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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: 6-31728232-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31728232&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31728232,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000375789.7",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "c.532A>T",
"hgvs_p": "p.Met178Leu",
"transcript": "NM_001303007.2",
"protein_id": "NP_001289936.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 285,
"cds_start": 532,
"cds_end": null,
"cds_length": 858,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 1193,
"mane_select": "ENST00000375789.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "c.532A>T",
"hgvs_p": "p.Met178Leu",
"transcript": "ENST00000375789.7",
"protein_id": "ENSP00000364945.2",
"transcript_support_level": 2,
"aa_start": 178,
"aa_end": null,
"aa_length": 285,
"cds_start": 532,
"cds_end": null,
"cds_length": 858,
"cdna_start": 670,
"cdna_end": null,
"cdna_length": 1193,
"mane_select": "NM_001303007.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "c.532A>T",
"hgvs_p": "p.Met178Leu",
"transcript": "ENST00000375792.7",
"protein_id": "ENSP00000364949.3",
"transcript_support_level": 1,
"aa_start": 178,
"aa_end": null,
"aa_length": 285,
"cds_start": 532,
"cds_end": null,
"cds_length": 858,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "c.532A>T",
"hgvs_p": "p.Met178Leu",
"transcript": "NM_001303008.2",
"protein_id": "NP_001289937.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 285,
"cds_start": 532,
"cds_end": null,
"cds_length": 858,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 1273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "c.532A>T",
"hgvs_p": "p.Met178Leu",
"transcript": "NM_013974.3",
"protein_id": "NP_039268.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 285,
"cds_start": 532,
"cds_end": null,
"cds_length": 858,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 1332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "c.532A>T",
"hgvs_p": "p.Met178Leu",
"transcript": "ENST00000375787.6",
"protein_id": "ENSP00000364943.2",
"transcript_support_level": 5,
"aa_start": 178,
"aa_end": null,
"aa_length": 285,
"cds_start": 532,
"cds_end": null,
"cds_length": 858,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "c.532A>T",
"hgvs_p": "p.Met178Leu",
"transcript": "ENST00000416410.6",
"protein_id": "ENSP00000397466.2",
"transcript_support_level": 2,
"aa_start": 178,
"aa_end": null,
"aa_length": 285,
"cds_start": 532,
"cds_end": null,
"cds_length": 858,
"cdna_start": 710,
"cdna_end": null,
"cdna_length": 1235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "c.532A>T",
"hgvs_p": "p.Met178Leu",
"transcript": "ENST00000436437.2",
"protein_id": "ENSP00000395759.2",
"transcript_support_level": 3,
"aa_start": 178,
"aa_end": null,
"aa_length": 285,
"cds_start": 532,
"cds_end": null,
"cds_length": 858,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 1261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "c.247A>T",
"hgvs_p": "p.Met83Leu",
"transcript": "ENST00000437288.5",
"protein_id": "ENSP00000413164.1",
"transcript_support_level": 5,
"aa_start": 83,
"aa_end": null,
"aa_length": 187,
"cds_start": 247,
"cds_end": null,
"cds_length": 564,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "c.532A>T",
"hgvs_p": "p.Met178Leu",
"transcript": "XM_011514448.3",
"protein_id": "XP_011512750.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 285,
"cds_start": 532,
"cds_end": null,
"cds_length": 858,
"cdna_start": 713,
"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.1157A>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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "n.412A>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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"hgvs_c": "n.373A>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
},
{
"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.1070A>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
}
],
"gene_symbol": "DDAH2",
"gene_hgnc_id": 2716,
"dbsnp": "rs774227642",
"frequency_reference_population": 0.00002666541,
"hom_count_reference_population": 0,
"allele_count_reference_population": 43,
"gnomad_exomes_af": 0.0000287577,
"gnomad_genomes_af": 0.00000657471,
"gnomad_exomes_ac": 42,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8595484495162964,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.295,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3081,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.809,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000375789.7",
"gene_symbol": "DDAH2",
"hgnc_id": 2716,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.532A>T",
"hgvs_p": "p.Met178Leu"
}
],
"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
}