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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: 19-32833195-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=32833195&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PP5_Very_Strong"
],
"effects": [
"stop_gained"
],
"gene_symbol": "SLC7A9",
"hgnc_id": 11067,
"hgvs_c": "c.1353C>A",
"hgvs_p": "p.Tyr451*",
"inheritance_mode": "AR,SD,AD",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_014270.5",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "ENSG00000267555",
"hgnc_id": null,
"hgvs_c": "n.*27G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 14,
"score": 14,
"transcript": "ENST00000590069.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Moderate,PP5_Very_Strong",
"acmg_score": 10,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.6,
"chr": "19",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Cystinuria,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6000000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 487,
"aa_ref": "Y",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1766,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1353,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_014270.5",
"gene_hgnc_id": 11067,
"gene_symbol": "SLC7A9",
"hgvs_c": "c.1353C>A",
"hgvs_p": "p.Tyr451*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000023064.9",
"protein_coding": true,
"protein_id": "NP_055085.1",
"strand": false,
"transcript": "NM_014270.5",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 487,
"aa_ref": "Y",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1766,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1353,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000023064.9",
"gene_hgnc_id": 11067,
"gene_symbol": "SLC7A9",
"hgvs_c": "c.1353C>A",
"hgvs_p": "p.Tyr451*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014270.5",
"protein_coding": true,
"protein_id": "ENSP00000023064.3",
"strand": false,
"transcript": "ENST00000023064.9",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 487,
"aa_ref": "Y",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1568,
"cdna_start": 1457,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1353,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000587772.1",
"gene_hgnc_id": 11067,
"gene_symbol": "SLC7A9",
"hgvs_c": "c.1353C>A",
"hgvs_p": "p.Tyr451*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468439.1",
"strand": false,
"transcript": "ENST00000587772.1",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 487,
"aa_ref": "Y",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1752,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1353,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000590341.5",
"gene_hgnc_id": 11067,
"gene_symbol": "SLC7A9",
"hgvs_c": "c.1353C>A",
"hgvs_p": "p.Tyr451*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464822.1",
"strand": false,
"transcript": "ENST00000590341.5",
"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": 1030,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000592232.5",
"gene_hgnc_id": 11067,
"gene_symbol": "SLC7A9",
"hgvs_c": "n.*762C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000465563.1",
"strand": false,
"transcript": "ENST00000592232.5",
"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": 1030,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000592232.5",
"gene_hgnc_id": 11067,
"gene_symbol": "SLC7A9",
"hgvs_c": "n.*762C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000465563.1",
"strand": false,
"transcript": "ENST00000592232.5",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 487,
"aa_ref": "Y",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1680,
"cdna_start": 1460,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1353,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001126335.2",
"gene_hgnc_id": 11067,
"gene_symbol": "SLC7A9",
"hgvs_c": "c.1353C>A",
"hgvs_p": "p.Tyr451*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001119807.1",
"strand": false,
"transcript": "NM_001126335.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 487,
"aa_ref": "Y",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1775,
"cdna_start": 1555,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1353,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001243036.2",
"gene_hgnc_id": 11067,
"gene_symbol": "SLC7A9",
"hgvs_c": "c.1353C>A",
"hgvs_p": "p.Tyr451*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001229965.1",
"strand": false,
"transcript": "NM_001243036.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 487,
"aa_ref": "Y",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1730,
"cdna_start": 1507,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1353,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000879205.1",
"gene_hgnc_id": 11067,
"gene_symbol": "SLC7A9",
"hgvs_c": "c.1353C>A",
"hgvs_p": "p.Tyr451*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549264.1",
"strand": false,
"transcript": "ENST00000879205.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 487,
"aa_ref": "Y",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1790,
"cdna_start": 1573,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1353,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000879206.1",
"gene_hgnc_id": 11067,
"gene_symbol": "SLC7A9",
"hgvs_c": "c.1353C>A",
"hgvs_p": "p.Tyr451*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549265.1",
"strand": false,
"transcript": "ENST00000879206.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 487,
"aa_ref": "Y",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1709,
"cdna_start": 1493,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1353,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000879207.1",
"gene_hgnc_id": 11067,
"gene_symbol": "SLC7A9",
"hgvs_c": "c.1353C>A",
"hgvs_p": "p.Tyr451*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549266.1",
"strand": false,
"transcript": "ENST00000879207.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 487,
"aa_ref": "Y",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 1565,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1353,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000879208.1",
"gene_hgnc_id": 11067,
"gene_symbol": "SLC7A9",
"hgvs_c": "c.1353C>A",
"hgvs_p": "p.Tyr451*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549267.1",
"strand": false,
"transcript": "ENST00000879208.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 434,
"aa_ref": "Y",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1514,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 1305,
"cds_start": 1194,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000879211.1",
"gene_hgnc_id": 11067,
"gene_symbol": "SLC7A9",
"hgvs_c": "c.1194C>A",
"hgvs_p": "p.Tyr398*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549270.1",
"strand": false,
"transcript": "ENST00000879211.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 420,
"aa_ref": "Y",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1496,
"cdna_start": 1281,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1152,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000879209.1",
"gene_hgnc_id": 11067,
"gene_symbol": "SLC7A9",
"hgvs_c": "c.1152C>A",
"hgvs_p": "p.Tyr384*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549268.1",
"strand": false,
"transcript": "ENST00000879209.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 420,
"aa_ref": "Y",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1478,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1263,
"cds_start": 1152,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000879210.1",
"gene_hgnc_id": 11067,
"gene_symbol": "SLC7A9",
"hgvs_c": "c.1152C>A",
"hgvs_p": "p.Tyr384*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549269.1",
"strand": false,
"transcript": "ENST00000879210.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 487,
"aa_ref": "Y",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1689,
"cdna_start": 1469,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1353,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_011526402.4",
"gene_hgnc_id": 11067,
"gene_symbol": "SLC7A9",
"hgvs_c": "c.1353C>A",
"hgvs_p": "p.Tyr451*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524704.1",
"strand": false,
"transcript": "XM_011526402.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 399,
"aa_ref": "Y",
"aa_start": 363,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1426,
"cdna_start": 1206,
"cds_end": null,
"cds_length": 1200,
"cds_start": 1089,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017026230.1",
"gene_hgnc_id": 11067,
"gene_symbol": "SLC7A9",
"hgvs_c": "c.1089C>A",
"hgvs_p": "p.Tyr363*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016881719.1",
"strand": false,
"transcript": "XM_017026230.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 260,
"aa_ref": "Y",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 993,
"cdna_start": 773,
"cds_end": null,
"cds_length": 783,
"cds_start": 672,
"consequences": [
"stop_gained"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047438117.1",
"gene_hgnc_id": 11067,
"gene_symbol": "SLC7A9",
"hgvs_c": "c.672C>A",
"hgvs_p": "p.Tyr224*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294073.1",
"strand": false,
"transcript": "XM_047438117.1",
"transcript_support_level": null
},
{
"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": 1998,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000590465.5",
"gene_hgnc_id": 11067,
"gene_symbol": "SLC7A9",
"hgvs_c": "n.*1500C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000468076.1",
"strand": false,
"transcript": "ENST00000590465.5",
"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": 1998,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000590465.5",
"gene_hgnc_id": 11067,
"gene_symbol": "SLC7A9",
"hgvs_c": "n.*1500C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000468076.1",
"strand": false,
"transcript": "ENST00000590465.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
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]
}