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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: 11-102223655-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=102223655&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 102223655,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001282101.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.1066G>T",
"hgvs_p": "p.Glu356*",
"transcript": "NM_001130145.3",
"protein_id": "NP_001123617.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 504,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000282441.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001130145.3"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.1066G>T",
"hgvs_p": "p.Glu356*",
"transcript": "ENST00000282441.10",
"protein_id": "ENSP00000282441.5",
"transcript_support_level": 1,
"aa_start": 356,
"aa_end": null,
"aa_length": 504,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001130145.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282441.10"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.1018G>T",
"hgvs_p": "p.Glu340*",
"transcript": "ENST00000531439.5",
"protein_id": "ENSP00000431574.1",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 488,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531439.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.1189G>T",
"hgvs_p": "p.Glu397*",
"transcript": "ENST00000951261.1",
"protein_id": "ENSP00000621320.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 545,
"cds_start": 1189,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951261.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.1084G>T",
"hgvs_p": "p.Glu362*",
"transcript": "ENST00000890965.1",
"protein_id": "ENSP00000561024.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 510,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890965.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.1078G>T",
"hgvs_p": "p.Glu360*",
"transcript": "NM_001282101.2",
"protein_id": "NP_001269030.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 508,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282101.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.1078G>T",
"hgvs_p": "p.Glu360*",
"transcript": "ENST00000615667.4",
"protein_id": "ENSP00000478927.1",
"transcript_support_level": 5,
"aa_start": 360,
"aa_end": null,
"aa_length": 508,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615667.4"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.1072G>T",
"hgvs_p": "p.Glu358*",
"transcript": "ENST00000890966.1",
"protein_id": "ENSP00000561025.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 506,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890966.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.1036G>T",
"hgvs_p": "p.Glu346*",
"transcript": "ENST00000951260.1",
"protein_id": "ENSP00000621319.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 494,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951260.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.1030G>T",
"hgvs_p": "p.Glu344*",
"transcript": "NM_001282100.2",
"protein_id": "NP_001269029.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 492,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282100.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.1030G>T",
"hgvs_p": "p.Glu344*",
"transcript": "ENST00000537274.5",
"protein_id": "ENSP00000445635.1",
"transcript_support_level": 5,
"aa_start": 344,
"aa_end": null,
"aa_length": 492,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537274.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.1024G>T",
"hgvs_p": "p.Glu342*",
"transcript": "ENST00000890967.1",
"protein_id": "ENSP00000561026.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 490,
"cds_start": 1024,
"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": "ENST00000890967.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.1018G>T",
"hgvs_p": "p.Glu340*",
"transcript": "NM_001195044.2",
"protein_id": "NP_001181973.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 488,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195044.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.964G>T",
"hgvs_p": "p.Glu322*",
"transcript": "NM_001282099.2",
"protein_id": "NP_001269028.1",
"transcript_support_level": null,
"aa_start": 322,
"aa_end": null,
"aa_length": 470,
"cds_start": 964,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282099.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.964G>T",
"hgvs_p": "p.Glu322*",
"transcript": "ENST00000345877.6",
"protein_id": "ENSP00000331023.4",
"transcript_support_level": 5,
"aa_start": 322,
"aa_end": null,
"aa_length": 470,
"cds_start": 964,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345877.6"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.952G>T",
"hgvs_p": "p.Glu318*",
"transcript": "NM_001282097.2",
"protein_id": "NP_001269026.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 466,
"cds_start": 952,
"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": "NM_001282097.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.952G>T",
"hgvs_p": "p.Glu318*",
"transcript": "ENST00000890964.1",
"protein_id": "ENSP00000561023.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 466,
"cds_start": 952,
"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": "ENST00000890964.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.916G>T",
"hgvs_p": "p.Glu306*",
"transcript": "NM_001282098.2",
"protein_id": "NP_001269027.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 454,
"cds_start": 916,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282098.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.916G>T",
"hgvs_p": "p.Glu306*",
"transcript": "ENST00000629586.2",
"protein_id": "ENSP00000487519.1",
"transcript_support_level": 5,
"aa_start": 306,
"aa_end": null,
"aa_length": 454,
"cds_start": 916,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000629586.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.904G>T",
"hgvs_p": "p.Glu302*",
"transcript": "NM_006106.5",
"protein_id": "NP_006097.2",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 450,
"cds_start": 904,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006106.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.904G>T",
"hgvs_p": "p.Glu302*",
"transcript": "ENST00000526343.5",
"protein_id": "ENSP00000434134.1",
"transcript_support_level": 5,
"aa_start": 302,
"aa_end": null,
"aa_length": 450,
"cds_start": 904,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526343.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "YAP1",
"gene_hgnc_id": 16262,
"hgvs_c": "c.532G>T",
"hgvs_p": "p.Glu178*",
"transcript": "NM_001195045.2",
"protein_id": "NP_001181974.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 326,
"cds_start": 532,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195045.2"
},
{
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],
"gene_symbol": "YAP1",
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"dbsnp": "rs587777250",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"computational_score_selected": 0.5109999775886536,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.18000000715255737,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.511,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.017,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.18,
"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"PM2",
"PP5"
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"verdict": "Pathogenic",
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"effects": [
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],
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],
"clinvar_disease": "Uveal coloboma-cleft lip and palate-intellectual disability",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Uveal coloboma-cleft lip and palate-intellectual disability",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}