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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: 18-674320-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=674320&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 674320,
"ref": "A",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001354067.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1317T>A",
"hgvs_p": "p.Pro439Pro",
"transcript": "NM_017512.7",
"protein_id": "NP_059982.2",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 443,
"cds_start": 1317,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000647584.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017512.7"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1317T>A",
"hgvs_p": "p.Pro439Pro",
"transcript": "ENST00000647584.2",
"protein_id": "ENSP00000497230.2",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 443,
"cds_start": 1317,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017512.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647584.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1071T>A",
"hgvs_p": "p.Pro357Pro",
"transcript": "ENST00000383578.7",
"protein_id": "ENSP00000373072.3",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 361,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383578.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "n.*704T>A",
"hgvs_p": null,
"transcript": "ENST00000581475.5",
"protein_id": "ENSP00000464614.1",
"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": "ENST00000581475.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "n.*704T>A",
"hgvs_p": null,
"transcript": "ENST00000581475.5",
"protein_id": "ENSP00000464614.1",
"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": "ENST00000581475.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1461T>A",
"hgvs_p": "p.Pro487Pro",
"transcript": "NM_001354067.2",
"protein_id": "NP_001340996.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 491,
"cds_start": 1461,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354067.2"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1458T>A",
"hgvs_p": "p.Pro486Pro",
"transcript": "ENST00000969786.1",
"protein_id": "ENSP00000639845.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 490,
"cds_start": 1458,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969786.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1443T>A",
"hgvs_p": "p.Pro481Pro",
"transcript": "ENST00000891882.1",
"protein_id": "ENSP00000561941.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 485,
"cds_start": 1443,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891882.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1425T>A",
"hgvs_p": "p.Pro475Pro",
"transcript": "ENST00000891887.1",
"protein_id": "ENSP00000561946.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 479,
"cds_start": 1425,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891887.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1419T>A",
"hgvs_p": "p.Pro473Pro",
"transcript": "NM_202758.5",
"protein_id": "NP_974487.2",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 477,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_202758.5"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1419T>A",
"hgvs_p": "p.Pro473Pro",
"transcript": "ENST00000340116.12",
"protein_id": "ENSP00000345974.8",
"transcript_support_level": 5,
"aa_start": 473,
"aa_end": null,
"aa_length": 477,
"cds_start": 1419,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340116.12"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1407T>A",
"hgvs_p": "p.Pro469Pro",
"transcript": "ENST00000891890.1",
"protein_id": "ENSP00000561949.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 473,
"cds_start": 1407,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891890.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1401T>A",
"hgvs_p": "p.Pro467Pro",
"transcript": "ENST00000891884.1",
"protein_id": "ENSP00000561943.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 471,
"cds_start": 1401,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891884.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1401T>A",
"hgvs_p": "p.Pro467Pro",
"transcript": "ENST00000917862.1",
"protein_id": "ENSP00000587921.1",
"transcript_support_level": null,
"aa_start": 467,
"aa_end": null,
"aa_length": 471,
"cds_start": 1401,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917862.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1386T>A",
"hgvs_p": "p.Pro462Pro",
"transcript": "ENST00000969789.1",
"protein_id": "ENSP00000639848.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 466,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969789.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1371T>A",
"hgvs_p": "p.Pro457Pro",
"transcript": "ENST00000969782.1",
"protein_id": "ENSP00000639841.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 461,
"cds_start": 1371,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969782.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1362T>A",
"hgvs_p": "p.Pro454Pro",
"transcript": "ENST00000891883.1",
"protein_id": "ENSP00000561942.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 458,
"cds_start": 1362,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891883.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1335T>A",
"hgvs_p": "p.Pro445Pro",
"transcript": "ENST00000969783.1",
"protein_id": "ENSP00000639842.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 449,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969783.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1332T>A",
"hgvs_p": "p.Pro444Pro",
"transcript": "NM_001439136.1",
"protein_id": "NP_001426065.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 448,
"cds_start": 1332,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439136.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1332T>A",
"hgvs_p": "p.Pro444Pro",
"transcript": "ENST00000891880.1",
"protein_id": "ENSP00000561939.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 448,
"cds_start": 1332,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891880.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1293T>A",
"hgvs_p": "p.Pro431Pro",
"transcript": "ENST00000891893.1",
"protein_id": "ENSP00000561952.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 435,
"cds_start": 1293,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891893.1"
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.1290T>A",
"hgvs_p": "p.Pro430Pro",
"transcript": "ENST00000891886.1",
"protein_id": "ENSP00000561945.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 434,
"cds_start": 1290,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
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{
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{
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],
"gene_symbol": "ENOSF1",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001354067.2",
"gene_symbol": "ENOSF1",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": -2,
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"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000918013.1",
"gene_symbol": "TYMS",
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],
"inheritance_mode": "Digenic",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}