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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: 18-683362-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=683362&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 683362,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001354067.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.760C>T",
"hgvs_p": "p.Arg254Cys",
"transcript": "NM_017512.7",
"protein_id": "NP_059982.2",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 443,
"cds_start": 760,
"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": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.760C>T",
"hgvs_p": "p.Arg254Cys",
"transcript": "ENST00000647584.2",
"protein_id": "ENSP00000497230.2",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 443,
"cds_start": 760,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Arg172Cys",
"transcript": "ENST00000383578.7",
"protein_id": "ENSP00000373072.3",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 361,
"cds_start": 514,
"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": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "n.*147C>T",
"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": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "n.*147C>T",
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Arg302Cys",
"transcript": "NM_001354067.2",
"protein_id": "NP_001340996.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 491,
"cds_start": 904,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.901C>T",
"hgvs_p": "p.Arg301Cys",
"transcript": "ENST00000969786.1",
"protein_id": "ENSP00000639845.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 490,
"cds_start": 901,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"transcript": "ENST00000891882.1",
"protein_id": "ENSP00000561941.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 485,
"cds_start": 886,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.868C>T",
"hgvs_p": "p.Arg290Cys",
"transcript": "ENST00000891887.1",
"protein_id": "ENSP00000561946.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 479,
"cds_start": 868,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Arg302Cys",
"transcript": "NM_202758.5",
"protein_id": "NP_974487.2",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 477,
"cds_start": 904,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Arg302Cys",
"transcript": "ENST00000340116.12",
"protein_id": "ENSP00000345974.8",
"transcript_support_level": 5,
"aa_start": 302,
"aa_end": null,
"aa_length": 477,
"cds_start": 904,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.850C>T",
"hgvs_p": "p.Arg284Cys",
"transcript": "ENST00000891890.1",
"protein_id": "ENSP00000561949.1",
"transcript_support_level": null,
"aa_start": 284,
"aa_end": null,
"aa_length": 473,
"cds_start": 850,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.886C>T",
"hgvs_p": "p.Arg296Cys",
"transcript": "ENST00000891884.1",
"protein_id": "ENSP00000561943.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 471,
"cds_start": 886,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.844C>T",
"hgvs_p": "p.Arg282Cys",
"transcript": "ENST00000917862.1",
"protein_id": "ENSP00000587921.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 471,
"cds_start": 844,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.829C>T",
"hgvs_p": "p.Arg277Cys",
"transcript": "ENST00000969789.1",
"protein_id": "ENSP00000639848.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 466,
"cds_start": 829,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.814C>T",
"hgvs_p": "p.Arg272Cys",
"transcript": "ENST00000969782.1",
"protein_id": "ENSP00000639841.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 461,
"cds_start": 814,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.847C>T",
"hgvs_p": "p.Arg283Cys",
"transcript": "ENST00000891883.1",
"protein_id": "ENSP00000561942.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 458,
"cds_start": 847,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.778C>T",
"hgvs_p": "p.Arg260Cys",
"transcript": "ENST00000969783.1",
"protein_id": "ENSP00000639842.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 449,
"cds_start": 778,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.775C>T",
"hgvs_p": "p.Arg259Cys",
"transcript": "NM_001439136.1",
"protein_id": "NP_001426065.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 448,
"cds_start": 775,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.775C>T",
"hgvs_p": "p.Arg259Cys",
"transcript": "ENST00000891880.1",
"protein_id": "ENSP00000561939.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 448,
"cds_start": 775,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.736C>T",
"hgvs_p": "p.Arg246Cys",
"transcript": "ENST00000891893.1",
"protein_id": "ENSP00000561952.1",
"transcript_support_level": null,
"aa_start": 246,
"aa_end": null,
"aa_length": 435,
"cds_start": 736,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENOSF1",
"gene_hgnc_id": 30365,
"hgvs_c": "c.775C>T",
"hgvs_p": "p.Arg259Cys",
"transcript": "ENST00000891886.1",
"protein_id": "ENSP00000561945.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 434,
"cds_start": 775,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
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],
"gene_symbol": "ENOSF1",
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.25629013776779175,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.219,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.14,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.367,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_001354067.2",
"gene_symbol": "ENOSF1",
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"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.904C>T",
"hgvs_p": "p.Arg302Cys"
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}