← 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: 6-41799920-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=41799920&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "USP49",
"hgnc_id": 20078,
"hgvs_c": "c.1580A>T",
"hgvs_p": "p.Asn527Ile",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001286554.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000288721",
"hgnc_id": null,
"hgvs_c": "n.*1738A>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000684631.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1367,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.24073374271392822,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 688,
"aa_ref": "N",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8940,
"cdna_start": 1816,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1580,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001286554.2",
"gene_hgnc_id": 20078,
"gene_symbol": "USP49",
"hgvs_c": "c.1580A>T",
"hgvs_p": "p.Asn527Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000682992.1",
"protein_coding": true,
"protein_id": "NP_001273483.1",
"strand": false,
"transcript": "NM_001286554.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 688,
"aa_ref": "N",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8940,
"cdna_start": 1816,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1580,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000682992.1",
"gene_hgnc_id": 20078,
"gene_symbol": "USP49",
"hgvs_c": "c.1580A>T",
"hgvs_p": "p.Asn527Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001286554.2",
"protein_coding": true,
"protein_id": "ENSP00000507239.1",
"strand": false,
"transcript": "ENST00000682992.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 640,
"aa_ref": "N",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3177,
"cdna_start": 1802,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1580,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000373006.5",
"gene_hgnc_id": 20078,
"gene_symbol": "USP49",
"hgvs_c": "c.1580A>T",
"hgvs_p": "p.Asn527Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362097.1",
"strand": false,
"transcript": "ENST00000373006.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 585,
"aa_ref": "N",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2446,
"cdna_start": 2075,
"cds_end": null,
"cds_length": 1758,
"cds_start": 1580,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000373010.5",
"gene_hgnc_id": 20078,
"gene_symbol": "USP49",
"hgvs_c": "c.1580A>T",
"hgvs_p": "p.Asn527Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362101.1",
"strand": false,
"transcript": "ENST00000373010.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 6172,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000684631.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288721",
"hgvs_c": "n.*1738A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507261.1",
"strand": false,
"transcript": "ENST00000684631.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 6172,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000684631.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000288721",
"hgvs_c": "n.*1738A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000507261.1",
"strand": false,
"transcript": "ENST00000684631.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 688,
"aa_ref": "N",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8897,
"cdna_start": 1773,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1580,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001384542.1",
"gene_hgnc_id": 20078,
"gene_symbol": "USP49",
"hgvs_c": "c.1580A>T",
"hgvs_p": "p.Asn527Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371471.1",
"strand": false,
"transcript": "NM_001384542.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 688,
"aa_ref": "N",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9034,
"cdna_start": 1910,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1580,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000394253.7",
"gene_hgnc_id": 20078,
"gene_symbol": "USP49",
"hgvs_c": "c.1580A>T",
"hgvs_p": "p.Asn527Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377797.2",
"strand": false,
"transcript": "ENST00000394253.7",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 688,
"aa_ref": "N",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5504,
"cdna_start": 1728,
"cds_end": null,
"cds_length": 2067,
"cds_start": 1580,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000884358.1",
"gene_hgnc_id": 20078,
"gene_symbol": "USP49",
"hgvs_c": "c.1580A>T",
"hgvs_p": "p.Asn527Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554417.1",
"strand": false,
"transcript": "ENST00000884358.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 640,
"aa_ref": "N",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3191,
"cdna_start": 1816,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1580,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_018561.5",
"gene_hgnc_id": 20078,
"gene_symbol": "USP49",
"hgvs_c": "c.1580A>T",
"hgvs_p": "p.Asn527Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_061031.2",
"strand": false,
"transcript": "NM_018561.5",
"transcript_support_level": null
},
{
"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": 480,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000448078.1",
"gene_hgnc_id": 20078,
"gene_symbol": "USP49",
"hgvs_c": "n.136A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000389842.1",
"strand": false,
"transcript": "ENST00000448078.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1235676517",
"effect": "missense_variant",
"frequency_reference_population": 6.841012e-7,
"gene_hgnc_id": 20078,
"gene_symbol": "USP49",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84101e-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": "Uncertain_significance",
"phylop100way_score": 7.377,
"pos": 41799920,
"ref": "T",
"revel_prediction": "Benign",
"revel_score": 0.173,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.09000000357627869,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.09,
"transcript": "NM_001286554.2"
}
]
}