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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: 8-144355646-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144355646&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144355646,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_012162.4",
"consequences": [
{
"aa_ref": "Y",
"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": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1505A>G",
"hgvs_p": "p.Tyr502Cys",
"transcript": "NM_012162.4",
"protein_id": "NP_036294.2",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 539,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1530,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": "ENST00000331890.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"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": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1505A>G",
"hgvs_p": "p.Tyr502Cys",
"transcript": "ENST00000331890.6",
"protein_id": "ENSP00000330098.5",
"transcript_support_level": 1,
"aa_start": 502,
"aa_end": null,
"aa_length": 539,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 1530,
"cdna_end": null,
"cdna_length": 1745,
"mane_select": "NM_012162.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"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": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1487A>G",
"hgvs_p": "p.Tyr496Cys",
"transcript": "ENST00000455319.6",
"protein_id": "ENSP00000403873.2",
"transcript_support_level": 1,
"aa_start": 496,
"aa_end": null,
"aa_length": 533,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 1727,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "n.2893A>G",
"hgvs_p": null,
"transcript": "ENST00000530142.5",
"protein_id": null,
"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": 3108,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"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": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "c.1487A>G",
"hgvs_p": "p.Tyr496Cys",
"transcript": "NM_024555.6",
"protein_id": "NP_078831.4",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 533,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1512,
"cdna_end": null,
"cdna_length": 1727,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "n.1792A>G",
"hgvs_p": null,
"transcript": "ENST00000524492.5",
"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": 2007,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"hgvs_c": "n.566A>G",
"hgvs_p": null,
"transcript": "ENST00000526524.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.-463+956T>C",
"hgvs_p": null,
"transcript": "ENST00000532815.2",
"protein_id": "ENSP00000501933.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": -4,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.-111+263T>C",
"hgvs_p": null,
"transcript": "ENST00000675292.1",
"protein_id": "ENSP00000502652.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": -4,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.-110-3538T>C",
"hgvs_p": null,
"transcript": "ENST00000675888.1",
"protein_id": "ENSP00000502294.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": -4,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "c.-111+1335T>C",
"hgvs_p": null,
"transcript": "ENST00000524541.5",
"protein_id": "ENSP00000434239.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": -4,
"cds_end": null,
"cds_length": 208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC52A2",
"gene_hgnc_id": 30224,
"hgvs_c": "n.193+801T>C",
"hgvs_p": null,
"transcript": "ENST00000644270.1",
"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": 397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000271698",
"gene_hgnc_id": null,
"hgvs_c": "n.-38A>G",
"hgvs_p": null,
"transcript": "ENST00000531225.1",
"protein_id": "ENSP00000436572.2",
"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": 1596,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "FBXL6",
"gene_hgnc_id": 13603,
"dbsnp": null,
"frequency_reference_population": 6.8556074e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85561e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5827472805976868,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.186,
"revel_prediction": "Benign",
"alphamissense_score": 0.3345,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.159,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012162.4",
"gene_symbol": "FBXL6",
"hgnc_id": 13603,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1505A>G",
"hgvs_p": "p.Tyr502Cys"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000532815.2",
"gene_symbol": "SLC52A2",
"hgnc_id": 30224,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-463+956T>C",
"hgvs_p": null
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000531225.1",
"gene_symbol": "ENSG00000271698",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-38A>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
}