"cds_end": null,
"cds_length": 1062,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 2032,
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.60+304039A>C",
"hgvs_p": null,
"transcript": "NM_001364497.2",
"protein_id": "NP_001351426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 804,
"cds_start": -4,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4605,
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.60+304039A>C",
"hgvs_p": null,
"transcript": "NM_001364498.2",
"protein_id": "NP_001351427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 804,
"cds_start": -4,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4601,
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.60+304039A>C",
"hgvs_p": null,
"transcript": "NM_001364499.2",
"protein_id": "NP_001351428.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 804,
"cds_start": -4,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4611,
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.60+304039A>C",
"hgvs_p": null,
"transcript": "NM_001364500.2",
"protein_id": "NP_001351429.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 804,
"cds_start": -4,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4698,
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.60+304039A>C",
"hgvs_p": null,
"transcript": "ENST00000706130.1",
"protein_id": "ENSP00000516215.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 804,
"cds_start": -4,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3606,
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.51+165313A>C",
"hgvs_p": null,
"transcript": "NM_001039350.3",
"protein_id": "NP_001034439.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 801,
"cds_start": -4,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4561,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.51+165313A>C",
"hgvs_p": null,
"transcript": "NM_001364501.2",
"protein_id": "NP_001351430.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 442,
"cds_start": -4,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000203335",
"gene_hgnc_id": null,
"hgvs_c": "n.362+4386T>G",
"hgvs_p": null,
"transcript": "ENST00000446335.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 1096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000203335",
"gene_hgnc_id": null,
"hgvs_c": "n.566+4386T>G",
"hgvs_p": null,
"transcript": "ENST00000783713.1",
"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": 1300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000203335",
"gene_hgnc_id": null,
"hgvs_c": "n.164+4386T>G",
"hgvs_p": null,
"transcript": "ENST00000783714.1",
"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": 774,
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "n.693+165313A>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4783,
"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": 26,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.60+304039A>C",
"hgvs_p": null,
"transcript": "XM_047419951.1",
"protein_id": "XP_047275907.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 804,
"cds_start": -4,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"dbsnp": "rs572667303",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.10449326038360596,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.098,
"revel_prediction": "Benign",
"alphamissense_score": 0.0909,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.408,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000377770.8",
"gene_symbol": "DPP6",
"hgnc_id": 3010,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.227A>C",
"hgvs_p": "p.Asp76Ala"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000446335.2",
"gene_symbol": "ENSG00000203335",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.362+4386T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}