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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: 19-51965037-TGA-GGG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=51965037&ref=TGA&alt=GGG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF350",
"hgnc_id": 16656,
"hgvs_c": "c.1414_1416delTCAinsCCC",
"hgvs_p": "p.Ser472Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_021632.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ZNF350-AS1",
"hgnc_id": 48598,
"hgvs_c": "n.125-11354_125-11352delTGAinsGGG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000595010.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"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": "P",
"aa_end": null,
"aa_length": 532,
"aa_ref": "S",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2355,
"cdna_start": 1658,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_021632.4",
"gene_hgnc_id": 16656,
"gene_symbol": "ZNF350",
"hgvs_c": "c.1414_1416delTCAinsCCC",
"hgvs_p": "p.Ser472Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000243644.9",
"protein_coding": true,
"protein_id": "NP_067645.3",
"strand": false,
"transcript": "NM_021632.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 532,
"aa_ref": "S",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2355,
"cdna_start": 1658,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000243644.9",
"gene_hgnc_id": 16656,
"gene_symbol": "ZNF350",
"hgvs_c": "c.1414_1416delTCAinsCCC",
"hgvs_p": "p.Ser472Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021632.4",
"protein_coding": true,
"protein_id": "ENSP00000243644.3",
"strand": false,
"transcript": "ENST00000243644.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 755,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000595010.5",
"gene_hgnc_id": 48598,
"gene_symbol": "ZNF350-AS1",
"hgvs_c": "n.125-11354_125-11352delTGAinsGGG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000595010.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 555,
"aa_ref": "S",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2432,
"cdna_start": 1735,
"cds_end": null,
"cds_length": 1668,
"cds_start": 1483,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853589.1",
"gene_hgnc_id": 16656,
"gene_symbol": "ZNF350",
"hgvs_c": "c.1483_1485delTCAinsCCC",
"hgvs_p": "p.Ser495Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523648.1",
"strand": false,
"transcript": "ENST00000853589.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 532,
"aa_ref": "S",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2615,
"cdna_start": 1920,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853590.1",
"gene_hgnc_id": 16656,
"gene_symbol": "ZNF350",
"hgvs_c": "c.1414_1416delTCAinsCCC",
"hgvs_p": "p.Ser472Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523649.1",
"strand": false,
"transcript": "ENST00000853590.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 532,
"aa_ref": "S",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2411,
"cdna_start": 1721,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853591.1",
"gene_hgnc_id": 16656,
"gene_symbol": "ZNF350",
"hgvs_c": "c.1414_1416delTCAinsCCC",
"hgvs_p": "p.Ser472Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523650.1",
"strand": false,
"transcript": "ENST00000853591.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 532,
"aa_ref": "S",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2430,
"cdna_start": 1740,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853592.1",
"gene_hgnc_id": 16656,
"gene_symbol": "ZNF350",
"hgvs_c": "c.1414_1416delTCAinsCCC",
"hgvs_p": "p.Ser472Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523651.1",
"strand": false,
"transcript": "ENST00000853592.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 532,
"aa_ref": "S",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2317,
"cdna_start": 1622,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853593.1",
"gene_hgnc_id": 16656,
"gene_symbol": "ZNF350",
"hgvs_c": "c.1414_1416delTCAinsCCC",
"hgvs_p": "p.Ser472Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523652.1",
"strand": false,
"transcript": "ENST00000853593.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 532,
"aa_ref": "S",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2465,
"cdna_start": 1772,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934229.1",
"gene_hgnc_id": 16656,
"gene_symbol": "ZNF350",
"hgvs_c": "c.1414_1416delTCAinsCCC",
"hgvs_p": "p.Ser472Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604288.1",
"strand": false,
"transcript": "ENST00000934229.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 532,
"aa_ref": "S",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2409,
"cdna_start": 1715,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934230.1",
"gene_hgnc_id": 16656,
"gene_symbol": "ZNF350",
"hgvs_c": "c.1414_1416delTCAinsCCC",
"hgvs_p": "p.Ser472Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604289.1",
"strand": false,
"transcript": "ENST00000934230.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 532,
"aa_ref": "S",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2395,
"cdna_start": 1705,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970659.1",
"gene_hgnc_id": 16656,
"gene_symbol": "ZNF350",
"hgvs_c": "c.1414_1416delTCAinsCCC",
"hgvs_p": "p.Ser472Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640718.1",
"strand": false,
"transcript": "ENST00000970659.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 532,
"aa_ref": "S",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2446,
"cdna_start": 1749,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970660.1",
"gene_hgnc_id": 16656,
"gene_symbol": "ZNF350",
"hgvs_c": "c.1414_1416delTCAinsCCC",
"hgvs_p": "p.Ser472Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640719.1",
"strand": false,
"transcript": "ENST00000970660.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 532,
"aa_ref": "S",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2369,
"cdna_start": 2048,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970661.1",
"gene_hgnc_id": 16656,
"gene_symbol": "ZNF350",
"hgvs_c": "c.1414_1416delTCAinsCCC",
"hgvs_p": "p.Ser472Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640720.1",
"strand": false,
"transcript": "ENST00000970661.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 532,
"aa_ref": "S",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3461,
"cdna_start": 2485,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970662.1",
"gene_hgnc_id": 16656,
"gene_symbol": "ZNF350",
"hgvs_c": "c.1414_1416delTCAinsCCC",
"hgvs_p": "p.Ser472Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640721.1",
"strand": false,
"transcript": "ENST00000970662.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 574,
"aa_ref": "S",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2481,
"cdna_start": 1784,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1540,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017027094.2",
"gene_hgnc_id": 16656,
"gene_symbol": "ZNF350",
"hgvs_c": "c.1540_1542delTCAinsCCC",
"hgvs_p": "p.Ser514Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882583.1",
"strand": false,
"transcript": "XM_017027094.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 574,
"aa_ref": "S",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2516,
"cdna_start": 1819,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1540,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017027096.2",
"gene_hgnc_id": 16656,
"gene_symbol": "ZNF350",
"hgvs_c": "c.1540_1542delTCAinsCCC",
"hgvs_p": "p.Ser514Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882585.1",
"strand": false,
"transcript": "XM_017027096.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 574,
"aa_ref": "S",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 2032,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1540,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047439182.1",
"gene_hgnc_id": 16656,
"gene_symbol": "ZNF350",
"hgvs_c": "c.1540_1542delTCAinsCCC",
"hgvs_p": "p.Ser514Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295138.1",
"strand": false,
"transcript": "XM_047439182.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 574,
"aa_ref": "S",
"aa_start": 514,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2772,
"cdna_start": 2075,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1540,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047439183.1",
"gene_hgnc_id": 16656,
"gene_symbol": "ZNF350",
"hgvs_c": "c.1540_1542delTCAinsCCC",
"hgvs_p": "p.Ser514Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295139.1",
"strand": false,
"transcript": "XM_047439183.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 532,
"aa_ref": "S",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2603,
"cdna_start": 1906,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017027098.2",
"gene_hgnc_id": 16656,
"gene_symbol": "ZNF350",
"hgvs_c": "c.1414_1416delTCAinsCCC",
"hgvs_p": "p.Ser472Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882587.1",
"strand": false,
"transcript": "XM_017027098.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 532,
"aa_ref": "S",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2646,
"cdna_start": 1949,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017027099.2",
"gene_hgnc_id": 16656,
"gene_symbol": "ZNF350",
"hgvs_c": "c.1414_1416delTCAinsCCC",
"hgvs_p": "p.Ser472Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882588.1",
"strand": false,
"transcript": "XM_017027099.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 532,
"aa_ref": "S",
"aa_start": 472,
"biotype": "protein_coding",
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