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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: 6-31728458-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31728458&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31728458,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000375789.7",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Thr155Met",
"transcript": "NM_001303007.2",
"protein_id": "NP_001289936.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 285,
"cds_start": 464,
"cds_end": null,
"cds_length": 858,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 1193,
"mane_select": "ENST00000375789.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Thr155Met",
"transcript": "ENST00000375789.7",
"protein_id": "ENSP00000364945.2",
"transcript_support_level": 2,
"aa_start": 155,
"aa_end": null,
"aa_length": 285,
"cds_start": 464,
"cds_end": null,
"cds_length": 858,
"cdna_start": 602,
"cdna_end": null,
"cdna_length": 1193,
"mane_select": "NM_001303007.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Thr155Met",
"transcript": "ENST00000375792.7",
"protein_id": "ENSP00000364949.3",
"transcript_support_level": 1,
"aa_start": 155,
"aa_end": null,
"aa_length": 285,
"cds_start": 464,
"cds_end": null,
"cds_length": 858,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Thr155Met",
"transcript": "NM_001303008.2",
"protein_id": "NP_001289937.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 285,
"cds_start": 464,
"cds_end": null,
"cds_length": 858,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 1273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Thr155Met",
"transcript": "NM_013974.3",
"protein_id": "NP_039268.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 285,
"cds_start": 464,
"cds_end": null,
"cds_length": 858,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 1332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Thr155Met",
"transcript": "ENST00000375787.6",
"protein_id": "ENSP00000364943.2",
"transcript_support_level": 5,
"aa_start": 155,
"aa_end": null,
"aa_length": 285,
"cds_start": 464,
"cds_end": null,
"cds_length": 858,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Thr155Met",
"transcript": "ENST00000416410.6",
"protein_id": "ENSP00000397466.2",
"transcript_support_level": 2,
"aa_start": 155,
"aa_end": null,
"aa_length": 285,
"cds_start": 464,
"cds_end": null,
"cds_length": 858,
"cdna_start": 642,
"cdna_end": null,
"cdna_length": 1235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Thr155Met",
"transcript": "ENST00000436437.2",
"protein_id": "ENSP00000395759.2",
"transcript_support_level": 3,
"aa_start": 155,
"aa_end": null,
"aa_length": 285,
"cds_start": 464,
"cds_end": null,
"cds_length": 858,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 1261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "c.179C>T",
"hgvs_p": "p.Thr60Met",
"transcript": "ENST00000437288.5",
"protein_id": "ENSP00000413164.1",
"transcript_support_level": 5,
"aa_start": 60,
"aa_end": null,
"aa_length": 187,
"cds_start": 179,
"cds_end": null,
"cds_length": 564,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Thr155Met",
"transcript": "XM_011514448.3",
"protein_id": "XP_011512750.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 285,
"cds_start": 464,
"cds_end": null,
"cds_length": 858,
"cdna_start": 645,
"cdna_end": null,
"cdna_length": 1236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "n.931C>T",
"hgvs_p": null,
"transcript": "ENST00000469963.5",
"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": 1682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "n.344C>T",
"hgvs_p": null,
"transcript": "ENST00000480913.5",
"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": 937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "n.844C>T",
"hgvs_p": null,
"transcript": "ENST00000488119.1",
"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": 1121,
"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": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "n.313-166C>T",
"hgvs_p": null,
"transcript": "ENST00000483792.1",
"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": 898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"dbsnp": "rs150832184",
"frequency_reference_population": 0.00027536557,
"hom_count_reference_population": 1,
"allele_count_reference_population": 444,
"gnomad_exomes_af": 0.000284135,
"gnomad_genomes_af": 0.000191003,
"gnomad_exomes_ac": 415,
"gnomad_genomes_ac": 29,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7062011361122131,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.418,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4659,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.583,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000375789.7",
"gene_symbol": "DDAH2",
"hgnc_id": 2716,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Thr155Met"
}
],
"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
}