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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: 15-35372172-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=35372172&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 35372172,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_080650.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH6",
"gene_hgnc_id": 30543,
"hgvs_c": "c.782C>G",
"hgvs_p": "p.Ser261Cys",
"transcript": "NM_080650.4",
"protein_id": "NP_542381.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 267,
"cds_start": 782,
"cds_end": null,
"cds_length": 804,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": "ENST00000256538.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080650.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH6",
"gene_hgnc_id": 30543,
"hgvs_c": "c.782C>G",
"hgvs_p": "p.Ser261Cys",
"transcript": "ENST00000256538.9",
"protein_id": "ENSP00000256538.4",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 267,
"cds_start": 782,
"cds_end": null,
"cds_length": 804,
"cdna_start": 806,
"cdna_end": null,
"cdna_length": 2098,
"mane_select": "NM_080650.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000256538.9"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DPH6",
"gene_hgnc_id": 30543,
"hgvs_c": "n.200+1349C>G",
"hgvs_p": null,
"transcript": "ENST00000560386.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 3438,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000560386.5"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH6",
"gene_hgnc_id": 30543,
"hgvs_c": "c.776C>G",
"hgvs_p": "p.Ser259Cys",
"transcript": "ENST00000896513.1",
"protein_id": "ENSP00000566572.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 265,
"cds_start": 776,
"cds_end": null,
"cds_length": 798,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 2106,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896513.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH6",
"gene_hgnc_id": 30543,
"hgvs_c": "c.400C>G",
"hgvs_p": "p.Leu134Val",
"transcript": "ENST00000558266.5",
"protein_id": "ENSP00000454015.1",
"transcript_support_level": 5,
"aa_start": 134,
"aa_end": null,
"aa_length": 154,
"cds_start": 400,
"cds_end": null,
"cds_length": 465,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558266.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DPH6",
"gene_hgnc_id": 30543,
"hgvs_c": "c.750+1349C>G",
"hgvs_p": null,
"transcript": "XM_017022708.3",
"protein_id": "XP_016878197.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 271,
"cds_start": null,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2587,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022708.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DPH6",
"gene_hgnc_id": 30543,
"hgvs_c": "c.750+1349C>G",
"hgvs_p": null,
"transcript": "XM_011522160.3",
"protein_id": "XP_011520462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": null,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9928,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522160.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DPH6",
"gene_hgnc_id": 30543,
"hgvs_c": "c.750+1349C>G",
"hgvs_p": null,
"transcript": "XM_047433263.1",
"protein_id": "XP_047289219.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": null,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433263.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DPH6",
"gene_hgnc_id": 30543,
"hgvs_c": "c.750+1349C>G",
"hgvs_p": null,
"transcript": "XM_047433264.1",
"protein_id": "XP_047289220.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": null,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433264.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DPH6",
"gene_hgnc_id": 30543,
"hgvs_c": "c.750+1349C>G",
"hgvs_p": null,
"transcript": "XM_047433265.1",
"protein_id": "XP_047289221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 254,
"cds_start": null,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8314,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433265.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH6",
"gene_hgnc_id": 30543,
"hgvs_c": "n.711C>G",
"hgvs_p": null,
"transcript": "XR_001751411.3",
"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": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001751411.3"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DPH6",
"gene_hgnc_id": 30543,
"hgvs_c": "n.207+1349C>G",
"hgvs_p": null,
"transcript": "ENST00000558973.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 484,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000558973.1"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DPH6",
"gene_hgnc_id": 30543,
"hgvs_c": "n.679+1349C>G",
"hgvs_p": null,
"transcript": "XR_001751412.3",
"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": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001751412.3"
},
{
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "DPH6",
"gene_hgnc_id": 30543,
"hgvs_c": "n.679+1349C>G",
"hgvs_p": null,
"transcript": "XR_001751413.3",
"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": 9833,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_001751413.3"
},
{
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "DPH6",
"gene_hgnc_id": 30543,
"hgvs_c": "n.774+1349C>G",
"hgvs_p": null,
"transcript": "XR_007064493.1",
"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": 1857,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007064493.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR3942",
"gene_hgnc_id": 38976,
"hgvs_c": "n.*84C>G",
"hgvs_p": null,
"transcript": "ENST00000585264.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 109,
"mane_select": null,
"mane_plus": null,
"biotype": "miRNA",
"feature": "ENST00000585264.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR3942",
"gene_hgnc_id": 38976,
"hgvs_c": "n.*84C>G",
"hgvs_p": null,
"transcript": "NR_037507.1",
"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": 109,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_037507.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR3942",
"gene_hgnc_id": 38976,
"hgvs_c": "n.*108C>G",
"hgvs_p": null,
"transcript": "unassigned_transcript_2671",
"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": 21,
"mane_select": null,
"mane_plus": null,
"biotype": "miRNA",
"feature": "unassigned_transcript_2671"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIR3942",
"gene_hgnc_id": 38976,
"hgvs_c": "n.*149C>G",
"hgvs_p": null,
"transcript": "unassigned_transcript_2672",
"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": 22,
"mane_select": null,
"mane_plus": null,
"biotype": "miRNA",
"feature": "unassigned_transcript_2672"
}
],
"gene_symbol": "DPH6",
"gene_hgnc_id": 30543,
"dbsnp": "rs757335464",
"frequency_reference_population": 0.000017745459,
"hom_count_reference_population": 0,
"allele_count_reference_population": 27,
"gnomad_exomes_af": 0.0000160509,
"gnomad_genomes_af": 0.0000331398,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1383756399154663,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.072,
"revel_prediction": "Benign",
"alphamissense_score": 0.0866,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.645,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"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": "NM_080650.4",
"gene_symbol": "DPH6",
"hgnc_id": 30543,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.782C>G",
"hgvs_p": "p.Ser261Cys"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_037507.1",
"gene_symbol": "MIR3942",
"hgnc_id": 38976,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*84C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}