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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: 16-72130708-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=72130708&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 72130708,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_031293.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMFBP1",
"gene_hgnc_id": 17728,
"hgvs_c": "c.1462C>T",
"hgvs_p": "p.Gln488*",
"transcript": "NM_031293.3",
"protein_id": "NP_112583.2",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 1007,
"cds_start": 1462,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000237353.15",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031293.3"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMFBP1",
"gene_hgnc_id": 17728,
"hgvs_c": "c.1462C>T",
"hgvs_p": "p.Gln488*",
"transcript": "ENST00000237353.15",
"protein_id": "ENSP00000237353.10",
"transcript_support_level": 1,
"aa_start": 488,
"aa_end": null,
"aa_length": 1007,
"cds_start": 1462,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_031293.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000237353.15"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMFBP1",
"gene_hgnc_id": 17728,
"hgvs_c": "c.1477C>T",
"hgvs_p": "p.Gln493*",
"transcript": "ENST00000537465.5",
"protein_id": "ENSP00000443817.1",
"transcript_support_level": 2,
"aa_start": 493,
"aa_end": null,
"aa_length": 1022,
"cds_start": 1477,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537465.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMFBP1",
"gene_hgnc_id": 17728,
"hgvs_c": "c.1462C>T",
"hgvs_p": "p.Gln488*",
"transcript": "ENST00000537792.6",
"protein_id": "ENSP00000443366.2",
"transcript_support_level": 2,
"aa_start": 488,
"aa_end": null,
"aa_length": 950,
"cds_start": 1462,
"cds_end": null,
"cds_length": 2853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537792.6"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMFBP1",
"gene_hgnc_id": 17728,
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.Gln343*",
"transcript": "NM_001160213.2",
"protein_id": "NP_001153685.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 882,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001160213.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMFBP1",
"gene_hgnc_id": 17728,
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.Gln343*",
"transcript": "ENST00000355636.10",
"protein_id": "ENSP00000347854.6",
"transcript_support_level": 5,
"aa_start": 343,
"aa_end": null,
"aa_length": 882,
"cds_start": 1027,
"cds_end": null,
"cds_length": 2649,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355636.10"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMFBP1",
"gene_hgnc_id": 17728,
"hgvs_c": "c.1477C>T",
"hgvs_p": "p.Gln493*",
"transcript": "XM_011523357.4",
"protein_id": "XP_011521659.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1069,
"cds_start": 1477,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523357.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMFBP1",
"gene_hgnc_id": 17728,
"hgvs_c": "c.1477C>T",
"hgvs_p": "p.Gln493*",
"transcript": "XM_011523358.4",
"protein_id": "XP_011521660.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1069,
"cds_start": 1477,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523358.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMFBP1",
"gene_hgnc_id": 17728,
"hgvs_c": "c.1477C>T",
"hgvs_p": "p.Gln493*",
"transcript": "XM_011523360.4",
"protein_id": "XP_011521662.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1069,
"cds_start": 1477,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523360.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMFBP1",
"gene_hgnc_id": 17728,
"hgvs_c": "c.1477C>T",
"hgvs_p": "p.Gln493*",
"transcript": "XM_011523361.4",
"protein_id": "XP_011521663.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1069,
"cds_start": 1477,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523361.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMFBP1",
"gene_hgnc_id": 17728,
"hgvs_c": "c.1468C>T",
"hgvs_p": "p.Gln490*",
"transcript": "XM_011523362.4",
"protein_id": "XP_011521664.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 1066,
"cds_start": 1468,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523362.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMFBP1",
"gene_hgnc_id": 17728,
"hgvs_c": "c.1477C>T",
"hgvs_p": "p.Gln493*",
"transcript": "XM_047434734.1",
"protein_id": "XP_047290690.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1049,
"cds_start": 1477,
"cds_end": null,
"cds_length": 3150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434734.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMFBP1",
"gene_hgnc_id": 17728,
"hgvs_c": "c.772C>T",
"hgvs_p": "p.Gln258*",
"transcript": "XM_047434735.1",
"protein_id": "XP_047290691.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 834,
"cds_start": 772,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434735.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMFBP1",
"gene_hgnc_id": 17728,
"hgvs_c": "n.*1272C>T",
"hgvs_p": null,
"transcript": "ENST00000379073.9",
"protein_id": "ENSP00000368364.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000379073.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMFBP1",
"gene_hgnc_id": 17728,
"hgvs_c": "n.871C>T",
"hgvs_p": null,
"transcript": "ENST00000537392.1",
"protein_id": "ENSP00000439564.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000537392.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PMFBP1",
"gene_hgnc_id": 17728,
"hgvs_c": "n.*1272C>T",
"hgvs_p": null,
"transcript": "ENST00000379073.9",
"protein_id": "ENSP00000368364.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000379073.9"
}
],
"gene_symbol": "PMFBP1",
"gene_hgnc_id": 17728,
"dbsnp": "rs777263062",
"frequency_reference_population": 0.0000034253144,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342531,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2800000011920929,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.482,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_031293.3",
"gene_symbol": "PMFBP1",
"hgnc_id": 17728,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1462C>T",
"hgvs_p": "p.Gln488*"
}
],
"clinvar_disease": "Spermatogenic failure 31",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Spermatogenic failure 31",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}