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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: 17-8264282-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=8264282&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 8264282,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000314666.11",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.1862T>A",
"hgvs_p": "p.Leu621Gln",
"transcript": "NM_012393.3",
"protein_id": "NP_036525.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 1338,
"cds_start": 1862,
"cds_end": null,
"cds_length": 4017,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 5369,
"mane_select": "ENST00000314666.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.1862T>A",
"hgvs_p": "p.Leu621Gln",
"transcript": "ENST00000314666.11",
"protein_id": "ENSP00000313490.6",
"transcript_support_level": 1,
"aa_start": 621,
"aa_end": null,
"aa_length": 1338,
"cds_start": 1862,
"cds_end": null,
"cds_length": 4017,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 5369,
"mane_select": "NM_012393.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.1862T>A",
"hgvs_p": "p.Leu621Gln",
"transcript": "XM_024450804.2",
"protein_id": "XP_024306572.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 1338,
"cds_start": 1862,
"cds_end": null,
"cds_length": 4017,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 5567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.1100T>A",
"hgvs_p": "p.Leu367Gln",
"transcript": "XM_047436295.1",
"protein_id": "XP_047292251.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 1084,
"cds_start": 1100,
"cds_end": null,
"cds_length": 3255,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 4767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.1862T>A",
"hgvs_p": "p.Leu621Gln",
"transcript": "XM_047436296.1",
"protein_id": "XP_047292252.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 992,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 3320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.1862T>A",
"hgvs_p": "p.Leu621Gln",
"transcript": "XM_006721546.4",
"protein_id": "XP_006721609.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 947,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 3226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.1862T>A",
"hgvs_p": "p.Leu621Gln",
"transcript": "XM_047436297.1",
"protein_id": "XP_047292253.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 947,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2844,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 3395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.1862T>A",
"hgvs_p": "p.Leu621Gln",
"transcript": "XM_047436298.1",
"protein_id": "XP_047292254.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 777,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2334,
"cdna_start": 1992,
"cdna_end": null,
"cdna_length": 2587,
"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": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "n.*1392T>A",
"hgvs_p": null,
"transcript": "ENST00000580356.5",
"protein_id": "ENSP00000464671.1",
"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": 4242,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "n.300T>A",
"hgvs_p": null,
"transcript": "ENST00000581288.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 527,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "n.566T>A",
"hgvs_p": null,
"transcript": "ENST00000585319.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 598,
"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": 14,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "n.*1392T>A",
"hgvs_p": null,
"transcript": "ENST00000580356.5",
"protein_id": "ENSP00000464671.1",
"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": 4242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"hgvs_c": "c.*15T>A",
"hgvs_p": null,
"transcript": "ENST00000583059.1",
"protein_id": "ENSP00000462874.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": -4,
"cds_end": null,
"cds_length": 347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PFAS",
"gene_hgnc_id": 8863,
"dbsnp": "rs11078738",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04870849847793579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.046,
"revel_prediction": "Benign",
"alphamissense_score": 0.068,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.054,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000314666.11",
"gene_symbol": "PFAS",
"hgnc_id": 8863,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1862T>A",
"hgvs_p": "p.Leu621Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}