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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: 15-72755566-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72755566&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 72755566,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001365225.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.929T>C",
"hgvs_p": "p.Ile310Thr",
"transcript": "NM_001365225.1",
"protein_id": "NP_001352154.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 497,
"cds_start": 929,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000456471.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365225.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.929T>C",
"hgvs_p": "p.Ile310Thr",
"transcript": "ENST00000456471.3",
"protein_id": "ENSP00000397694.3",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 497,
"cds_start": 929,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365225.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456471.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "n.3045T>C",
"hgvs_p": null,
"transcript": "ENST00000562621.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000562621.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "n.*905T>C",
"hgvs_p": null,
"transcript": "ENST00000567941.5",
"protein_id": "ENSP00000458102.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000567941.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "n.*206T>C",
"hgvs_p": null,
"transcript": "ENST00000569693.5",
"protein_id": "ENSP00000457572.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000569693.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "n.*905T>C",
"hgvs_p": null,
"transcript": "ENST00000567941.5",
"protein_id": "ENSP00000458102.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000567941.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "n.*206T>C",
"hgvs_p": null,
"transcript": "ENST00000569693.5",
"protein_id": "ENSP00000457572.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000569693.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.971T>C",
"hgvs_p": "p.Ile324Thr",
"transcript": "ENST00000957653.1",
"protein_id": "ENSP00000627712.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 511,
"cds_start": 971,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957653.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.941T>C",
"hgvs_p": "p.Ile314Thr",
"transcript": "ENST00000853936.1",
"protein_id": "ENSP00000523995.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 501,
"cds_start": 941,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853936.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.941T>C",
"hgvs_p": "p.Ile314Thr",
"transcript": "ENST00000853934.1",
"protein_id": "ENSP00000523993.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 500,
"cds_start": 941,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853934.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.929T>C",
"hgvs_p": "p.Ile310Thr",
"transcript": "NM_031284.5",
"protein_id": "NP_112574.3",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 929,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031284.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.929T>C",
"hgvs_p": "p.Ile310Thr",
"transcript": "ENST00000311669.12",
"protein_id": "ENSP00000312250.8",
"transcript_support_level": 2,
"aa_start": 310,
"aa_end": null,
"aa_length": 496,
"cds_start": 929,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311669.12"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.866T>C",
"hgvs_p": "p.Ile289Thr",
"transcript": "ENST00000853929.1",
"protein_id": "ENSP00000523988.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 476,
"cds_start": 866,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853929.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.929T>C",
"hgvs_p": "p.Ile310Thr",
"transcript": "ENST00000853935.1",
"protein_id": "ENSP00000523994.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 476,
"cds_start": 929,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853935.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.866T>C",
"hgvs_p": "p.Ile289Thr",
"transcript": "ENST00000853931.1",
"protein_id": "ENSP00000523990.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 475,
"cds_start": 866,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853931.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.827T>C",
"hgvs_p": "p.Ile276Thr",
"transcript": "ENST00000853937.1",
"protein_id": "ENSP00000523996.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 463,
"cds_start": 827,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853937.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"transcript": "ENST00000931831.1",
"protein_id": "ENSP00000601890.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 391,
"cds_start": 611,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931831.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Ile204Thr",
"transcript": "ENST00000931832.1",
"protein_id": "ENSP00000601891.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 390,
"cds_start": 611,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931832.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Ile188Thr",
"transcript": "NM_001365226.1",
"protein_id": "NP_001352155.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 375,
"cds_start": 563,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365226.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.563T>C",
"hgvs_p": "p.Ile188Thr",
"transcript": "NM_001365223.1",
"protein_id": "NP_001352152.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 374,
"cds_start": 563,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365223.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.212T>C",
"hgvs_p": "p.Ile71Thr",
"transcript": "NM_001365224.1",
"protein_id": "NP_001352153.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 258,
"cds_start": 212,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365224.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADPGK",
"gene_hgnc_id": 25250,
"hgvs_c": "c.212T>C",
"hgvs_p": "p.Ile71Thr",
"transcript": "NM_001365229.1",
"protein_id": "NP_001352158.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 258,
"cds_start": 212,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}