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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: 5-150376525-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150376525&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TCOF1",
"hgnc_id": 11654,
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.Pro749Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001371623.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 2937,
"alphamissense_prediction": null,
"alphamissense_score": 0.0936,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "5",
"clinvar_classification": "Benign",
"clinvar_disease": "Treacher Collins syndrome 1,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.003214925527572632,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1489,
"aa_ref": "P",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5026,
"cdna_start": 2295,
"cds_end": null,
"cds_length": 4470,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001371623.1",
"gene_hgnc_id": 11654,
"gene_symbol": "TCOF1",
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.Pro749Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000643257.2",
"protein_coding": true,
"protein_id": "NP_001358552.1",
"strand": true,
"transcript": "NM_001371623.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1489,
"aa_ref": "P",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5026,
"cdna_start": 2295,
"cds_end": null,
"cds_length": 4470,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000643257.2",
"gene_hgnc_id": 11654,
"gene_symbol": "TCOF1",
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.Pro749Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001371623.1",
"protein_coding": true,
"protein_id": "ENSP00000493815.1",
"strand": true,
"transcript": "ENST00000643257.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1488,
"aa_ref": "P",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4467,
"cdna_start": 2245,
"cds_end": null,
"cds_length": 4467,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000504761.6",
"gene_hgnc_id": 11654,
"gene_symbol": "TCOF1",
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.Pro749Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421655.2",
"strand": true,
"transcript": "ENST00000504761.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1411,
"aa_ref": "P",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4832,
"cdna_start": 2089,
"cds_end": null,
"cds_length": 4236,
"cds_start": 2014,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000323668.11",
"gene_hgnc_id": 11654,
"gene_symbol": "TCOF1",
"hgvs_c": "c.2014C>T",
"hgvs_p": "p.Pro672Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000325223.6",
"strand": true,
"transcript": "ENST00000323668.11",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 958,
"aa_ref": "P",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3400,
"cdna_start": 2274,
"cds_end": null,
"cds_length": 2877,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000394269.7",
"gene_hgnc_id": 11654,
"gene_symbol": "TCOF1",
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.Pro749Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377811.3",
"strand": true,
"transcript": "ENST00000394269.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1558,
"aa_ref": "P",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5217,
"cdna_start": 2279,
"cds_end": null,
"cds_length": 4677,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000930571.1",
"gene_hgnc_id": 11654,
"gene_symbol": "TCOF1",
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.Pro749Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600630.1",
"strand": true,
"transcript": "ENST00000930571.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1525,
"aa_ref": "P",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5135,
"cdna_start": 2295,
"cds_end": null,
"cds_length": 4578,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000930555.1",
"gene_hgnc_id": 11654,
"gene_symbol": "TCOF1",
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.Pro749Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600614.1",
"strand": true,
"transcript": "ENST00000930555.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1525,
"aa_ref": "P",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5133,
"cdna_start": 2295,
"cds_end": null,
"cds_length": 4578,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000930560.1",
"gene_hgnc_id": 11654,
"gene_symbol": "TCOF1",
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.Pro749Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600619.1",
"strand": true,
"transcript": "ENST00000930560.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1524,
"aa_ref": "P",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5133,
"cdna_start": 2294,
"cds_end": null,
"cds_length": 4575,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000930554.1",
"gene_hgnc_id": 11654,
"gene_symbol": "TCOF1",
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.Pro749Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600613.1",
"strand": true,
"transcript": "ENST00000930554.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1514,
"aa_ref": "P",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5094,
"cdna_start": 2360,
"cds_end": null,
"cds_length": 4545,
"cds_start": 2323,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000930565.1",
"gene_hgnc_id": 11654,
"gene_symbol": "TCOF1",
"hgvs_c": "c.2323C>T",
"hgvs_p": "p.Pro775Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600624.1",
"strand": true,
"transcript": "ENST00000930565.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1509,
"aa_ref": "P",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5071,
"cdna_start": 2268,
"cds_end": null,
"cds_length": 4530,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000930570.1",
"gene_hgnc_id": 11654,
"gene_symbol": "TCOF1",
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.Pro749Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600629.1",
"strand": true,
"transcript": "ENST00000930570.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1508,
"aa_ref": "P",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5027,
"cdna_start": 2248,
"cds_end": null,
"cds_length": 4527,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000930586.1",
"gene_hgnc_id": 11654,
"gene_symbol": "TCOF1",
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.Pro749Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600645.1",
"strand": true,
"transcript": "ENST00000930586.1",
"transcript_support_level": null
},
{
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"aa_length": 1488,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5023,
"cdna_start": 2295,
"cds_end": null,
"cds_length": 4467,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001135243.2",
"gene_hgnc_id": 11654,
"gene_symbol": "TCOF1",
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.Pro749Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128715.1",
"strand": true,
"transcript": "NM_001135243.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1488,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5095,
"cdna_start": 2353,
"cds_end": null,
"cds_length": 4467,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000377797.7",
"gene_hgnc_id": 11654,
"gene_symbol": "TCOF1",
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.Pro749Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000367028.4",
"strand": true,
"transcript": "ENST00000377797.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
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"aa_length": 1488,
"aa_ref": "P",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4646,
"cdna_start": 2245,
"cds_end": null,
"cds_length": 4467,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000513346.5",
"gene_hgnc_id": 11654,
"gene_symbol": "TCOF1",
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.Pro749Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427484.1",
"strand": true,
"transcript": "ENST00000513346.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
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"aa_length": 1488,
"aa_ref": "P",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5023,
"cdna_start": 2288,
"cds_end": null,
"cds_length": 4467,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000930558.1",
"gene_hgnc_id": 11654,
"gene_symbol": "TCOF1",
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.Pro749Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600617.1",
"strand": true,
"transcript": "ENST00000930558.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1487,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5037,
"cdna_start": 2288,
"cds_end": null,
"cds_length": 4464,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000930544.1",
"gene_hgnc_id": 11654,
"gene_symbol": "TCOF1",
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.Pro749Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600603.1",
"strand": true,
"transcript": "ENST00000930544.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5021,
"cdna_start": 2291,
"cds_end": null,
"cds_length": 4464,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000930556.1",
"gene_hgnc_id": 11654,
"gene_symbol": "TCOF1",
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.Pro749Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600615.1",
"strand": true,
"transcript": "ENST00000930556.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5021,
"cdna_start": 2281,
"cds_end": null,
"cds_length": 4464,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000930557.1",
"gene_hgnc_id": 11654,
"gene_symbol": "TCOF1",
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.Pro749Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600616.1",
"strand": true,
"transcript": "ENST00000930557.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1487,
"aa_ref": "P",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4997,
"cdna_start": 2277,
"cds_end": null,
"cds_length": 4464,
"cds_start": 2245,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000930575.1",
"gene_hgnc_id": 11654,
"gene_symbol": "TCOF1",
"hgvs_c": "c.2245C>T",
"hgvs_p": "p.Pro749Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600634.1",
"strand": true,
"transcript": "ENST00000930575.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1472,
"aa_ref": "P",
"aa_start": 749,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4951,
"cdna_start": 2268,
"cds_end": null,
"cds_length": 4419,
"cds_start": 2245,
"consequences": [
"missense_variant"
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],
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}
]
}