← 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: 12-112048335-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=112048335&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NAA25",
"hgnc_id": 25783,
"hgvs_c": "c.1837C>A",
"hgvs_p": "p.Arg613Ser",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_024953.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC124903022",
"hgnc_id": null,
"hgvs_c": "n.1959+1724G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "XR_007063465.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9331,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8528506755828857,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 972,
"aa_ref": "R",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5771,
"cdna_start": 1847,
"cds_end": null,
"cds_length": 2919,
"cds_start": 1837,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_024953.4",
"gene_hgnc_id": 25783,
"gene_symbol": "NAA25",
"hgvs_c": "c.1837C>A",
"hgvs_p": "p.Arg613Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261745.9",
"protein_coding": true,
"protein_id": "NP_079229.2",
"strand": false,
"transcript": "NM_024953.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 972,
"aa_ref": "R",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5771,
"cdna_start": 1847,
"cds_end": null,
"cds_length": 2919,
"cds_start": 1837,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000261745.9",
"gene_hgnc_id": 25783,
"gene_symbol": "NAA25",
"hgvs_c": "c.1837C>A",
"hgvs_p": "p.Arg613Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024953.4",
"protein_coding": true,
"protein_id": "ENSP00000261745.4",
"strand": false,
"transcript": "ENST00000261745.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2933,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000549711.5",
"gene_hgnc_id": 25783,
"gene_symbol": "NAA25",
"hgvs_c": "n.*1544C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000448200.1",
"strand": false,
"transcript": "ENST00000549711.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2815,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000551858.1",
"gene_hgnc_id": 25783,
"gene_symbol": "NAA25",
"hgvs_c": "n.*1924C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000446719.1",
"strand": false,
"transcript": "ENST00000551858.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2933,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000549711.5",
"gene_hgnc_id": 25783,
"gene_symbol": "NAA25",
"hgvs_c": "n.*1544C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000448200.1",
"strand": false,
"transcript": "ENST00000549711.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2815,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000551858.1",
"gene_hgnc_id": 25783,
"gene_symbol": "NAA25",
"hgvs_c": "n.*1924C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000446719.1",
"strand": false,
"transcript": "ENST00000551858.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 947,
"aa_ref": "R",
"aa_start": 588,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5488,
"cdna_start": 1774,
"cds_end": null,
"cds_length": 2844,
"cds_start": 1762,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000965677.1",
"gene_hgnc_id": 25783,
"gene_symbol": "NAA25",
"hgvs_c": "c.1762C>A",
"hgvs_p": "p.Arg588Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635736.1",
"strand": false,
"transcript": "ENST00000965677.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 942,
"aa_ref": "R",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6329,
"cdna_start": 2408,
"cds_end": null,
"cds_length": 2829,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000965676.1",
"gene_hgnc_id": 25783,
"gene_symbol": "NAA25",
"hgvs_c": "c.1747C>A",
"hgvs_p": "p.Arg583Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635735.1",
"strand": false,
"transcript": "ENST00000965676.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 923,
"aa_ref": "R",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5624,
"cdna_start": 1854,
"cds_end": null,
"cds_length": 2772,
"cds_start": 1837,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000911268.1",
"gene_hgnc_id": 25783,
"gene_symbol": "NAA25",
"hgvs_c": "c.1837C>A",
"hgvs_p": "p.Arg613Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581327.1",
"strand": false,
"transcript": "ENST00000911268.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 944,
"aa_ref": "R",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5833,
"cdna_start": 1909,
"cds_end": null,
"cds_length": 2835,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_006719606.3",
"gene_hgnc_id": 25783,
"gene_symbol": "NAA25",
"hgvs_c": "c.1753C>A",
"hgvs_p": "p.Arg585Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006719669.1",
"strand": false,
"transcript": "XM_006719606.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 836,
"aa_ref": "R",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5448,
"cdna_start": 1524,
"cds_end": null,
"cds_length": 2511,
"cds_start": 1429,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047429557.1",
"gene_hgnc_id": 25783,
"gene_symbol": "NAA25",
"hgvs_c": "c.1429C>A",
"hgvs_p": "p.Arg477Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047285513.1",
"strand": false,
"transcript": "XM_047429557.1",
"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": 5815,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000552527.5",
"gene_hgnc_id": 25783,
"gene_symbol": "NAA25",
"hgvs_c": "n.1849C>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": "ENST00000552527.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_007063465.1",
"gene_hgnc_id": null,
"gene_symbol": "LOC124903022",
"hgvs_c": "n.1959+1724G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007063465.1",
"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": 1956,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_243023.5",
"gene_hgnc_id": 25783,
"gene_symbol": "NAA25",
"hgvs_c": "n.*20C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_243023.5",
"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": 1845,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_944730.4",
"gene_hgnc_id": 25783,
"gene_symbol": "NAA25",
"hgvs_c": "n.*6C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_944730.4",
"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": 1960,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XR_944731.4",
"gene_hgnc_id": 25783,
"gene_symbol": "NAA25",
"hgvs_c": "n.*20C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_944731.4",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs760779525",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 25783,
"gene_symbol": "NAA25",
"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": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 9.602,
"pos": 112048335,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.371,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_024953.4"
}
]
}