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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: 17-2036598-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=2036598&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 2036598,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000263083.12",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH1",
"gene_hgnc_id": 3003,
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Thr157Ile",
"transcript": "NM_001383.6",
"protein_id": "NP_001374.4",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 438,
"cds_start": 470,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 2646,
"mane_select": "ENST00000263083.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH1",
"gene_hgnc_id": 3003,
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Thr157Ile",
"transcript": "ENST00000263083.12",
"protein_id": "ENSP00000263083.7",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 438,
"cds_start": 470,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 2646,
"mane_select": "NM_001383.6",
"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": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH1",
"gene_hgnc_id": 3003,
"hgvs_c": "n.357C>T",
"hgvs_p": null,
"transcript": "ENST00000575667.6",
"protein_id": "ENSP00000460431.2",
"transcript_support_level": 1,
"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": 2518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH1",
"gene_hgnc_id": 3003,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Thr162Ile",
"transcript": "ENST00000674200.2",
"protein_id": "ENSP00000501368.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 443,
"cds_start": 485,
"cds_end": null,
"cds_length": 1332,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 2662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH1",
"gene_hgnc_id": 3003,
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Thr157Ile",
"transcript": "ENST00000571418.7",
"protein_id": "ENSP00000458838.2",
"transcript_support_level": 2,
"aa_start": 157,
"aa_end": null,
"aa_length": 427,
"cds_start": 470,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 2607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH1",
"gene_hgnc_id": 3003,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Thr162Ile",
"transcript": "NM_001346574.1",
"protein_id": "NP_001333503.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 422,
"cds_start": 485,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 2157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH1",
"gene_hgnc_id": 3003,
"hgvs_c": "c.485C>T",
"hgvs_p": "p.Thr162Ile",
"transcript": "NM_001346575.1",
"protein_id": "NP_001333504.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 411,
"cds_start": 485,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 2124,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH1",
"gene_hgnc_id": 3003,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Thr82Ile",
"transcript": "ENST00000570477.6",
"protein_id": "ENSP00000458726.1",
"transcript_support_level": 2,
"aa_start": 82,
"aa_end": null,
"aa_length": 363,
"cds_start": 245,
"cds_end": null,
"cds_length": 1092,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH1",
"gene_hgnc_id": 3003,
"hgvs_c": "c.65C>T",
"hgvs_p": "p.Thr22Ile",
"transcript": "NM_001346576.2",
"protein_id": "NP_001333505.1",
"transcript_support_level": null,
"aa_start": 22,
"aa_end": null,
"aa_length": 303,
"cds_start": 65,
"cds_end": null,
"cds_length": 912,
"cdna_start": 365,
"cdna_end": null,
"cdna_length": 2524,
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH1",
"gene_hgnc_id": 3003,
"hgvs_c": "n.*165C>T",
"hgvs_p": null,
"transcript": "ENST00000570833.5",
"protein_id": "ENSP00000467936.1",
"transcript_support_level": 5,
"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": 558,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH1",
"gene_hgnc_id": 3003,
"hgvs_c": "n.910C>T",
"hgvs_p": null,
"transcript": "ENST00000572819.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 1345,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH1",
"gene_hgnc_id": 3003,
"hgvs_c": "n.454C>T",
"hgvs_p": null,
"transcript": "ENST00000576129.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 991,
"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": "DPH1",
"gene_hgnc_id": 3003,
"hgvs_c": "n.327C>T",
"hgvs_p": null,
"transcript": "ENST00000576891.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 537,
"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": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH1",
"gene_hgnc_id": 3003,
"hgvs_c": "n.487C>T",
"hgvs_p": null,
"transcript": "NR_144474.2",
"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": 3002,
"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": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH1",
"gene_hgnc_id": 3003,
"hgvs_c": "n.487C>T",
"hgvs_p": null,
"transcript": "NR_144475.2",
"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": 2969,
"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": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH1",
"gene_hgnc_id": 3003,
"hgvs_c": "n.487C>T",
"hgvs_p": null,
"transcript": "NR_144476.2",
"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": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPH1",
"gene_hgnc_id": 3003,
"hgvs_c": "n.*165C>T",
"hgvs_p": null,
"transcript": "ENST00000570833.5",
"protein_id": "ENSP00000467936.1",
"transcript_support_level": 5,
"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": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DPH1",
"gene_hgnc_id": 3003,
"dbsnp": "rs116911386",
"frequency_reference_population": 0.006628322,
"hom_count_reference_population": 51,
"allele_count_reference_population": 10699,
"gnomad_exomes_af": 0.00672243,
"gnomad_genomes_af": 0.00572509,
"gnomad_exomes_ac": 9827,
"gnomad_genomes_ac": 872,
"gnomad_exomes_homalt": 51,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.01059386134147644,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.0963,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.16,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000263083.12",
"gene_symbol": "DPH1",
"hgnc_id": 3003,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.470C>T",
"hgvs_p": "p.Thr157Ile"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}