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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: 10-101608897-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=101608897&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 101608897,
"ref": "T",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000370151.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.467T>A",
"hgvs_p": "p.Leu156*",
"transcript": "NM_015448.3",
"protein_id": "NP_056263.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 203,
"cds_start": 467,
"cds_end": null,
"cds_length": 612,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 819,
"mane_select": "ENST00000370151.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.467T>A",
"hgvs_p": "p.Leu156*",
"transcript": "ENST00000370151.9",
"protein_id": "ENSP00000359170.4",
"transcript_support_level": 1,
"aa_start": 156,
"aa_end": null,
"aa_length": 203,
"cds_start": 467,
"cds_end": null,
"cds_length": 612,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 819,
"mane_select": "NM_015448.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.500T>A",
"hgvs_p": "p.Leu167*",
"transcript": "NM_001329742.2",
"protein_id": "NP_001316671.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 214,
"cds_start": 500,
"cds_end": null,
"cds_length": 645,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 852,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.431T>A",
"hgvs_p": "p.Leu144*",
"transcript": "NM_001329743.2",
"protein_id": "NP_001316672.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 191,
"cds_start": 431,
"cds_end": null,
"cds_length": 576,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.200T>A",
"hgvs_p": "p.Leu67*",
"transcript": "NM_001329745.2",
"protein_id": "NP_001316674.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 114,
"cds_start": 200,
"cds_end": null,
"cds_length": 345,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.508T>A",
"hgvs_p": "p.Cys170Ser",
"transcript": "NM_001329744.2",
"protein_id": "NP_001316673.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 170,
"cds_start": 508,
"cds_end": null,
"cds_length": 513,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.508T>A",
"hgvs_p": "p.Cys170Ser",
"transcript": "ENST00000370147.5",
"protein_id": "ENSP00000359166.1",
"transcript_support_level": 2,
"aa_start": 170,
"aa_end": null,
"aa_length": 170,
"cds_start": 508,
"cds_end": null,
"cds_length": 513,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.508T>A",
"hgvs_p": "p.Cys170Ser",
"transcript": "ENST00000626968.2",
"protein_id": "ENSP00000486078.1",
"transcript_support_level": 5,
"aa_start": 170,
"aa_end": null,
"aa_length": 170,
"cds_start": 508,
"cds_end": null,
"cds_length": 513,
"cdna_start": 536,
"cdna_end": null,
"cdna_length": 541,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "n.289T>A",
"hgvs_p": null,
"transcript": "ENST00000475443.1",
"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": 731,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"hgvs_c": "c.297-470T>A",
"hgvs_p": null,
"transcript": "ENST00000434727.1",
"protein_id": "ENSP00000403505.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": -4,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DPCD",
"gene_hgnc_id": 24542,
"dbsnp": "rs7006",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2711901366710663,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.026,
"revel_prediction": "Benign",
"alphamissense_score": 0.1271,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.597,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000370151.9",
"gene_symbol": "DPCD",
"hgnc_id": 24542,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.467T>A",
"hgvs_p": "p.Leu156*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}