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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: 9-99137883-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=99137883&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TGFBR1",
"hgnc_id": 11772,
"hgvs_c": "c.611C>T",
"hgvs_p": "p.Thr204Ile",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 9,
"score": 9,
"transcript": "NM_001306210.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Strong,PP5",
"acmg_score": 9,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9999,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.6,
"chr": "9",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Loeys-Dietz syndrome 1",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9854625463485718,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 503,
"aa_ref": "T",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6492,
"cdna_start": 692,
"cds_end": null,
"cds_length": 1512,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_004612.4",
"gene_hgnc_id": 11772,
"gene_symbol": "TGFBR1",
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Thr200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374994.9",
"protein_coding": true,
"protein_id": "NP_004603.1",
"strand": true,
"transcript": "NM_004612.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 503,
"aa_ref": "T",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6492,
"cdna_start": 692,
"cds_end": null,
"cds_length": 1512,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000374994.9",
"gene_hgnc_id": 11772,
"gene_symbol": "TGFBR1",
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Thr200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004612.4",
"protein_coding": true,
"protein_id": "ENSP00000364133.4",
"strand": true,
"transcript": "ENST00000374994.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 507,
"aa_ref": "T",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5933,
"cdna_start": 667,
"cds_end": null,
"cds_length": 1524,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000552516.5",
"gene_hgnc_id": 11772,
"gene_symbol": "TGFBR1",
"hgvs_c": "c.611C>T",
"hgvs_p": "p.Thr204Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447297.1",
"strand": true,
"transcript": "ENST00000552516.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 426,
"aa_ref": "T",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5720,
"cdna_start": 463,
"cds_end": null,
"cds_length": 1281,
"cds_start": 368,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000374990.6",
"gene_hgnc_id": 11772,
"gene_symbol": "TGFBR1",
"hgvs_c": "c.368C>T",
"hgvs_p": "p.Thr123Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364129.2",
"strand": true,
"transcript": "ENST00000374990.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 507,
"aa_ref": "T",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6504,
"cdna_start": 704,
"cds_end": null,
"cds_length": 1524,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001306210.2",
"gene_hgnc_id": 11772,
"gene_symbol": "TGFBR1",
"hgvs_c": "c.611C>T",
"hgvs_p": "p.Thr204Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001293139.1",
"strand": true,
"transcript": "NM_001306210.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 502,
"aa_ref": "T",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6004,
"cdna_start": 707,
"cds_end": null,
"cds_length": 1509,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000714345.1",
"gene_hgnc_id": 11772,
"gene_symbol": "TGFBR1",
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Thr200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519616.1",
"strand": true,
"transcript": "ENST00000714345.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 477,
"aa_ref": "T",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5859,
"cdna_start": 679,
"cds_end": null,
"cds_length": 1434,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000714348.1",
"gene_hgnc_id": 11772,
"gene_symbol": "TGFBR1",
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Thr200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519619.1",
"strand": true,
"transcript": "ENST00000714348.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 451,
"aa_ref": "T",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6336,
"cdna_start": 704,
"cds_end": null,
"cds_length": 1356,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001407416.1",
"gene_hgnc_id": 11772,
"gene_symbol": "TGFBR1",
"hgvs_c": "c.611C>T",
"hgvs_p": "p.Thr204Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394345.1",
"strand": true,
"transcript": "NM_001407416.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 447,
"aa_ref": "T",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6324,
"cdna_start": 692,
"cds_end": null,
"cds_length": 1344,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001407417.1",
"gene_hgnc_id": 11772,
"gene_symbol": "TGFBR1",
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Thr200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394346.1",
"strand": true,
"transcript": "NM_001407417.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 447,
"aa_ref": "T",
"aa_start": 200,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5774,
"cdna_start": 688,
"cds_end": null,
"cds_length": 1344,
"cds_start": 599,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000971225.1",
"gene_hgnc_id": 11772,
"gene_symbol": "TGFBR1",
"hgvs_c": "c.599C>T",
"hgvs_p": "p.Thr200Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641284.1",
"strand": true,
"transcript": "ENST00000971225.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 438,
"aa_ref": "T",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6409,
"cdna_start": 609,
"cds_end": null,
"cds_length": 1317,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001407418.1",
"gene_hgnc_id": 11772,
"gene_symbol": "TGFBR1",
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Thr135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394347.1",
"strand": true,
"transcript": "NM_001407418.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 438,
"aa_ref": "T",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6357,
"cdna_start": 557,
"cds_end": null,
"cds_length": 1317,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001407419.1",
"gene_hgnc_id": 11772,
"gene_symbol": "TGFBR1",
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Thr135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394348.1",
"strand": true,
"transcript": "NM_001407419.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 438,
"aa_ref": "T",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6640,
"cdna_start": 840,
"cds_end": null,
"cds_length": 1317,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001407420.1",
"gene_hgnc_id": 11772,
"gene_symbol": "TGFBR1",
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Thr135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394349.1",
"strand": true,
"transcript": "NM_001407420.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 438,
"aa_ref": "T",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6609,
"cdna_start": 809,
"cds_end": null,
"cds_length": 1317,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001407422.1",
"gene_hgnc_id": 11772,
"gene_symbol": "TGFBR1",
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Thr135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394351.1",
"strand": true,
"transcript": "NM_001407422.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 438,
"aa_ref": "T",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6351,
"cdna_start": 551,
"cds_end": null,
"cds_length": 1317,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000552573.7",
"gene_hgnc_id": 11772,
"gene_symbol": "TGFBR1",
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Thr135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447182.3",
"strand": true,
"transcript": "ENST00000552573.7",
"transcript_support_level": 4
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 438,
"aa_ref": "T",
"aa_start": 135,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3562,
"cdna_start": 603,
"cds_end": null,
"cds_length": 1317,
"cds_start": 404,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000698941.1",
"gene_hgnc_id": 11772,
"gene_symbol": "TGFBR1",
"hgvs_c": "c.404C>T",
"hgvs_p": "p.Thr135Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514048.1",
"strand": true,
"transcript": "ENST00000698941.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 434,
"aa_ref": "T",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6397,
"cdna_start": 597,
"cds_end": null,
"cds_length": 1305,
"cds_start": 392,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001407423.1",
"gene_hgnc_id": 11772,
"gene_symbol": "TGFBR1",
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Thr131Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394352.1",
"strand": true,
"transcript": "NM_001407423.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 434,
"aa_ref": "T",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6357,
"cdna_start": 557,
"cds_end": null,
"cds_length": 1305,
"cds_start": 392,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001407424.1",
"gene_hgnc_id": 11772,
"gene_symbol": "TGFBR1",
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Thr131Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394353.1",
"strand": true,
"transcript": "NM_001407424.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 434,
"aa_ref": "T",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6373,
"cdna_start": 573,
"cds_end": null,
"cds_length": 1305,
"cds_start": 392,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001407425.1",
"gene_hgnc_id": 11772,
"gene_symbol": "TGFBR1",
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Thr131Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394354.1",
"strand": true,
"transcript": "NM_001407425.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 434,
"aa_ref": "T",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6597,
"cdna_start": 797,
"cds_end": null,
"cds_length": 1305,
"cds_start": 392,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001407426.1",
"gene_hgnc_id": 11772,
"gene_symbol": "TGFBR1",
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Thr131Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001394355.1",
"strand": true,
"transcript": "NM_001407426.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 434,
"aa_ref": "T",
"aa_start": 131,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6520,
"cdna_start": 720,
"cds_end": null,
"cds_length": 1305,
"cds_start": 392,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001407427.1",
"gene_hgnc_id": 11772,
"gene_symbol": "TGFBR1",
"hgvs_c": "c.392C>T",
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