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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: 17-2672718-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=2672718&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "PAFAH1B1",
"hgnc_id": 8574,
"hgvs_c": "c.632C>G",
"hgvs_p": "p.Ser211*",
"inheritance_mode": "AD",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_000430.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.65,
"chr": "17",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Lissencephaly due to LIS1 mutation,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6499999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5589,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 1233,
"cds_start": 632,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000430.4",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.632C>G",
"hgvs_p": "p.Ser211*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397195.10",
"protein_coding": true,
"protein_id": "NP_000421.1",
"strand": true,
"transcript": "NM_000430.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5589,
"cdna_start": 1175,
"cds_end": null,
"cds_length": 1233,
"cds_start": 632,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000397195.10",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.632C>G",
"hgvs_p": "p.Ser211*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000430.4",
"protein_coding": true,
"protein_id": "ENSP00000380378.4",
"strand": true,
"transcript": "ENST00000397195.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1361,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000572915.6",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "n.600C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000572915.6",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 428,
"aa_ref": "S",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5337,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1287,
"cds_start": 686,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000674608.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.686C>G",
"hgvs_p": "p.Ser229*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501976.1",
"strand": true,
"transcript": "ENST00000674608.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 428,
"aa_ref": "S",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3142,
"cdna_start": 1048,
"cds_end": null,
"cds_length": 1287,
"cds_start": 686,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000863852.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.686C>G",
"hgvs_p": "p.Ser229*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533911.1",
"strand": true,
"transcript": "ENST00000863852.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5384,
"cdna_start": 970,
"cds_end": null,
"cds_length": 1233,
"cds_start": 632,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000576586.6",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.632C>G",
"hgvs_p": "p.Ser211*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461087.2",
"strand": true,
"transcript": "ENST00000576586.6",
"transcript_support_level": 4
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5491,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 1233,
"cds_start": 632,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000675202.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.632C>G",
"hgvs_p": "p.Ser211*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502843.1",
"strand": true,
"transcript": "ENST00000675202.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5532,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 1233,
"cds_start": 632,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000675331.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.632C>G",
"hgvs_p": "p.Ser211*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502031.1",
"strand": true,
"transcript": "ENST00000675331.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5370,
"cdna_start": 963,
"cds_end": null,
"cds_length": 1233,
"cds_start": 632,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000675390.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.632C>G",
"hgvs_p": "p.Ser211*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501969.1",
"strand": true,
"transcript": "ENST00000675390.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5356,
"cdna_start": 949,
"cds_end": null,
"cds_length": 1233,
"cds_start": 632,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000676098.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.632C>G",
"hgvs_p": "p.Ser211*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502735.1",
"strand": true,
"transcript": "ENST00000676098.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5297,
"cdna_start": 890,
"cds_end": null,
"cds_length": 1233,
"cds_start": 632,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000676188.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.632C>G",
"hgvs_p": "p.Ser211*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502577.1",
"strand": true,
"transcript": "ENST00000676188.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1653,
"cdna_start": 941,
"cds_end": null,
"cds_length": 1233,
"cds_start": 632,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000713986.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.632C>G",
"hgvs_p": "p.Ser211*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519277.1",
"strand": true,
"transcript": "ENST00000713986.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1769,
"cdna_start": 1060,
"cds_end": null,
"cds_length": 1233,
"cds_start": 632,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000713987.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.632C>G",
"hgvs_p": "p.Ser211*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519278.1",
"strand": true,
"transcript": "ENST00000713987.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5756,
"cdna_start": 1345,
"cds_end": null,
"cds_length": 1233,
"cds_start": 632,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000863847.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.632C>G",
"hgvs_p": "p.Ser211*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533906.1",
"strand": true,
"transcript": "ENST00000863847.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5748,
"cdna_start": 1334,
"cds_end": null,
"cds_length": 1233,
"cds_start": 632,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000863848.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.632C>G",
"hgvs_p": "p.Ser211*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533907.1",
"strand": true,
"transcript": "ENST00000863848.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5663,
"cdna_start": 1251,
"cds_end": null,
"cds_length": 1233,
"cds_start": 632,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000863849.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.632C>G",
"hgvs_p": "p.Ser211*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533908.1",
"strand": true,
"transcript": "ENST00000863849.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4620,
"cdna_start": 1321,
"cds_end": null,
"cds_length": 1233,
"cds_start": 632,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000863850.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.632C>G",
"hgvs_p": "p.Ser211*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533909.1",
"strand": true,
"transcript": "ENST00000863850.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3556,
"cdna_start": 892,
"cds_end": null,
"cds_length": 1233,
"cds_start": 632,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000863851.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.632C>G",
"hgvs_p": "p.Ser211*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533910.1",
"strand": true,
"transcript": "ENST00000863851.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1924,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1233,
"cds_start": 632,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000863853.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.632C>G",
"hgvs_p": "p.Ser211*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533912.1",
"strand": true,
"transcript": "ENST00000863853.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1233,
"cds_start": 632,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000863854.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.632C>G",
"hgvs_p": "p.Ser211*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533913.1",
"strand": true,
"transcript": "ENST00000863854.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 410,
"aa_ref": "S",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5443,
"cdna_start": 1028,
"cds_end": null,
"cds_length": 1233,
"cds_start": 632,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000934916.1",
"gene_hgnc_id": 8574,
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