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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: 17-2676604-CTC-TTA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=2676604&ref=CTC&alt=TTA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PAFAH1B1",
"hgnc_id": 8574,
"hgvs_c": "c.989_991delCTCinsTTA",
"hgvs_p": "p.CysLeu330PheIle",
"inheritance_mode": "AD",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000397195.10",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TTA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "FI",
"aa_end": null,
"aa_length": 410,
"aa_ref": "CL",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5589,
"cdna_start": 1532,
"cds_end": null,
"cds_length": 1233,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397195.10",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.989_991delCTCinsTTA",
"hgvs_p": "p.CysLeu330PheIle",
"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": "L",
"aa_end": null,
"aa_length": 410,
"aa_ref": "L",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5589,
"cdna_start": 1543,
"cds_end": null,
"cds_length": 1233,
"cds_start": 1000,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000430.4",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1000_1002delCTCinsTTA",
"hgvs_p": "p.335",
"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": 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": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000572915.6",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "n.676+2497_676+2499delCTCinsTTA",
"hgvs_p": null,
"intron_rank": 6,
"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": "FI",
"aa_end": null,
"aa_length": 428,
"aa_ref": "CL",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5337,
"cdna_start": 1287,
"cds_end": null,
"cds_length": 1287,
"cds_start": 1043,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000674608.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1043_1045delCTCinsTTA",
"hgvs_p": "p.CysLeu348PheIle",
"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": "FI",
"aa_end": null,
"aa_length": 428,
"aa_ref": "CL",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3142,
"cdna_start": 1405,
"cds_end": null,
"cds_length": 1287,
"cds_start": 1043,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863852.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.1043_1045delCTCinsTTA",
"hgvs_p": "p.CysLeu348PheIle",
"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": "FI",
"aa_end": null,
"aa_length": 410,
"aa_ref": "CL",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5384,
"cdna_start": 1327,
"cds_end": null,
"cds_length": 1233,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000576586.6",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.989_991delCTCinsTTA",
"hgvs_p": "p.CysLeu330PheIle",
"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": "FI",
"aa_end": null,
"aa_length": 410,
"aa_ref": "CL",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5491,
"cdna_start": 1441,
"cds_end": null,
"cds_length": 1233,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675202.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.989_991delCTCinsTTA",
"hgvs_p": "p.CysLeu330PheIle",
"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": "FI",
"aa_end": null,
"aa_length": 410,
"aa_ref": "CL",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5532,
"cdna_start": 1482,
"cds_end": null,
"cds_length": 1233,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675331.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.989_991delCTCinsTTA",
"hgvs_p": "p.CysLeu330PheIle",
"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": "FI",
"aa_end": null,
"aa_length": 410,
"aa_ref": "CL",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5370,
"cdna_start": 1320,
"cds_end": null,
"cds_length": 1233,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675390.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.989_991delCTCinsTTA",
"hgvs_p": "p.CysLeu330PheIle",
"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": "FI",
"aa_end": null,
"aa_length": 410,
"aa_ref": "CL",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5356,
"cdna_start": 1306,
"cds_end": null,
"cds_length": 1233,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676098.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.989_991delCTCinsTTA",
"hgvs_p": "p.CysLeu330PheIle",
"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": "FI",
"aa_end": null,
"aa_length": 410,
"aa_ref": "CL",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5297,
"cdna_start": 1247,
"cds_end": null,
"cds_length": 1233,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676188.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.989_991delCTCinsTTA",
"hgvs_p": "p.CysLeu330PheIle",
"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": "FI",
"aa_end": null,
"aa_length": 410,
"aa_ref": "CL",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1653,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 1233,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713986.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.989_991delCTCinsTTA",
"hgvs_p": "p.CysLeu330PheIle",
"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": "FI",
"aa_end": null,
"aa_length": 410,
"aa_ref": "CL",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1769,
"cdna_start": 1417,
"cds_end": null,
"cds_length": 1233,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713987.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.989_991delCTCinsTTA",
"hgvs_p": "p.CysLeu330PheIle",
"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": "FI",
"aa_end": null,
"aa_length": 410,
"aa_ref": "CL",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5756,
"cdna_start": 1702,
"cds_end": null,
"cds_length": 1233,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863847.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.989_991delCTCinsTTA",
"hgvs_p": "p.CysLeu330PheIle",
"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": "FI",
"aa_end": null,
"aa_length": 410,
"aa_ref": "CL",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5748,
"cdna_start": 1691,
"cds_end": null,
"cds_length": 1233,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863848.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.989_991delCTCinsTTA",
"hgvs_p": "p.CysLeu330PheIle",
"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": "FI",
"aa_end": null,
"aa_length": 410,
"aa_ref": "CL",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5663,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 1233,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863849.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.989_991delCTCinsTTA",
"hgvs_p": "p.CysLeu330PheIle",
"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": "FI",
"aa_end": null,
"aa_length": 410,
"aa_ref": "CL",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4620,
"cdna_start": 1678,
"cds_end": null,
"cds_length": 1233,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863850.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.989_991delCTCinsTTA",
"hgvs_p": "p.CysLeu330PheIle",
"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": "FI",
"aa_end": null,
"aa_length": 410,
"aa_ref": "CL",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3556,
"cdna_start": 1249,
"cds_end": null,
"cds_length": 1233,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863851.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.989_991delCTCinsTTA",
"hgvs_p": "p.CysLeu330PheIle",
"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": "FI",
"aa_end": null,
"aa_length": 410,
"aa_ref": "CL",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1924,
"cdna_start": 1572,
"cds_end": null,
"cds_length": 1233,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863853.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.989_991delCTCinsTTA",
"hgvs_p": "p.CysLeu330PheIle",
"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": "FI",
"aa_end": null,
"aa_length": 410,
"aa_ref": "CL",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 1371,
"cds_end": null,
"cds_length": 1233,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863854.1",
"gene_hgnc_id": 8574,
"gene_symbol": "PAFAH1B1",
"hgvs_c": "c.989_991delCTCinsTTA",
"hgvs_p": "p.CysLeu330PheIle",
"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": "FI",
"aa_end": null,
"aa_length": 410,
"aa_ref": "CL",
"aa_start": 330,
"biotype": "protein_coding",
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