← 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: 19-44650057-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=44650057&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 44650057,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "ENST00000425690.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVR",
"gene_hgnc_id": 9705,
"hgvs_c": "c.676G>T",
"hgvs_p": "p.Glu226*",
"transcript": "NM_006505.5",
"protein_id": "NP_006496.4",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 417,
"cds_start": 676,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 5792,
"mane_select": "ENST00000425690.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVR",
"gene_hgnc_id": 9705,
"hgvs_c": "c.676G>T",
"hgvs_p": "p.Glu226*",
"transcript": "ENST00000425690.8",
"protein_id": "ENSP00000402060.2",
"transcript_support_level": 1,
"aa_start": 226,
"aa_end": null,
"aa_length": 417,
"cds_start": 676,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 5792,
"mane_select": "NM_006505.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVR",
"gene_hgnc_id": 9705,
"hgvs_c": "c.676G>T",
"hgvs_p": "p.Glu226*",
"transcript": "ENST00000406449.8",
"protein_id": "ENSP00000383907.3",
"transcript_support_level": 1,
"aa_start": 226,
"aa_end": null,
"aa_length": 392,
"cds_start": 676,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVR",
"gene_hgnc_id": 9705,
"hgvs_c": "c.676G>T",
"hgvs_p": "p.Glu226*",
"transcript": "ENST00000706603.1",
"protein_id": "ENSP00000516465.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 439,
"cds_start": 676,
"cds_end": null,
"cds_length": 1320,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVR",
"gene_hgnc_id": 9705,
"hgvs_c": "c.676G>T",
"hgvs_p": "p.Glu226*",
"transcript": "NM_001135770.4",
"protein_id": "NP_001129242.2",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 392,
"cds_start": 676,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 1531,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVR",
"gene_hgnc_id": 9705,
"hgvs_c": "c.676G>T",
"hgvs_p": "p.Glu226*",
"transcript": "NM_001135768.3",
"protein_id": "NP_001129240.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 372,
"cds_start": 676,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 5657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVR",
"gene_hgnc_id": 9705,
"hgvs_c": "c.676G>T",
"hgvs_p": "p.Glu226*",
"transcript": "ENST00000403059.8",
"protein_id": "ENSP00000385344.3",
"transcript_support_level": 2,
"aa_start": 226,
"aa_end": null,
"aa_length": 372,
"cds_start": 676,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 3078,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVR",
"gene_hgnc_id": 9705,
"hgvs_c": "c.676G>T",
"hgvs_p": "p.Glu226*",
"transcript": "NM_001135769.3",
"protein_id": "NP_001129241.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 364,
"cds_start": 676,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 863,
"cdna_end": null,
"cdna_length": 5633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVR",
"gene_hgnc_id": 9705,
"hgvs_c": "c.676G>T",
"hgvs_p": "p.Glu226*",
"transcript": "ENST00000344956.8",
"protein_id": "ENSP00000340870.3",
"transcript_support_level": 5,
"aa_start": 226,
"aa_end": null,
"aa_length": 364,
"cds_start": 676,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 3166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVR",
"gene_hgnc_id": 9705,
"hgvs_c": "c.676G>T",
"hgvs_p": "p.Glu226*",
"transcript": "ENST00000706606.1",
"protein_id": "ENSP00000516467.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 335,
"cds_start": 676,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 901,
"cdna_end": null,
"cdna_length": 2165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVR",
"gene_hgnc_id": 9705,
"hgvs_c": "c.16G>T",
"hgvs_p": "p.Glu6*",
"transcript": "ENST00000587785.1",
"protein_id": "ENSP00000466447.1",
"transcript_support_level": 3,
"aa_start": 6,
"aa_end": null,
"aa_length": 69,
"cds_start": 16,
"cds_end": null,
"cds_length": 210,
"cdna_start": 17,
"cdna_end": null,
"cdna_length": 356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVR",
"gene_hgnc_id": 9705,
"hgvs_c": "n.*464G>T",
"hgvs_p": null,
"transcript": "ENST00000187830.2",
"protein_id": "ENSP00000187830.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVR",
"gene_hgnc_id": 9705,
"hgvs_c": "n.676G>T",
"hgvs_p": null,
"transcript": "ENST00000706604.1",
"protein_id": "ENSP00000516466.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVR",
"gene_hgnc_id": 9705,
"hgvs_c": "n.915G>T",
"hgvs_p": null,
"transcript": "ENST00000706605.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVR",
"gene_hgnc_id": 9705,
"hgvs_c": "n.676G>T",
"hgvs_p": null,
"transcript": "ENST00000706607.1",
"protein_id": "ENSP00000516468.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PVR",
"gene_hgnc_id": 9705,
"hgvs_c": "n.*464G>T",
"hgvs_p": null,
"transcript": "ENST00000187830.2",
"protein_id": "ENSP00000187830.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CEACAM16-AS1",
"gene_hgnc_id": 55317,
"hgvs_c": "n.409-17438C>A",
"hgvs_p": null,
"transcript": "ENST00000590796.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEACAM16-AS1",
"gene_hgnc_id": 55317,
"hgvs_c": "n.476-17438C>A",
"hgvs_p": null,
"transcript": "ENST00000662585.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PVR",
"gene_hgnc_id": 9705,
"dbsnp": "rs139528439",
"frequency_reference_population": 0.000024449091,
"hom_count_reference_population": 0,
"allele_count_reference_population": 38,
"gnomad_exomes_af": 0.0000235388,
"gnomad_genomes_af": 0.0000328282,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.49000000953674316,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.49,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.374,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.12,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000425690.8",
"gene_symbol": "PVR",
"hgnc_id": 9705,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.676G>T",
"hgvs_p": "p.Glu226*"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000662585.1",
"gene_symbol": "CEACAM16-AS1",
"hgnc_id": 55317,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.476-17438C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}