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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: 5-35037010-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=35037010&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AGXT2",
"hgnc_id": 14412,
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Val140Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_031900.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 229081,
"alphamissense_prediction": null,
"alphamissense_score": 0.0675,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.71,
"chr": "5",
"clinvar_classification": "Affects",
"clinvar_disease": " urinary excretion of,Beta-aminoisobutyric acid",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00010213786299573258,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 514,
"aa_ref": "V",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2219,
"cdna_start": 475,
"cds_end": null,
"cds_length": 1545,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_031900.4",
"gene_hgnc_id": 14412,
"gene_symbol": "AGXT2",
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Val140Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000231420.11",
"protein_coding": true,
"protein_id": "NP_114106.1",
"strand": false,
"transcript": "NM_031900.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 514,
"aa_ref": "V",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2219,
"cdna_start": 475,
"cds_end": null,
"cds_length": 1545,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000231420.11",
"gene_hgnc_id": 14412,
"gene_symbol": "AGXT2",
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Val140Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031900.4",
"protein_coding": true,
"protein_id": "ENSP00000231420.6",
"strand": false,
"transcript": "ENST00000231420.11",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 439,
"aa_ref": "V",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1561,
"cdna_start": 461,
"cds_end": null,
"cds_length": 1320,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000510428.1",
"gene_hgnc_id": 14412,
"gene_symbol": "AGXT2",
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Val140Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422799.1",
"strand": false,
"transcript": "ENST00000510428.1",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 541,
"aa_ref": "V",
"aa_start": 167,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2302,
"cdna_start": 560,
"cds_end": null,
"cds_length": 1626,
"cds_start": 499,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000853198.1",
"gene_hgnc_id": 14412,
"gene_symbol": "AGXT2",
"hgvs_c": "c.499G>A",
"hgvs_p": "p.Val167Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523257.1",
"strand": false,
"transcript": "ENST00000853198.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 540,
"aa_ref": "V",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2295,
"cdna_start": 475,
"cds_end": null,
"cds_length": 1623,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853200.1",
"gene_hgnc_id": 14412,
"gene_symbol": "AGXT2",
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Val140Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523259.1",
"strand": false,
"transcript": "ENST00000853200.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 534,
"aa_ref": "V",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2277,
"cdna_start": 535,
"cds_end": null,
"cds_length": 1605,
"cds_start": 478,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853201.1",
"gene_hgnc_id": 14412,
"gene_symbol": "AGXT2",
"hgvs_c": "c.478G>A",
"hgvs_p": "p.Val160Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523260.1",
"strand": false,
"transcript": "ENST00000853201.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 513,
"aa_ref": "V",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2216,
"cdna_start": 472,
"cds_end": null,
"cds_length": 1542,
"cds_start": 415,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001438583.1",
"gene_hgnc_id": 14412,
"gene_symbol": "AGXT2",
"hgvs_c": "c.415G>A",
"hgvs_p": "p.Val139Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425512.1",
"strand": false,
"transcript": "NM_001438583.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 513,
"aa_ref": "V",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2903,
"cdna_start": 484,
"cds_end": null,
"cds_length": 1542,
"cds_start": 415,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853195.1",
"gene_hgnc_id": 14412,
"gene_symbol": "AGXT2",
"hgvs_c": "c.415G>A",
"hgvs_p": "p.Val139Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523254.1",
"strand": false,
"transcript": "ENST00000853195.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 464,
"aa_ref": "V",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2071,
"cdna_start": 479,
"cds_end": null,
"cds_length": 1395,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853199.1",
"gene_hgnc_id": 14412,
"gene_symbol": "AGXT2",
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Val140Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523258.1",
"strand": false,
"transcript": "ENST00000853199.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 449,
"aa_ref": "V",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2024,
"cdna_start": 475,
"cds_end": null,
"cds_length": 1350,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001438584.1",
"gene_hgnc_id": 14412,
"gene_symbol": "AGXT2",
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Val140Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425513.1",
"strand": false,
"transcript": "NM_001438584.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 449,
"aa_ref": "V",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 766,
"cds_end": null,
"cds_length": 1350,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853196.1",
"gene_hgnc_id": 14412,
"gene_symbol": "AGXT2",
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Val140Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523255.1",
"strand": false,
"transcript": "ENST00000853196.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 448,
"aa_ref": "V",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2026,
"cdna_start": 476,
"cds_end": null,
"cds_length": 1347,
"cds_start": 415,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853197.1",
"gene_hgnc_id": 14412,
"gene_symbol": "AGXT2",
"hgvs_c": "c.415G>A",
"hgvs_p": "p.Val139Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523256.1",
"strand": false,
"transcript": "ENST00000853197.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 439,
"aa_ref": "V",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1723,
"cdna_start": 475,
"cds_end": null,
"cds_length": 1320,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001306173.2",
"gene_hgnc_id": 14412,
"gene_symbol": "AGXT2",
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Val140Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001293102.1",
"strand": false,
"transcript": "NM_001306173.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 439,
"aa_ref": "V",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1994,
"cdna_start": 475,
"cds_end": null,
"cds_length": 1320,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001438050.1",
"gene_hgnc_id": 14412,
"gene_symbol": "AGXT2",
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Val140Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424979.1",
"strand": false,
"transcript": "NM_001438050.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 439,
"aa_ref": "V",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2181,
"cdna_start": 661,
"cds_end": null,
"cds_length": 1320,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000618015.4",
"gene_hgnc_id": 14412,
"gene_symbol": "AGXT2",
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Val140Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479154.1",
"strand": false,
"transcript": "ENST00000618015.4",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 422,
"aa_ref": "V",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 386,
"cds_end": null,
"cds_length": 1269,
"cds_start": 142,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001438585.1",
"gene_hgnc_id": 14412,
"gene_symbol": "AGXT2",
"hgvs_c": "c.142G>A",
"hgvs_p": "p.Val48Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425514.1",
"strand": false,
"transcript": "NM_001438585.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 389,
"aa_ref": "V",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1842,
"cdna_start": 475,
"cds_end": null,
"cds_length": 1170,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853202.1",
"gene_hgnc_id": 14412,
"gene_symbol": "AGXT2",
"hgvs_c": "c.418G>A",
"hgvs_p": "p.Val140Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523261.1",
"strand": false,
"transcript": "ENST00000853202.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 411,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1854,
"cdna_start": null,
"cds_end": null,
"cds_length": 1236,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946517.1",
"gene_hgnc_id": 14412,
"gene_symbol": "AGXT2",
"hgvs_c": "c.178-1694G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616576.1",
"strand": false,
"transcript": "ENST00000946517.1",
"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": 1033,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000505542.1",
"gene_hgnc_id": 14412,
"gene_symbol": "AGXT2",
"hgvs_c": "n.327G>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": "ENST00000505542.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs37369",
"effect": "missense_variant",
"frequency_reference_population": 0.141933,
"gene_hgnc_id": 14412,
"gene_symbol": "AGXT2",
"gnomad_exomes_ac": 190486,
"gnomad_exomes_af": 0.130307,
"gnomad_exomes_homalt": 23859,
"gnomad_genomes_ac": 38595,
"gnomad_genomes_af": 0.253611,
"gnomad_genomes_homalt": 8230,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 32089,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Affects",
"phenotype_combined": "Beta-aminoisobutyric acid, urinary excretion of",
"phylop100way_prediction": "Benign",
"phylop100way_score": 0.313,
"pos": 35037010,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.007,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_031900.4"
}
]
}