← Back to variant description
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: 5-154820455-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=154820455&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 154820455,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032385.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "E",
"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": "FAXDC2",
"gene_hgnc_id": 1334,
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Gly288Glu",
"transcript": "NM_032385.5",
"protein_id": "NP_115761.2",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 333,
"cds_start": 863,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326080.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032385.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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": "FAXDC2",
"gene_hgnc_id": 1334,
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Gly288Glu",
"transcript": "ENST00000326080.10",
"protein_id": "ENSP00000320604.5",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 333,
"cds_start": 863,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032385.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326080.10"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAXDC2",
"gene_hgnc_id": 1334,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Gly318Glu",
"transcript": "ENST00000962790.1",
"protein_id": "ENSP00000632849.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 363,
"cds_start": 953,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962790.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAXDC2",
"gene_hgnc_id": 1334,
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Gly288Glu",
"transcript": "ENST00000888402.1",
"protein_id": "ENSP00000558461.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 333,
"cds_start": 863,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888402.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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": "FAXDC2",
"gene_hgnc_id": 1334,
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Gly288Glu",
"transcript": "ENST00000888404.1",
"protein_id": "ENSP00000558463.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 333,
"cds_start": 863,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888404.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"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": "FAXDC2",
"gene_hgnc_id": 1334,
"hgvs_c": "c.845G>A",
"hgvs_p": "p.Gly282Glu",
"transcript": "ENST00000888401.1",
"protein_id": "ENSP00000558460.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 327,
"cds_start": 845,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888401.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAXDC2",
"gene_hgnc_id": 1334,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Gly265Glu",
"transcript": "ENST00000517938.5",
"protein_id": "ENSP00000430286.1",
"transcript_support_level": 2,
"aa_start": 265,
"aa_end": null,
"aa_length": 310,
"cds_start": 794,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517938.5"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAXDC2",
"gene_hgnc_id": 1334,
"hgvs_c": "c.551G>A",
"hgvs_p": "p.Gly184Glu",
"transcript": "ENST00000888405.1",
"protein_id": "ENSP00000558464.1",
"transcript_support_level": null,
"aa_start": 184,
"aa_end": null,
"aa_length": 229,
"cds_start": 551,
"cds_end": null,
"cds_length": 690,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888405.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAXDC2",
"gene_hgnc_id": 1334,
"hgvs_c": "c.545G>A",
"hgvs_p": "p.Gly182Glu",
"transcript": "ENST00000888403.1",
"protein_id": "ENSP00000558462.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 227,
"cds_start": 545,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888403.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAXDC2",
"gene_hgnc_id": 1334,
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Gly288Glu",
"transcript": "XM_006714753.3",
"protein_id": "XP_006714816.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 333,
"cds_start": 863,
"cds_end": null,
"cds_length": 1002,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006714753.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAXDC2",
"gene_hgnc_id": 1334,
"hgvs_c": "c.443G>A",
"hgvs_p": "p.Gly148Glu",
"transcript": "XM_047416652.1",
"protein_id": "XP_047272608.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 193,
"cds_start": 443,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416652.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAXDC2",
"gene_hgnc_id": 1334,
"hgvs_c": "c.443G>A",
"hgvs_p": "p.Gly148Glu",
"transcript": "XM_047416654.1",
"protein_id": "XP_047272610.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 193,
"cds_start": 443,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416654.1"
},
{
"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": "FAXDC2",
"gene_hgnc_id": 1334,
"hgvs_c": "n.1856G>A",
"hgvs_p": null,
"transcript": "ENST00000423554.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000423554.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAXDC2",
"gene_hgnc_id": 1334,
"hgvs_c": "n.*484G>A",
"hgvs_p": null,
"transcript": "ENST00000520581.5",
"protein_id": "ENSP00000431084.1",
"transcript_support_level": 4,
"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": "ENST00000520581.5"
},
{
"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": "FAXDC2",
"gene_hgnc_id": 1334,
"hgvs_c": "n.2400G>A",
"hgvs_p": null,
"transcript": "ENST00000524250.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000524250.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAXDC2",
"gene_hgnc_id": 1334,
"hgvs_c": "n.*484G>A",
"hgvs_p": null,
"transcript": "ENST00000520581.5",
"protein_id": "ENSP00000431084.1",
"transcript_support_level": 4,
"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": "ENST00000520581.5"
}
],
"gene_symbol": "FAXDC2",
"gene_hgnc_id": 1334,
"dbsnp": "rs770944251",
"frequency_reference_population": 0.0000034245966,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.0000034246,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.979088544845581,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.601,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9714,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.978,
"phylop100way_prediction": "Uncertain_significance",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_032385.5",
"gene_symbol": "FAXDC2",
"hgnc_id": 1334,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Gly288Glu"
}
],
"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
}