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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: 4-154606768-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=154606768&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FGG",
"hgnc_id": 3694,
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Asp356Asn",
"inheritance_mode": "AD,AR,SD",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_021870.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5,PP3",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9184,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.02,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7658811211585999,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 453,
"aa_ref": "D",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2072,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 1362,
"cds_start": 1066,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_021870.3",
"gene_hgnc_id": 3694,
"gene_symbol": "FGG",
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Asp356Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000336098.8",
"protein_coding": true,
"protein_id": "NP_068656.2",
"strand": false,
"transcript": "NM_021870.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 453,
"aa_ref": "D",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2072,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 1362,
"cds_start": 1066,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000336098.8",
"gene_hgnc_id": 3694,
"gene_symbol": "FGG",
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Asp356Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021870.3",
"protein_coding": true,
"protein_id": "ENSP00000336829.3",
"strand": false,
"transcript": "ENST00000336098.8",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 437,
"aa_ref": "D",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 1306,
"cds_end": null,
"cds_length": 1314,
"cds_start": 1066,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000404648.7",
"gene_hgnc_id": 3694,
"gene_symbol": "FGG",
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Asp356Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384860.3",
"strand": false,
"transcript": "ENST00000404648.7",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 461,
"aa_ref": "D",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1636,
"cdna_start": 1116,
"cds_end": null,
"cds_length": 1386,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000407946.5",
"gene_hgnc_id": 3694,
"gene_symbol": "FGG",
"hgvs_c": "c.1090G>A",
"hgvs_p": "p.Asp364Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384552.1",
"strand": false,
"transcript": "ENST00000407946.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 451,
"aa_ref": "D",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1660,
"cdna_start": 1107,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906291.1",
"gene_hgnc_id": 3694,
"gene_symbol": "FGG",
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Asp354Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576350.1",
"strand": false,
"transcript": "ENST00000906291.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 450,
"aa_ref": "D",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1658,
"cdna_start": 1104,
"cds_end": null,
"cds_length": 1353,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906290.1",
"gene_hgnc_id": 3694,
"gene_symbol": "FGG",
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Asp353Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576349.1",
"strand": false,
"transcript": "ENST00000906290.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 450,
"aa_ref": "D",
"aa_start": 353,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1651,
"cdna_start": 1104,
"cds_end": null,
"cds_length": 1353,
"cds_start": 1057,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000906292.1",
"gene_hgnc_id": 3694,
"gene_symbol": "FGG",
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Asp353Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576351.1",
"strand": false,
"transcript": "ENST00000906292.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 445,
"aa_ref": "D",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1539,
"cdna_start": 1124,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000405164.5",
"gene_hgnc_id": 3694,
"gene_symbol": "FGG",
"hgvs_c": "c.1090G>A",
"hgvs_p": "p.Asp364Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384101.1",
"strand": false,
"transcript": "ENST00000405164.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 437,
"aa_ref": "D",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1565,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 1314,
"cds_start": 1066,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_000509.6",
"gene_hgnc_id": 3694,
"gene_symbol": "FGG",
"hgvs_c": "c.1066G>A",
"hgvs_p": "p.Asp356Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000500.2",
"strand": false,
"transcript": "NM_000509.6",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 272,
"aa_ref": "D",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1124,
"cdna_start": 570,
"cds_end": null,
"cds_length": 819,
"cds_start": 523,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000906289.1",
"gene_hgnc_id": 3694,
"gene_symbol": "FGG",
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Asp175Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576348.1",
"strand": false,
"transcript": "ENST00000906289.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1573,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000465913.1",
"gene_hgnc_id": 3694,
"gene_symbol": "FGG",
"hgvs_c": "n.614G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000465913.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2031,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000492082.5",
"gene_hgnc_id": 3694,
"gene_symbol": "FGG",
"hgvs_c": "n.1608G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000492082.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs121913093",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 3694,
"gene_symbol": "FGG",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.673,
"pos": 154606768,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.687,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_021870.3"
}
]
}