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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: 13-20404214-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=20404214&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 20404214,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015974.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln",
"transcript": "NM_015974.3",
"protein_id": "NP_057058.2",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 319,
"cds_start": 875,
"cds_end": null,
"cds_length": 960,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 1483,
"mane_select": "ENST00000298248.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015974.3"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln",
"transcript": "ENST00000298248.12",
"protein_id": "ENSP00000298248.7",
"transcript_support_level": 1,
"aa_start": 292,
"aa_end": null,
"aa_length": 319,
"cds_start": 875,
"cds_end": null,
"cds_length": 960,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 1483,
"mane_select": "NM_015974.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000298248.12"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"hgvs_c": "c.809C>A",
"hgvs_p": "p.Pro270Gln",
"transcript": "ENST00000382812.5",
"protein_id": "ENSP00000372262.1",
"transcript_support_level": 1,
"aa_start": 270,
"aa_end": null,
"aa_length": 297,
"cds_start": 809,
"cds_end": null,
"cds_length": 894,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382812.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"hgvs_c": "c.836C>A",
"hgvs_p": "p.Pro279Gln",
"transcript": "ENST00000887623.1",
"protein_id": "ENSP00000557682.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 306,
"cds_start": 836,
"cds_end": null,
"cds_length": 921,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 1399,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887623.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"hgvs_c": "c.809C>A",
"hgvs_p": "p.Pro270Gln",
"transcript": "ENST00000643750.1",
"protein_id": "ENSP00000493818.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 297,
"cds_start": 809,
"cds_end": null,
"cds_length": 894,
"cdna_start": 1185,
"cdna_end": null,
"cdna_length": 1725,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643750.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"hgvs_c": "c.797C>A",
"hgvs_p": "p.Pro266Gln",
"transcript": "ENST00000887621.1",
"protein_id": "ENSP00000557680.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 293,
"cds_start": 797,
"cds_end": null,
"cds_length": 882,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 1372,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887621.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"hgvs_c": "c.767C>A",
"hgvs_p": "p.Pro256Gln",
"transcript": "ENST00000887615.1",
"protein_id": "ENSP00000557674.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 283,
"cds_start": 767,
"cds_end": null,
"cds_length": 852,
"cdna_start": 837,
"cdna_end": null,
"cdna_length": 1382,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887615.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"hgvs_c": "c.713C>A",
"hgvs_p": "p.Pro238Gln",
"transcript": "NM_001363647.2",
"protein_id": "NP_001350576.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 265,
"cds_start": 713,
"cds_end": null,
"cds_length": 798,
"cdna_start": 776,
"cdna_end": null,
"cdna_length": 1321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363647.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"hgvs_c": "c.713C>A",
"hgvs_p": "p.Pro238Gln",
"transcript": "ENST00000644593.1",
"protein_id": "ENSP00000493784.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 265,
"cds_start": 713,
"cds_end": null,
"cds_length": 798,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 1331,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644593.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"hgvs_c": "c.680C>A",
"hgvs_p": "p.Pro227Gln",
"transcript": "ENST00000887617.1",
"protein_id": "ENSP00000557676.1",
"transcript_support_level": null,
"aa_start": 227,
"aa_end": null,
"aa_length": 254,
"cds_start": 680,
"cds_end": null,
"cds_length": 765,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 1294,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887617.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"hgvs_c": "c.662C>A",
"hgvs_p": "p.Pro221Gln",
"transcript": "ENST00000887622.1",
"protein_id": "ENSP00000557681.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 248,
"cds_start": 662,
"cds_end": null,
"cds_length": 747,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 1233,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887622.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"hgvs_c": "c.605C>A",
"hgvs_p": "p.Pro202Gln",
"transcript": "ENST00000887619.1",
"protein_id": "ENSP00000557678.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 229,
"cds_start": 605,
"cds_end": null,
"cds_length": 690,
"cdna_start": 640,
"cdna_end": null,
"cdna_length": 1183,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887619.1"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"hgvs_c": "c.518C>A",
"hgvs_p": "p.Pro173Gln",
"transcript": "ENST00000887613.1",
"protein_id": "ENSP00000557672.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 200,
"cds_start": 518,
"cds_end": null,
"cds_length": 603,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 1133,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887613.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"hgvs_c": "n.*785C>A",
"hgvs_p": null,
"transcript": "ENST00000643035.1",
"protein_id": "ENSP00000496154.1",
"transcript_support_level": null,
"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": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643035.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"hgvs_c": "n.*872C>A",
"hgvs_p": null,
"transcript": "ENST00000643887.1",
"protein_id": "ENSP00000495342.1",
"transcript_support_level": null,
"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": 2067,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643887.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"hgvs_c": "n.*1314C>A",
"hgvs_p": null,
"transcript": "ENST00000644153.1",
"protein_id": "ENSP00000494794.1",
"transcript_support_level": null,
"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": 2192,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000644153.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"hgvs_c": "n.*341C>A",
"hgvs_p": null,
"transcript": "ENST00000644167.1",
"protein_id": "ENSP00000494114.1",
"transcript_support_level": null,
"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": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000644167.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"hgvs_c": "n.832C>A",
"hgvs_p": null,
"transcript": "ENST00000644872.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1376,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000644872.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"hgvs_c": "n.*785C>A",
"hgvs_p": null,
"transcript": "ENST00000643035.1",
"protein_id": "ENSP00000496154.1",
"transcript_support_level": null,
"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": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643035.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"hgvs_c": "n.*872C>A",
"hgvs_p": null,
"transcript": "ENST00000643887.1",
"protein_id": "ENSP00000495342.1",
"transcript_support_level": null,
"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": 2067,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000643887.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"hgvs_c": "n.*1314C>A",
"hgvs_p": null,
"transcript": "ENST00000644153.1",
"protein_id": "ENSP00000494794.1",
"transcript_support_level": null,
"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": 2192,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000644153.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"hgvs_c": "n.*341C>A",
"hgvs_p": null,
"transcript": "ENST00000644167.1",
"protein_id": "ENSP00000494114.1",
"transcript_support_level": null,
"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": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000644167.1"
}
],
"gene_symbol": "CRYL1",
"gene_hgnc_id": 18246,
"dbsnp": "rs372602783",
"frequency_reference_population": 6.843587e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84359e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07968983054161072,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.04,
"revel_prediction": "Benign",
"alphamissense_score": 0.1022,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.023,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015974.3",
"gene_symbol": "CRYL1",
"hgnc_id": 18246,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.875C>A",
"hgvs_p": "p.Pro292Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}