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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: 7-154860569-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=154860569&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 154860569,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000377770.8",
"consequences": [
{
"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": 17,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.1714+6742C>T",
"hgvs_p": null,
"transcript": "NM_130797.4",
"protein_id": "NP_570629.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 865,
"cds_start": -4,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": "ENST00000377770.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.1714+6742C>T",
"hgvs_p": null,
"transcript": "ENST00000377770.8",
"protein_id": "ENSP00000367001.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 865,
"cds_start": -4,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4826,
"mane_select": "NM_130797.4",
"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": 17,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.1528+6742C>T",
"hgvs_p": null,
"transcript": "ENST00000332007.7",
"protein_id": "ENSP00000328226.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 803,
"cds_start": -4,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3768,
"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": 17,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.1522+6742C>T",
"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": 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": 18,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.1531+6742C>T",
"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": 18,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.1531+6742C>T",
"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": 18,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.1531+6742C>T",
"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,
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"cdna_start": null,
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"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": 18,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.1531+6742C>T",
"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": 18,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.1531+6742C>T",
"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,
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"cds_length": 2415,
"cdna_start": null,
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"cdna_length": 3606,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 17,
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"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.1528+6742C>T",
"hgvs_p": null,
"transcript": "NM_001936.5",
"protein_id": "NP_001927.3",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 803,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 17,
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"gene_symbol": "DPP6",
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"hgvs_c": "c.1522+6742C>T",
"hgvs_p": null,
"transcript": "NM_001039350.3",
"protein_id": "NP_001034439.1",
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},
{
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],
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"gene_symbol": "DPP6",
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"transcript": "NM_001290252.2",
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},
{
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],
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"gene_symbol": "DPP6",
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"hgvs_c": "c.1393+6742C>T",
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"transcript": "ENST00000427557.1",
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},
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],
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"gene_symbol": "DPP6",
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"hgvs_c": "c.739+6742C>T",
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},
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],
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"gene_symbol": "ENSG00000236408",
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"transcript": "ENST00000448767.1",
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},
{
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],
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"gene_symbol": "DPP6",
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},
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],
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},
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],
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"gene_symbol": "DPP6",
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"hgvs_c": "n.1145+6742C>T",
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"transcript": "ENST00000706155.1",
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},
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],
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"exon_count": 25,
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},
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],
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},
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],
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},
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],
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"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"hgvs_c": "c.1090+6742C>T",
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"transcript": "XM_017011812.3",
"protein_id": "XP_016867301.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC105375580",
"gene_hgnc_id": null,
"hgvs_c": "n.397+4741G>A",
"hgvs_p": null,
"transcript": "XR_928190.3",
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}
],
"gene_symbol": "DPP6",
"gene_hgnc_id": 3010,
"dbsnp": "rs878742",
"frequency_reference_population": 0.15392551,
"hom_count_reference_population": 2181,
"allele_count_reference_population": 23425,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.153926,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 23425,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 2181,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9800000190734863,
"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": -0.98,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.068,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000377770.8",
"gene_symbol": "DPP6",
"hgnc_id": 3010,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1714+6742C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000448767.1",
"gene_symbol": "ENSG00000236408",
"hgnc_id": 40194,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.174+4741G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "XR_928190.3",
"gene_symbol": "LOC105375580",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.397+4741G>A",
"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
}