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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: 13-20413367-ACT-GCA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=20413367&ref=ACT&alt=GCA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CRYL1",
"hgnc_id": 18246,
"hgvs_c": "c.652_654delAGTinsTGC",
"hgvs_p": "p.Ser218Cys",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_015974.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GCA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 319,
"aa_ref": "S",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1483,
"cdna_start": 717,
"cds_end": null,
"cds_length": 960,
"cds_start": 652,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015974.3",
"gene_hgnc_id": 18246,
"gene_symbol": "CRYL1",
"hgvs_c": "c.652_654delAGTinsTGC",
"hgvs_p": "p.Ser218Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000298248.12",
"protein_coding": true,
"protein_id": "NP_057058.2",
"strand": false,
"transcript": "NM_015974.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 319,
"aa_ref": "S",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1483,
"cdna_start": 717,
"cds_end": null,
"cds_length": 960,
"cds_start": 652,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000298248.12",
"gene_hgnc_id": 18246,
"gene_symbol": "CRYL1",
"hgvs_c": "c.652_654delAGTinsTGC",
"hgvs_p": "p.Ser218Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015974.3",
"protein_coding": true,
"protein_id": "ENSP00000298248.7",
"strand": false,
"transcript": "ENST00000298248.12",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 297,
"aa_ref": "S",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1581,
"cdna_start": 817,
"cds_end": null,
"cds_length": 894,
"cds_start": 586,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000382812.5",
"gene_hgnc_id": 18246,
"gene_symbol": "CRYL1",
"hgvs_c": "c.586_588delAGTinsTGC",
"hgvs_p": "p.Ser196Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372262.1",
"strand": false,
"transcript": "ENST00000382812.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 306,
"aa_ref": "S",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1399,
"cdna_start": 638,
"cds_end": null,
"cds_length": 921,
"cds_start": 613,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887623.1",
"gene_hgnc_id": 18246,
"gene_symbol": "CRYL1",
"hgvs_c": "c.613_615delAGTinsTGC",
"hgvs_p": "p.Ser205Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557682.1",
"strand": false,
"transcript": "ENST00000887623.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 297,
"aa_ref": "S",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1725,
"cdna_start": 964,
"cds_end": null,
"cds_length": 894,
"cds_start": 586,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000643750.1",
"gene_hgnc_id": 18246,
"gene_symbol": "CRYL1",
"hgvs_c": "c.586_588delAGTinsTGC",
"hgvs_p": "p.Ser196Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493818.1",
"strand": false,
"transcript": "ENST00000643750.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 293,
"aa_ref": "S",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1372,
"cdna_start": 611,
"cds_end": null,
"cds_length": 882,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887621.1",
"gene_hgnc_id": 18246,
"gene_symbol": "CRYL1",
"hgvs_c": "c.574_576delAGTinsTGC",
"hgvs_p": "p.Ser192Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557680.1",
"strand": false,
"transcript": "ENST00000887621.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 283,
"aa_ref": "S",
"aa_start": 182,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1382,
"cdna_start": 616,
"cds_end": null,
"cds_length": 852,
"cds_start": 544,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887615.1",
"gene_hgnc_id": 18246,
"gene_symbol": "CRYL1",
"hgvs_c": "c.544_546delAGTinsTGC",
"hgvs_p": "p.Ser182Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557674.1",
"strand": false,
"transcript": "ENST00000887615.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 265,
"aa_ref": "S",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1321,
"cdna_start": 555,
"cds_end": null,
"cds_length": 798,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363647.2",
"gene_hgnc_id": 18246,
"gene_symbol": "CRYL1",
"hgvs_c": "c.490_492delAGTinsTGC",
"hgvs_p": "p.Ser164Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350576.1",
"strand": false,
"transcript": "NM_001363647.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 265,
"aa_ref": "S",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1331,
"cdna_start": 563,
"cds_end": null,
"cds_length": 798,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644593.1",
"gene_hgnc_id": 18246,
"gene_symbol": "CRYL1",
"hgvs_c": "c.490_492delAGTinsTGC",
"hgvs_p": "p.Ser164Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493784.1",
"strand": false,
"transcript": "ENST00000644593.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 254,
"aa_ref": "S",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1294,
"cdna_start": 526,
"cds_end": null,
"cds_length": 765,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887617.1",
"gene_hgnc_id": 18246,
"gene_symbol": "CRYL1",
"hgvs_c": "c.457_459delAGTinsTGC",
"hgvs_p": "p.Ser153Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557676.1",
"strand": false,
"transcript": "ENST00000887617.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 229,
"aa_ref": "S",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1183,
"cdna_start": 419,
"cds_end": null,
"cds_length": 690,
"cds_start": 382,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887619.1",
"gene_hgnc_id": 18246,
"gene_symbol": "CRYL1",
"hgvs_c": "c.382_384delAGTinsTGC",
"hgvs_p": "p.Ser128Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557678.1",
"strand": false,
"transcript": "ENST00000887619.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 200,
"aa_ref": "S",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1133,
"cdna_start": 367,
"cds_end": null,
"cds_length": 603,
"cds_start": 295,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887613.1",
"gene_hgnc_id": 18246,
"gene_symbol": "CRYL1",
"hgvs_c": "c.295_297delAGTinsTGC",
"hgvs_p": "p.Ser99Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557672.1",
"strand": false,
"transcript": "ENST00000887613.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 248,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1233,
"cdna_start": null,
"cds_end": null,
"cds_length": 747,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887622.1",
"gene_hgnc_id": 18246,
"gene_symbol": "CRYL1",
"hgvs_c": "c.634-9127_634-9125delAGTinsTGC",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557681.1",
"strand": false,
"transcript": "ENST00000887622.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1679,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000643035.1",
"gene_hgnc_id": 18246,
"gene_symbol": "CRYL1",
"hgvs_c": "n.*562_*564delAGTinsTGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496154.1",
"strand": false,
"transcript": "ENST00000643035.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2067,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000643887.1",
"gene_hgnc_id": 18246,
"gene_symbol": "CRYL1",
"hgvs_c": "n.*649_*651delAGTinsTGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495342.1",
"strand": false,
"transcript": "ENST00000643887.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000644153.1",
"gene_hgnc_id": 18246,
"gene_symbol": "CRYL1",
"hgvs_c": "n.*1091_*1093delAGTinsTGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494794.1",
"strand": false,
"transcript": "ENST00000644153.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1483,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000644167.1",
"gene_hgnc_id": 18246,
"gene_symbol": "CRYL1",
"hgvs_c": "n.652_654delAGTinsTGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000494114.1",
"strand": false,
"transcript": "ENST00000644167.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1376,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000644872.1",
"gene_hgnc_id": 18246,
"gene_symbol": "CRYL1",
"hgvs_c": "n.609_611delAGTinsTGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000644872.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1679,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000643035.1",
"gene_hgnc_id": 18246,
"gene_symbol": "CRYL1",
"hgvs_c": "n.*562_*564delAGTinsTGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000496154.1",
"strand": false,
"transcript": "ENST00000643035.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2067,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000643887.1",
"gene_hgnc_id": 18246,
"gene_symbol": "CRYL1",
"hgvs_c": "n.*649_*651delAGTinsTGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000495342.1",
"strand": false,
"transcript": "ENST00000643887.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2192,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000644153.1",
"gene_hgnc_id": 18246,
"gene_symbol": "CRYL1",
"hgvs_c": "n.*1091_*1093delAGTinsTGC",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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