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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: 17-31181427-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=31181427&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 31181427,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001042492.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Ala198Thr",
"transcript": "NM_001042492.3",
"protein_id": "NP_001035957.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 2839,
"cds_start": 592,
"cds_end": null,
"cds_length": 8520,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 12373,
"mane_select": "ENST00000358273.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Ala198Thr",
"transcript": "ENST00000358273.9",
"protein_id": "ENSP00000351015.4",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 2839,
"cds_start": 592,
"cds_end": null,
"cds_length": 8520,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 12373,
"mane_select": "NM_001042492.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Ala198Thr",
"transcript": "ENST00000356175.7",
"protein_id": "ENSP00000348498.3",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 2818,
"cds_start": 592,
"cds_end": null,
"cds_length": 8457,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 12362,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Ala198Thr",
"transcript": "ENST00000431387.8",
"protein_id": "ENSP00000412921.4",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 593,
"cds_start": 592,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Ala198Thr",
"transcript": "ENST00000487476.5",
"protein_id": "ENSP00000491589.1",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 551,
"cds_start": 592,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 2265,
"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": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "n.592G>A",
"hgvs_p": null,
"transcript": "ENST00000579081.6",
"protein_id": "ENSP00000462408.2",
"transcript_support_level": 1,
"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": 8788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Ala198Thr",
"transcript": "ENST00000691014.1",
"protein_id": "ENSP00000510595.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 2849,
"cds_start": 592,
"cds_end": null,
"cds_length": 8550,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 12415,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Ala198Thr",
"transcript": "NM_000267.4",
"protein_id": "NP_000258.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 2818,
"cds_start": 592,
"cds_end": null,
"cds_length": 8457,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 12310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 59,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Ala198Thr",
"transcript": "ENST00000696138.1",
"protein_id": "ENSP00000512431.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 2807,
"cds_start": 592,
"cds_end": null,
"cds_length": 8424,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 12484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Ala198Thr",
"transcript": "NM_001128147.3",
"protein_id": "NP_001121619.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 593,
"cds_start": 592,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 2889,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "c.7G>A",
"hgvs_p": "p.Ala3Thr",
"transcript": "ENST00000686189.1",
"protein_id": "ENSP00000509682.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 408,
"cds_start": 7,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 7,
"cdna_end": null,
"cdna_length": 1453,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "n.485G>A",
"hgvs_p": null,
"transcript": "ENST00000490416.3",
"protein_id": "ENSP00000491431.2",
"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": 1588,
"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": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"hgvs_c": "n.365G>A",
"hgvs_p": null,
"transcript": "ENST00000495910.6",
"protein_id": "ENSP00000463682.1",
"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": 8223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NF1",
"gene_hgnc_id": 7765,
"dbsnp": "rs1555608643",
"frequency_reference_population": 0.0000020535288,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205353,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.32861554622650146,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.361,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0892,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.799,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM1,PM2,BP4,BP6",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 2,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PM2",
"BP4",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001042492.3",
"gene_symbol": "NF1",
"hgnc_id": 7765,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.592G>A",
"hgvs_p": "p.Ala198Thr"
}
],
"clinvar_disease": " type 1,Cardiovascular phenotype,Hereditary cancer-predisposing syndrome,NF1-related disorder,Neurofibromatosis",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 B:1",
"phenotype_combined": "Neurofibromatosis, type 1|Cardiovascular phenotype;Hereditary cancer-predisposing syndrome|NF1-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}