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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: 5-178210162-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=178210162&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HNRNPAB",
"hgnc_id": 5034,
"hgvs_c": "c.818G>T",
"hgvs_p": "p.Gly273Val",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_031266.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PHYKPL",
"hgnc_id": 28249,
"hgvs_c": "c.*32-1247C>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_153373.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.656,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.08,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6615830063819885,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 332,
"aa_ref": "G",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1770,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 999,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_031266.3",
"gene_hgnc_id": 5034,
"gene_symbol": "HNRNPAB",
"hgvs_c": "c.818G>T",
"hgvs_p": "p.Gly273Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000358344.8",
"protein_coding": true,
"protein_id": "NP_112556.2",
"strand": true,
"transcript": "NM_031266.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 332,
"aa_ref": "G",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1770,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 999,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000358344.8",
"gene_hgnc_id": 5034,
"gene_symbol": "HNRNPAB",
"hgvs_c": "c.818G>T",
"hgvs_p": "p.Gly273Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031266.3",
"protein_coding": true,
"protein_id": "ENSP00000351108.3",
"strand": true,
"transcript": "ENST00000358344.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 332,
"aa_ref": "G",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1785,
"cdna_start": 1085,
"cds_end": null,
"cds_length": 999,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000504898.5",
"gene_hgnc_id": 5034,
"gene_symbol": "HNRNPAB",
"hgvs_c": "c.818G>T",
"hgvs_p": "p.Gly273Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425031.1",
"strand": true,
"transcript": "ENST00000504898.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 450,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2081,
"cdna_start": null,
"cds_end": null,
"cds_length": 1353,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_153373.4",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "c.*32-1247C>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000308158.10",
"protein_coding": true,
"protein_id": "NP_699204.1",
"strand": false,
"transcript": "NM_153373.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 450,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2081,
"cdna_start": null,
"cds_end": null,
"cds_length": 1353,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000308158.10",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "c.*32-1247C>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_153373.4",
"protein_coding": true,
"protein_id": "ENSP00000310978.5",
"strand": false,
"transcript": "ENST00000308158.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 285,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1602,
"cdna_start": null,
"cds_end": null,
"cds_length": 858,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000355836.9",
"gene_hgnc_id": 5034,
"gene_symbol": "HNRNPAB",
"hgvs_c": "c.788-391G>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348093.5",
"strand": true,
"transcript": "ENST00000355836.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 285,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": null,
"cds_end": null,
"cds_length": 858,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000506259.5",
"gene_hgnc_id": 5034,
"gene_symbol": "HNRNPAB",
"hgvs_c": "c.788-391G>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427465.1",
"strand": true,
"transcript": "ENST00000506259.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1539,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000474052.5",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "n.*773-1247C>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000423806.1",
"strand": false,
"transcript": "ENST00000474052.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000494126.6",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "n.2026-1247C>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000494126.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 332,
"aa_ref": "G",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1844,
"cdna_start": 1123,
"cds_end": null,
"cds_length": 999,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001437957.1",
"gene_hgnc_id": 5034,
"gene_symbol": "HNRNPAB",
"hgvs_c": "c.818G>T",
"hgvs_p": "p.Gly273Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424886.1",
"strand": true,
"transcript": "NM_001437957.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 332,
"aa_ref": "G",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1796,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 999,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000885118.1",
"gene_hgnc_id": 5034,
"gene_symbol": "HNRNPAB",
"hgvs_c": "c.818G>T",
"hgvs_p": "p.Gly273Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555177.1",
"strand": true,
"transcript": "ENST00000885118.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 332,
"aa_ref": "G",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1734,
"cdna_start": 1013,
"cds_end": null,
"cds_length": 999,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000885120.1",
"gene_hgnc_id": 5034,
"gene_symbol": "HNRNPAB",
"hgvs_c": "c.818G>T",
"hgvs_p": "p.Gly273Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555179.1",
"strand": true,
"transcript": "ENST00000885120.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 332,
"aa_ref": "G",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1841,
"cdna_start": 1100,
"cds_end": null,
"cds_length": 999,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916337.1",
"gene_hgnc_id": 5034,
"gene_symbol": "HNRNPAB",
"hgvs_c": "c.818G>T",
"hgvs_p": "p.Gly273Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586396.1",
"strand": true,
"transcript": "ENST00000916337.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 332,
"aa_ref": "G",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1605,
"cdna_start": 884,
"cds_end": null,
"cds_length": 999,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916341.1",
"gene_hgnc_id": 5034,
"gene_symbol": "HNRNPAB",
"hgvs_c": "c.818G>T",
"hgvs_p": "p.Gly273Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586400.1",
"strand": true,
"transcript": "ENST00000916341.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 332,
"aa_ref": "G",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1607,
"cdna_start": 884,
"cds_end": null,
"cds_length": 999,
"cds_start": 818,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916343.1",
"gene_hgnc_id": 5034,
"gene_symbol": "HNRNPAB",
"hgvs_c": "c.818G>T",
"hgvs_p": "p.Gly273Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586402.1",
"strand": true,
"transcript": "ENST00000916343.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 330,
"aa_ref": "G",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1783,
"cdna_start": 1044,
"cds_end": null,
"cds_length": 993,
"cds_start": 812,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000916339.1",
"gene_hgnc_id": 5034,
"gene_symbol": "HNRNPAB",
"hgvs_c": "c.812G>T",
"hgvs_p": "p.Gly271Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586398.1",
"strand": true,
"transcript": "ENST00000916339.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 327,
"aa_ref": "G",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1747,
"cdna_start": 1034,
"cds_end": null,
"cds_length": 984,
"cds_start": 803,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000506339.5",
"gene_hgnc_id": 5034,
"gene_symbol": "HNRNPAB",
"hgvs_c": "c.803G>T",
"hgvs_p": "p.Gly268Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422501.1",
"strand": true,
"transcript": "ENST00000506339.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 321,
"aa_ref": "G",
"aa_start": 262,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1753,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 966,
"cds_start": 785,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000885119.1",
"gene_hgnc_id": 5034,
"gene_symbol": "HNRNPAB",
"hgvs_c": "c.785G>T",
"hgvs_p": "p.Gly262Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555178.1",
"strand": true,
"transcript": "ENST00000885119.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 187,
"aa_ref": "G",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1601,
"cdna_start": 880,
"cds_end": null,
"cds_length": 564,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001437960.1",
"gene_hgnc_id": 5034,
"gene_symbol": "HNRNPAB",
"hgvs_c": "c.383G>T",
"hgvs_p": "p.Gly128Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424889.1",
"strand": true,
"transcript": "NM_001437960.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 109,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3908,
"cdna_start": null,
"cds_end": null,
"cds_length": 330,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000916242.1",
"gene_hgnc_id": 28249,
"gene_symbol": "PHYKPL",
"hgvs_c": "c.*1759C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586301.1",
"strand": false,
"transcript": "ENST00000916242.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 502,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1920,
"cdna_start": null,
"cds_end": null,
"cds_length": 1509,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
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