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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: 16-31473920-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=31473920&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TGFB1I1",
"hgnc_id": 11767,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Leu90Phe",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001042454.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": 0.7866,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6576730012893677,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 461,
"aa_ref": "L",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1805,
"cdna_start": 305,
"cds_end": null,
"cds_length": 1386,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001042454.3",
"gene_hgnc_id": 11767,
"gene_symbol": "TGFB1I1",
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Leu90Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394863.8",
"protein_coding": true,
"protein_id": "NP_001035919.1",
"strand": true,
"transcript": "NM_001042454.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 461,
"aa_ref": "L",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1805,
"cdna_start": 305,
"cds_end": null,
"cds_length": 1386,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000394863.8",
"gene_hgnc_id": 11767,
"gene_symbol": "TGFB1I1",
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Leu90Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001042454.3",
"protein_coding": true,
"protein_id": "ENSP00000378332.3",
"strand": true,
"transcript": "ENST00000394863.8",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 444,
"aa_ref": "L",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1773,
"cdna_start": 271,
"cds_end": null,
"cds_length": 1335,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000361773.7",
"gene_hgnc_id": 11767,
"gene_symbol": "TGFB1I1",
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Leu73Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355117.3",
"strand": true,
"transcript": "ENST00000361773.7",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 444,
"aa_ref": "L",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1803,
"cdna_start": 301,
"cds_end": null,
"cds_length": 1335,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000394858.6",
"gene_hgnc_id": 11767,
"gene_symbol": "TGFB1I1",
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Leu73Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378327.2",
"strand": true,
"transcript": "ENST00000394858.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 444,
"aa_ref": "L",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1770,
"cdna_start": 270,
"cds_end": null,
"cds_length": 1335,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000567607.5",
"gene_hgnc_id": 11767,
"gene_symbol": "TGFB1I1",
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Leu73Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457586.1",
"strand": true,
"transcript": "ENST00000567607.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 460,
"aa_ref": "L",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1895,
"cdna_start": 398,
"cds_end": null,
"cds_length": 1383,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000902093.1",
"gene_hgnc_id": 11767,
"gene_symbol": "TGFB1I1",
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Leu90Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572152.1",
"strand": true,
"transcript": "ENST00000902093.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 458,
"aa_ref": "L",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": 302,
"cds_end": null,
"cds_length": 1377,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000965084.1",
"gene_hgnc_id": 11767,
"gene_symbol": "TGFB1I1",
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Leu90Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635143.1",
"strand": true,
"transcript": "ENST00000965084.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 444,
"aa_ref": "L",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1773,
"cdna_start": 271,
"cds_end": null,
"cds_length": 1335,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001164719.1",
"gene_hgnc_id": 11767,
"gene_symbol": "TGFB1I1",
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Leu73Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001158191.1",
"strand": true,
"transcript": "NM_001164719.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 444,
"aa_ref": "L",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1801,
"cdna_start": 301,
"cds_end": null,
"cds_length": 1335,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_015927.5",
"gene_hgnc_id": 11767,
"gene_symbol": "TGFB1I1",
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Leu73Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_057011.2",
"strand": true,
"transcript": "NM_015927.5",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 439,
"aa_ref": "L",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1752,
"cdna_start": 252,
"cds_end": null,
"cds_length": 1320,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000965083.1",
"gene_hgnc_id": 11767,
"gene_symbol": "TGFB1I1",
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Leu68Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635142.1",
"strand": true,
"transcript": "ENST00000965083.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 407,
"aa_ref": "L",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1639,
"cdna_start": 302,
"cds_end": null,
"cds_length": 1224,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000965085.1",
"gene_hgnc_id": 11767,
"gene_symbol": "TGFB1I1",
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Leu90Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635144.1",
"strand": true,
"transcript": "ENST00000965085.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 396,
"aa_ref": "L",
"aa_start": 90,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1610,
"cdna_start": 305,
"cds_end": null,
"cds_length": 1191,
"cds_start": 268,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000902094.1",
"gene_hgnc_id": 11767,
"gene_symbol": "TGFB1I1",
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Leu90Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572153.1",
"strand": true,
"transcript": "ENST00000902094.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 215,
"aa_ref": "L",
"aa_start": 68,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 684,
"cdna_start": 236,
"cds_end": null,
"cds_length": 650,
"cds_start": 202,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000565360.5",
"gene_hgnc_id": 11767,
"gene_symbol": "TGFB1I1",
"hgvs_c": "c.202C>T",
"hgvs_p": "p.Leu68Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455709.1",
"strand": true,
"transcript": "ENST00000565360.5",
"transcript_support_level": 3
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 164,
"aa_ref": "L",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 573,
"cdna_start": 294,
"cds_end": null,
"cds_length": 496,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000565454.5",
"gene_hgnc_id": 11767,
"gene_symbol": "TGFB1I1",
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Leu73Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456783.1",
"strand": true,
"transcript": "ENST00000565454.5",
"transcript_support_level": 4
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 88,
"aa_ref": "L",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 668,
"cdna_start": 616,
"cds_end": null,
"cds_length": 269,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000562566.5",
"gene_hgnc_id": 11767,
"gene_symbol": "TGFB1I1",
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Leu73Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456482.1",
"strand": true,
"transcript": "ENST00000562566.5",
"transcript_support_level": 4
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 444,
"aa_ref": "L",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1804,
"cdna_start": 302,
"cds_end": null,
"cds_length": 1335,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_024450412.2",
"gene_hgnc_id": 11767,
"gene_symbol": "TGFB1I1",
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Leu73Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024306180.1",
"strand": true,
"transcript": "XM_024450412.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 266,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2002,
"cdna_start": null,
"cds_end": null,
"cds_length": 801,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000965082.1",
"gene_hgnc_id": 11767,
"gene_symbol": "TGFB1I1",
"hgvs_c": "c.129+364C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635141.1",
"strand": true,
"transcript": "ENST00000965082.1",
"transcript_support_level": null
},
{
"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": 577,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000561785.5",
"gene_hgnc_id": 11767,
"gene_symbol": "TGFB1I1",
"hgvs_c": "n.402C>T",
"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": "ENST00000561785.5",
"transcript_support_level": 4
},
{
"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": 466,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000562165.5",
"gene_hgnc_id": 11767,
"gene_symbol": "TGFB1I1",
"hgvs_c": "n.286C>T",
"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": "ENST00000562165.5",
"transcript_support_level": 4
},
{
"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": 4973,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000564176.5",
"gene_hgnc_id": 11767,
"gene_symbol": "TGFB1I1",
"hgvs_c": "n.1625C>T",
"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": "ENST00000564176.5",
"transcript_support_level": 2
},
{
"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": 1616,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000564804.1",
"gene_hgnc_id": 11767,
"gene_symbol": "TGFB1I1",
"hgvs_c": "n.217C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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