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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: 10-97753135-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=97753135&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 97753135,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000684270.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.995C>G",
"hgvs_p": "p.Ser332Cys",
"transcript": "NM_001385875.1",
"protein_id": "NP_001372804.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 411,
"cds_start": 995,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": "ENST00000684270.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.995C>G",
"hgvs_p": "p.Ser332Cys",
"transcript": "ENST00000684270.1",
"protein_id": "ENSP00000506975.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 411,
"cds_start": 995,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1190,
"cdna_end": null,
"cdna_length": 3026,
"mane_select": "NM_001385875.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.995C>G",
"hgvs_p": "p.Ser332Cys",
"transcript": "ENST00000393677.8",
"protein_id": "ENSP00000377282.3",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 411,
"cds_start": 995,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1199,
"cdna_end": null,
"cdna_length": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1028C>G",
"hgvs_p": "p.Ser343Cys",
"transcript": "NM_001385876.1",
"protein_id": "NP_001372805.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 422,
"cds_start": 1028,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 3063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1010C>G",
"hgvs_p": "p.Ser337Cys",
"transcript": "NM_001002261.4",
"protein_id": "NP_001002261.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 416,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 3041,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1010C>G",
"hgvs_p": "p.Ser337Cys",
"transcript": "NM_001385871.1",
"protein_id": "NP_001372800.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 416,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 3045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1010C>G",
"hgvs_p": "p.Ser337Cys",
"transcript": "ENST00000423811.3",
"protein_id": "ENSP00000409594.2",
"transcript_support_level": 5,
"aa_start": 337,
"aa_end": null,
"aa_length": 416,
"cds_start": 1010,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1209,
"cdna_end": null,
"cdna_length": 3045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.995C>G",
"hgvs_p": "p.Ser332Cys",
"transcript": "NM_144588.7",
"protein_id": "NP_653189.3",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 411,
"cds_start": 995,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 3030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.992C>G",
"hgvs_p": "p.Ser331Cys",
"transcript": "NM_001385877.1",
"protein_id": "NP_001372806.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 410,
"cds_start": 992,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 3023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.989C>G",
"hgvs_p": "p.Ser330Cys",
"transcript": "NM_001385878.1",
"protein_id": "NP_001372807.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 409,
"cds_start": 989,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1184,
"cdna_end": null,
"cdna_length": 3020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.989C>G",
"hgvs_p": "p.Ser330Cys",
"transcript": "NM_001385879.1",
"protein_id": "NP_001372808.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 409,
"cds_start": 989,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.974C>G",
"hgvs_p": "p.Ser325Cys",
"transcript": "NM_001002262.4",
"protein_id": "NP_001002262.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 404,
"cds_start": 974,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 3009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.974C>G",
"hgvs_p": "p.Ser325Cys",
"transcript": "NM_001385880.1",
"protein_id": "NP_001372809.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 404,
"cds_start": 974,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 3005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.974C>G",
"hgvs_p": "p.Ser325Cys",
"transcript": "NM_001385881.1",
"protein_id": "NP_001372810.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 404,
"cds_start": 974,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 3005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.974C>G",
"hgvs_p": "p.Ser325Cys",
"transcript": "ENST00000359980.5",
"protein_id": "ENSP00000353069.3",
"transcript_support_level": 2,
"aa_start": 325,
"aa_end": null,
"aa_length": 404,
"cds_start": 974,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 1161,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.989C>G",
"hgvs_p": "p.Ser330Cys",
"transcript": "NM_001385882.1",
"protein_id": "NP_001372811.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 391,
"cds_start": 989,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 1188,
"cdna_end": null,
"cdna_length": 1678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.974C>G",
"hgvs_p": "p.Ser325Cys",
"transcript": "NM_001385883.1",
"protein_id": "NP_001372812.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 386,
"cds_start": 974,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1169,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.974C>G",
"hgvs_p": "p.Ser325Cys",
"transcript": "NM_001385884.1",
"protein_id": "NP_001372813.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 386,
"cds_start": 974,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 1663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.914C>G",
"hgvs_p": "p.Ser305Cys",
"transcript": "NM_001385885.1",
"protein_id": "NP_001372814.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 384,
"cds_start": 914,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 2945,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.893C>G",
"hgvs_p": "p.Ser298Cys",
"transcript": "NM_001385886.1",
"protein_id": "NP_001372815.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 377,
"cds_start": 893,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.893C>G",
"hgvs_p": "p.Ser298Cys",
"transcript": "NM_001385887.1",
"protein_id": "NP_001372816.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 377,
"cds_start": 893,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
"hgvs_c": "c.893C>G",
"hgvs_p": "p.Ser298Cys",
"transcript": "NM_001385888.1",
"protein_id": "NP_001372817.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 377,
"cds_start": 893,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE27",
"gene_hgnc_id": 26559,
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],
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"dbsnp": "rs1442129328",
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"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.497,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.584,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.72,
"spliceai_max_prediction": "Pathogenic",
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"acmg_score": 3,
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"acmg_by_gene": [
{
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],
"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AD",
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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
}