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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: 3-42634632-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=42634632&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NKTR",
"hgnc_id": 7833,
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Pro317Ser",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001349124.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ZBTB47-AS1",
"hgnc_id": 41174,
"hgvs_c": "n.402-1937G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000434363.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.0927,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.38,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2306520640850067,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1462,
"aa_ref": "P",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7265,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 4389,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_005385.4",
"gene_hgnc_id": 7833,
"gene_symbol": "NKTR",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Pro317Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000232978.13",
"protein_coding": true,
"protein_id": "NP_005376.2",
"strand": true,
"transcript": "NM_005385.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1462,
"aa_ref": "P",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7265,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 4389,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000232978.13",
"gene_hgnc_id": 7833,
"gene_symbol": "NKTR",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Pro317Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005385.4",
"protein_coding": true,
"protein_id": "ENSP00000232978.8",
"strand": true,
"transcript": "ENST00000232978.13",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "P",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7268,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 4392,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001349124.2",
"gene_hgnc_id": 7833,
"gene_symbol": "NKTR",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Pro317Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336053.1",
"strand": true,
"transcript": "NM_001349124.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "P",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7317,
"cdna_start": 1114,
"cds_end": null,
"cds_length": 4392,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000937553.1",
"gene_hgnc_id": 7833,
"gene_symbol": "NKTR",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Pro317Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607612.1",
"strand": true,
"transcript": "ENST00000937553.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "P",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7330,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 4392,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000970640.1",
"gene_hgnc_id": 7833,
"gene_symbol": "NKTR",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Pro317Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640699.1",
"strand": true,
"transcript": "ENST00000970640.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1462,
"aa_ref": "P",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7309,
"cdna_start": 1109,
"cds_end": null,
"cds_length": 4389,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000937557.1",
"gene_hgnc_id": 7833,
"gene_symbol": "NKTR",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Pro317Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607616.1",
"strand": true,
"transcript": "ENST00000937557.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1452,
"aa_ref": "P",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7217,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 4359,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000937556.1",
"gene_hgnc_id": 7833,
"gene_symbol": "NKTR",
"hgvs_c": "c.919C>T",
"hgvs_p": "p.Pro307Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607615.1",
"strand": true,
"transcript": "ENST00000937556.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1451,
"aa_ref": "P",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7234,
"cdna_start": 1031,
"cds_end": null,
"cds_length": 4356,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000937555.1",
"gene_hgnc_id": 7833,
"gene_symbol": "NKTR",
"hgvs_c": "c.916C>T",
"hgvs_p": "p.Pro306Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607614.1",
"strand": true,
"transcript": "ENST00000937555.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1432,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7215,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 4299,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000937554.1",
"gene_hgnc_id": 7833,
"gene_symbol": "NKTR",
"hgvs_c": "c.859C>T",
"hgvs_p": "p.Pro287Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607613.1",
"strand": true,
"transcript": "ENST00000937554.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "P",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7324,
"cdna_start": 1121,
"cds_end": null,
"cds_length": 3633,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001349125.2",
"gene_hgnc_id": 7833,
"gene_symbol": "NKTR",
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336054.1",
"strand": true,
"transcript": "NM_001349125.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1463,
"aa_ref": "P",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7188,
"cdna_start": 985,
"cds_end": null,
"cds_length": 4392,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_024453539.2",
"gene_hgnc_id": 7833,
"gene_symbol": "NKTR",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Pro317Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024309307.1",
"strand": true,
"transcript": "XM_024453539.2",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7187,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 4311,
"cds_start": 949,
"consequences": [
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],
"exon_count": 18,
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"exon_rank_end": null,
"feature": "XM_006713171.3",
"gene_hgnc_id": 7833,
"gene_symbol": "NKTR",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Pro317Ser",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006713234.1",
"strand": true,
"transcript": "XM_006713171.3",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7184,
"cdna_start": 1065,
"cds_end": null,
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"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_017006474.3",
"gene_hgnc_id": 7833,
"gene_symbol": "NKTR",
"hgvs_c": "c.949C>T",
"hgvs_p": "p.Pro317Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861963.1",
"strand": true,
"transcript": "XM_017006474.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1353,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8965,
"cdna_start": 2762,
"cds_end": null,
"cds_length": 4062,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047448192.1",
"gene_hgnc_id": 7833,
"gene_symbol": "NKTR",
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Pro207Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304148.1",
"strand": true,
"transcript": "XM_047448192.1",
"transcript_support_level": null
},
{
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"aa_length": 1353,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7887,
"cdna_start": 1684,
"cds_end": null,
"cds_length": 4062,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047448193.1",
"gene_hgnc_id": 7833,
"gene_symbol": "NKTR",
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Pro207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304149.1",
"strand": true,
"transcript": "XM_047448193.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 1353,
"aa_ref": "P",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7580,
"cdna_start": 1377,
"cds_end": null,
"cds_length": 4062,
"cds_start": 619,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047448194.1",
"gene_hgnc_id": 7833,
"gene_symbol": "NKTR",
"hgvs_c": "c.619C>T",
"hgvs_p": "p.Pro207Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304150.1",
"strand": true,
"transcript": "XM_047448194.1",
"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": 12225,
"cdna_start": 6022,
"cds_end": null,
"cds_length": 3633,
"cds_start": 190,
"consequences": [
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],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047448195.1",
"gene_hgnc_id": 7833,
"gene_symbol": "NKTR",
"hgvs_c": "c.190C>T",
"hgvs_p": "p.Pro64Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047304151.1",
"strand": true,
"transcript": "XM_047448195.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1090,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 954,
"cds_start": 945,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047448196.1",
"gene_hgnc_id": 7833,
"gene_symbol": "NKTR",
"hgvs_c": "c.945C>T",
"hgvs_p": "p.His315His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047304152.1",
"strand": true,
"transcript": "XM_047448196.1",
"transcript_support_level": null
},
{
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"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7317,
"cdna_start": null,
"cds_end": null,
"cds_length": 3285,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001349126.2",
"gene_hgnc_id": 7833,
"gene_symbol": "NKTR",
"hgvs_c": "c.-156C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001336055.1",
"strand": true,
"transcript": "NM_001349126.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 371,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4023,
"cdna_start": null,
"cds_end": null,
"cds_length": 1116,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970641.1",
"gene_hgnc_id": 7833,
"gene_symbol": "NKTR",
"hgvs_c": "c.773+1809C>T",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640700.1",
"strand": true,
"transcript": "ENST00000970641.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 286,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3742,
"cdna_start": null,
"cds_end": null,
"cds_length": 861,
"cds_start": null,
"consequences": [
"intron_variant"
],
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"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001349124.2"
}
]
}