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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: 10-99397681-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=99397681&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "GOT1",
"hgnc_id": 4432,
"hgvs_c": "c.1108C>T",
"hgvs_p": "p.Gln370*",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_002079.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.58,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5799999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 413,
"aa_ref": "Q",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1242,
"cds_start": 1108,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_002079.3",
"gene_hgnc_id": 4432,
"gene_symbol": "GOT1",
"hgvs_c": "c.1108C>T",
"hgvs_p": "p.Gln370*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000370508.7",
"protein_coding": true,
"protein_id": "NP_002070.1",
"strand": false,
"transcript": "NM_002079.3",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 413,
"aa_ref": "Q",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": 1167,
"cds_end": null,
"cds_length": 1242,
"cds_start": 1108,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000370508.7",
"gene_hgnc_id": 4432,
"gene_symbol": "GOT1",
"hgvs_c": "c.1108C>T",
"hgvs_p": "p.Gln370*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002079.3",
"protein_coding": true,
"protein_id": "ENSP00000359539.5",
"strand": false,
"transcript": "ENST00000370508.7",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 422,
"aa_ref": "Q",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2003,
"cdna_start": 1194,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1135,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000894928.1",
"gene_hgnc_id": 4432,
"gene_symbol": "GOT1",
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Gln379*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564987.1",
"strand": false,
"transcript": "ENST00000894928.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 413,
"aa_ref": "Q",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2025,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 1242,
"cds_start": 1108,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000923596.1",
"gene_hgnc_id": 4432,
"gene_symbol": "GOT1",
"hgvs_c": "c.1108C>T",
"hgvs_p": "p.Gln370*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593655.1",
"strand": false,
"transcript": "ENST00000923596.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 412,
"aa_ref": "Q",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2011,
"cdna_start": 1204,
"cds_end": null,
"cds_length": 1239,
"cds_start": 1105,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000923597.1",
"gene_hgnc_id": 4432,
"gene_symbol": "GOT1",
"hgvs_c": "c.1105C>T",
"hgvs_p": "p.Gln369*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593656.1",
"strand": false,
"transcript": "ENST00000923597.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 400,
"aa_ref": "Q",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1939,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1069,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000894926.1",
"gene_hgnc_id": 4432,
"gene_symbol": "GOT1",
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Gln357*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564985.1",
"strand": false,
"transcript": "ENST00000894926.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 400,
"aa_ref": "Q",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1937,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1069,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000894927.1",
"gene_hgnc_id": 4432,
"gene_symbol": "GOT1",
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Gln357*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564986.1",
"strand": false,
"transcript": "ENST00000894927.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 400,
"aa_ref": "Q",
"aa_start": 357,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1524,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1069,
"consequences": [
"stop_gained"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000923598.1",
"gene_hgnc_id": 4432,
"gene_symbol": "GOT1",
"hgvs_c": "c.1069C>T",
"hgvs_p": "p.Gln357*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593657.1",
"strand": false,
"transcript": "ENST00000923598.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 378,
"aa_ref": "Q",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1843,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 1137,
"cds_start": 1003,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000955163.1",
"gene_hgnc_id": 4432,
"gene_symbol": "GOT1",
"hgvs_c": "c.1003C>T",
"hgvs_p": "p.Gln335*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625222.1",
"strand": false,
"transcript": "ENST00000955163.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 646,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000489349.1",
"gene_hgnc_id": 4432,
"gene_symbol": "GOT1",
"hgvs_c": "n.430C>T",
"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": "ENST00000489349.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs76850691",
"effect": "stop_gained",
"frequency_reference_population": 6.841302e-7,
"gene_hgnc_id": 4432,
"gene_symbol": "GOT1",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.8413e-7,
"gnomad_exomes_homalt": 0,
"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": 9.904,
"pos": 99397681,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_002079.3"
}
]
}