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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: 10-97759300-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=97759300&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 97759300,
"ref": "A",
"alt": "G",
"effect": "stop_lost",
"transcript": "ENST00000684270.1",
"consequences": [
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1236A>G",
"hgvs_p": "p.Ter412Trpext*?",
"transcript": "NM_001385875.1",
"protein_id": "NP_001372804.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 411,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": "ENST00000684270.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1236A>G",
"hgvs_p": "p.Ter412Trpext*?",
"transcript": "ENST00000684270.1",
"protein_id": "ENSP00000506975.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 411,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": "NM_001385875.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1236A>G",
"hgvs_p": "p.Ter412Trpext*?",
"transcript": "ENST00000393677.8",
"protein_id": "ENSP00000377282.3",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 411,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1269A>G",
"hgvs_p": "p.Ter423Trpext*?",
"transcript": "NM_001385876.1",
"protein_id": "NP_001372805.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 422,
"cds_start": 1269,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1468,
"cdna_end": null,
"cdna_length": 3063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1251A>G",
"hgvs_p": "p.Ter417Trpext*?",
"transcript": "NM_001002261.4",
"protein_id": "NP_001002261.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 416,
"cds_start": 1251,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 3041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1251A>G",
"hgvs_p": "p.Ter417Trpext*?",
"transcript": "NM_001385871.1",
"protein_id": "NP_001372800.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 416,
"cds_start": 1251,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 3045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1251A>G",
"hgvs_p": "p.Ter417Trpext*?",
"transcript": "ENST00000423811.3",
"protein_id": "ENSP00000409594.2",
"transcript_support_level": 5,
"aa_start": 417,
"aa_end": null,
"aa_length": 416,
"cds_start": 1251,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1450,
"cdna_end": null,
"cdna_length": 3045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1236A>G",
"hgvs_p": "p.Ter412Trpext*?",
"transcript": "NM_144588.7",
"protein_id": "NP_653189.3",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 411,
"cds_start": 1236,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 3030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1233A>G",
"hgvs_p": "p.Ter411Trpext*?",
"transcript": "NM_001385877.1",
"protein_id": "NP_001372806.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 410,
"cds_start": 1233,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1428,
"cdna_end": null,
"cdna_length": 3023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Ter410Trpext*?",
"transcript": "NM_001385878.1",
"protein_id": "NP_001372807.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 409,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 3020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1230A>G",
"hgvs_p": "p.Ter410Trpext*?",
"transcript": "NM_001385879.1",
"protein_id": "NP_001372808.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 409,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1215A>G",
"hgvs_p": "p.Ter405Trpext*?",
"transcript": "NM_001002262.4",
"protein_id": "NP_001002262.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 404,
"cds_start": 1215,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 3009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1215A>G",
"hgvs_p": "p.Ter405Trpext*?",
"transcript": "NM_001385880.1",
"protein_id": "NP_001372809.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 404,
"cds_start": 1215,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 3005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1215A>G",
"hgvs_p": "p.Ter405Trpext*?",
"transcript": "NM_001385881.1",
"protein_id": "NP_001372810.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 404,
"cds_start": 1215,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 3005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1215A>G",
"hgvs_p": "p.Ter405Trpext*?",
"transcript": "ENST00000359980.5",
"protein_id": "ENSP00000353069.3",
"transcript_support_level": 2,
"aa_start": 405,
"aa_end": null,
"aa_length": 404,
"cds_start": 1215,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1155A>G",
"hgvs_p": "p.Ter385Trpext*?",
"transcript": "NM_001385885.1",
"protein_id": "NP_001372814.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 384,
"cds_start": 1155,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1350,
"cdna_end": null,
"cdna_length": 2945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1134A>G",
"hgvs_p": "p.Ter378Trpext*?",
"transcript": "NM_001385886.1",
"protein_id": "NP_001372815.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 377,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1134A>G",
"hgvs_p": "p.Ter378Trpext*?",
"transcript": "NM_001385887.1",
"protein_id": "NP_001372816.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 377,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1134A>G",
"hgvs_p": "p.Ter378Trpext*?",
"transcript": "NM_001385888.1",
"protein_id": "NP_001372817.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 377,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1119A>G",
"hgvs_p": "p.Ter373Trpext*?",
"transcript": "NM_001174119.2",
"protein_id": "NP_001167590.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 372,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 2909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1119A>G",
"hgvs_p": "p.Ter373Trpext*?",
"transcript": "NM_001385889.1",
"protein_id": "NP_001372818.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 372,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 2909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1119A>G",
"hgvs_p": "p.Ter373Trpext*?",
"transcript": "ENST00000337540.11",
"protein_id": "ENSP00000337993.7",
"transcript_support_level": 2,
"aa_start": 373,
"aa_end": null,
"aa_length": 372,
"cds_start": 1119,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 2927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "*",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_lost"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
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"dbsnp": "rs140695712",
"frequency_reference_population": 0.00001053272,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000684047,
"gnomad_genomes_af": 0.0000460133,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.28999999165534973,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.427,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM4,BS2",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000684270.1",
"gene_symbol": "ZFYVE27",
"hgnc_id": 26559,
"effects": [
"stop_lost"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1236A>G",
"hgvs_p": "p.Ter412Trpext*?"
}
],
"clinvar_disease": "Spastic paraplegia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Spastic paraplegia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}