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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: 9-136377892-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=136377892&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 136377892,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003086.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAPC4",
"gene_hgnc_id": 11137,
"hgvs_c": "c.3935G>A",
"hgvs_p": "p.Arg1312Gln",
"transcript": "NM_003086.4",
"protein_id": "NP_003077.2",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1469,
"cds_start": 3935,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684778.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003086.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAPC4",
"gene_hgnc_id": 11137,
"hgvs_c": "c.3935G>A",
"hgvs_p": "p.Arg1312Gln",
"transcript": "ENST00000684778.1",
"protein_id": "ENSP00000510559.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1469,
"cds_start": 3935,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003086.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684778.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAPC4",
"gene_hgnc_id": 11137,
"hgvs_c": "c.3935G>A",
"hgvs_p": "p.Arg1312Gln",
"transcript": "ENST00000298532.2",
"protein_id": "ENSP00000298532.2",
"transcript_support_level": 1,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1469,
"cds_start": 3935,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298532.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAPC4",
"gene_hgnc_id": 11137,
"hgvs_c": "c.3935G>A",
"hgvs_p": "p.Arg1312Gln",
"transcript": "NM_001394201.1",
"protein_id": "NP_001381130.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1469,
"cds_start": 3935,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394201.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAPC4",
"gene_hgnc_id": 11137,
"hgvs_c": "c.3935G>A",
"hgvs_p": "p.Arg1312Gln",
"transcript": "ENST00000637388.2",
"protein_id": "ENSP00000490037.2",
"transcript_support_level": 5,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1469,
"cds_start": 3935,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637388.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAPC4",
"gene_hgnc_id": 11137,
"hgvs_c": "c.3935G>A",
"hgvs_p": "p.Arg1312Gln",
"transcript": "ENST00000939539.1",
"protein_id": "ENSP00000609598.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1469,
"cds_start": 3935,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939539.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAPC4",
"gene_hgnc_id": 11137,
"hgvs_c": "c.3935G>A",
"hgvs_p": "p.Arg1312Gln",
"transcript": "ENST00000939541.1",
"protein_id": "ENSP00000609600.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1469,
"cds_start": 3935,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939541.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAPC4",
"gene_hgnc_id": 11137,
"hgvs_c": "c.3851G>A",
"hgvs_p": "p.Arg1284Gln",
"transcript": "NM_001394202.1",
"protein_id": "NP_001381131.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1441,
"cds_start": 3851,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394202.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAPC4",
"gene_hgnc_id": 11137,
"hgvs_c": "c.3851G>A",
"hgvs_p": "p.Arg1284Gln",
"transcript": "NM_001394203.1",
"protein_id": "NP_001381132.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1441,
"cds_start": 3851,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394203.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAPC4",
"gene_hgnc_id": 11137,
"hgvs_c": "c.3851G>A",
"hgvs_p": "p.Arg1284Gln",
"transcript": "ENST00000891512.1",
"protein_id": "ENSP00000561571.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1441,
"cds_start": 3851,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891512.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAPC4",
"gene_hgnc_id": 11137,
"hgvs_c": "c.3851G>A",
"hgvs_p": "p.Arg1284Gln",
"transcript": "ENST00000891513.1",
"protein_id": "ENSP00000561572.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1441,
"cds_start": 3851,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891513.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAPC4",
"gene_hgnc_id": 11137,
"hgvs_c": "c.3851G>A",
"hgvs_p": "p.Arg1284Gln",
"transcript": "ENST00000939542.1",
"protein_id": "ENSP00000609601.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1441,
"cds_start": 3851,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939542.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAPC4",
"gene_hgnc_id": 11137,
"hgvs_c": "c.3935G>A",
"hgvs_p": "p.Arg1312Gln",
"transcript": "XM_006717242.5",
"protein_id": "XP_006717305.1",
"transcript_support_level": null,
"aa_start": 1312,
"aa_end": null,
"aa_length": 1469,
"cds_start": 3935,
"cds_end": null,
"cds_length": 4410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717242.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAPC4",
"gene_hgnc_id": 11137,
"hgvs_c": "c.3851G>A",
"hgvs_p": "p.Arg1284Gln",
"transcript": "XM_047423780.1",
"protein_id": "XP_047279736.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1441,
"cds_start": 3851,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423780.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAPC4",
"gene_hgnc_id": 11137,
"hgvs_c": "c.2147G>A",
"hgvs_p": "p.Arg716Gln",
"transcript": "XM_006717244.3",
"protein_id": "XP_006717307.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 873,
"cds_start": 2147,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006717244.3"
},
{
"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": 22,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "SNAPC4",
"gene_hgnc_id": 11137,
"hgvs_c": "c.2500-1411G>A",
"hgvs_p": null,
"transcript": "ENST00000939540.1",
"protein_id": "ENSP00000609599.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 874,
"cds_start": null,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939540.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAPC4",
"gene_hgnc_id": 11137,
"hgvs_c": "n.*3148G>A",
"hgvs_p": null,
"transcript": "ENST00000689006.1",
"protein_id": "ENSP00000509362.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000689006.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAPC4",
"gene_hgnc_id": 11137,
"hgvs_c": "n.*3148G>A",
"hgvs_p": null,
"transcript": "ENST00000689006.1",
"protein_id": "ENSP00000509362.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000689006.1"
}
],
"gene_symbol": "SNAPC4",
"gene_hgnc_id": 11137,
"dbsnp": "rs771245174",
"frequency_reference_population": 0.000017998314,
"hom_count_reference_population": 0,
"allele_count_reference_population": 29,
"gnomad_exomes_af": 0.0000171337,
"gnomad_genomes_af": 0.0000262905,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6387683749198914,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.143,
"revel_prediction": "Benign",
"alphamissense_score": 0.1036,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.136,
"phylop100way_prediction": "Benign",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP6,BS1",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP6",
"BS1"
],
"verdict": "Likely_benign",
"transcript": "NM_003086.4",
"gene_symbol": "SNAPC4",
"hgnc_id": 11137,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3935G>A",
"hgvs_p": "p.Arg1312Gln"
}
],
"clinvar_disease": "Long QT syndrome",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Long QT syndrome",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}