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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: 10-97753182-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=97753182&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 97753182,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001385876.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Gly348Arg",
"transcript": "NM_001385875.1",
"protein_id": "NP_001372804.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 411,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684270.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385875.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Gly348Arg",
"transcript": "ENST00000684270.1",
"protein_id": "ENSP00000506975.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 411,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001385875.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684270.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Gly348Arg",
"transcript": "ENST00000393677.8",
"protein_id": "ENSP00000377282.3",
"transcript_support_level": 1,
"aa_start": 348,
"aa_end": null,
"aa_length": 411,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393677.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg",
"transcript": "NM_001385876.1",
"protein_id": "NP_001372805.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 422,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385876.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Arg",
"transcript": "NM_001002261.4",
"protein_id": "NP_001002261.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 416,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002261.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Arg",
"transcript": "NM_001385871.1",
"protein_id": "NP_001372800.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 416,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385871.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Arg",
"transcript": "ENST00000423811.3",
"protein_id": "ENSP00000409594.2",
"transcript_support_level": 5,
"aa_start": 353,
"aa_end": null,
"aa_length": 416,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423811.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Gly353Arg",
"transcript": "ENST00000951157.1",
"protein_id": "ENSP00000621216.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 416,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951157.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Gly352Arg",
"transcript": "ENST00000951160.1",
"protein_id": "ENSP00000621219.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 415,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951160.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Gly348Arg",
"transcript": "NM_144588.7",
"protein_id": "NP_653189.3",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 411,
"cds_start": 1042,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144588.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1039G>A",
"hgvs_p": "p.Gly347Arg",
"transcript": "NM_001385877.1",
"protein_id": "NP_001372806.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 410,
"cds_start": 1039,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385877.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Gly346Arg",
"transcript": "NM_001385878.1",
"protein_id": "NP_001372807.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 409,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385878.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Gly346Arg",
"transcript": "NM_001385879.1",
"protein_id": "NP_001372808.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 409,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385879.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Gly345Arg",
"transcript": "ENST00000951159.1",
"protein_id": "ENSP00000621218.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 408,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1227,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951159.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Gly341Arg",
"transcript": "NM_001002262.4",
"protein_id": "NP_001002262.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 404,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002262.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Gly341Arg",
"transcript": "NM_001385880.1",
"protein_id": "NP_001372809.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 404,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385880.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Gly341Arg",
"transcript": "NM_001385881.1",
"protein_id": "NP_001372810.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 404,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385881.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Gly341Arg",
"transcript": "ENST00000359980.5",
"protein_id": "ENSP00000353069.3",
"transcript_support_level": 2,
"aa_start": 341,
"aa_end": null,
"aa_length": 404,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359980.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Gly341Arg",
"transcript": "ENST00000891775.1",
"protein_id": "ENSP00000561834.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 404,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891775.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Gly341Arg",
"transcript": "ENST00000930138.1",
"protein_id": "ENSP00000600197.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 404,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930138.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.1018G>A",
"hgvs_p": "p.Gly340Arg",
"transcript": "ENST00000951156.1",
"protein_id": "ENSP00000621215.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 403,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951156.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
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],
"gene_symbol": "ZFYVE27",
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"dbsnp": "rs779342544",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
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"computational_score_selected": 0.6346680521965027,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 1,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.374,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8789,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.194,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.35,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": 0.999997011394692,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
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"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001385876.1",
"gene_symbol": "ZFYVE27",
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"effects": [
"missense_variant",
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"inheritance_mode": "AD",
"hgvs_c": "c.1075G>A",
"hgvs_p": "p.Gly359Arg"
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],
"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
}