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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: 5-126554294-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=126554294&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 126554294,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001182.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Gly398Val",
"transcript": "NM_001182.5",
"protein_id": "NP_001173.2",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 539,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000409134.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001182.5"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Gly398Val",
"transcript": "ENST00000409134.8",
"protein_id": "ENSP00000387123.3",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 539,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001182.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409134.8"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1238G>T",
"hgvs_p": "p.Gly413Val",
"transcript": "ENST00000636879.1",
"protein_id": "ENSP00000490811.1",
"transcript_support_level": 5,
"aa_start": 413,
"aa_end": null,
"aa_length": 554,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636879.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1235G>T",
"hgvs_p": "p.Gly412Val",
"transcript": "ENST00000939100.1",
"protein_id": "ENSP00000609159.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 553,
"cds_start": 1235,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939100.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Gly398Val",
"transcript": "ENST00000865294.1",
"protein_id": "ENSP00000535353.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 549,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865294.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1214G>T",
"hgvs_p": "p.Gly405Val",
"transcript": "ENST00000865298.1",
"protein_id": "ENSP00000535357.1",
"transcript_support_level": null,
"aa_start": 405,
"aa_end": null,
"aa_length": 546,
"cds_start": 1214,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865298.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1190G>T",
"hgvs_p": "p.Gly397Val",
"transcript": "ENST00000635851.1",
"protein_id": "ENSP00000490819.1",
"transcript_support_level": 5,
"aa_start": 397,
"aa_end": null,
"aa_length": 544,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000635851.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Gly398Val",
"transcript": "ENST00000939101.1",
"protein_id": "ENSP00000609160.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 538,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939101.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1184G>T",
"hgvs_p": "p.Gly395Val",
"transcript": "ENST00000637272.1",
"protein_id": "ENSP00000489686.1",
"transcript_support_level": 5,
"aa_start": 395,
"aa_end": null,
"aa_length": 536,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637272.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Gly398Val",
"transcript": "ENST00000865293.1",
"protein_id": "ENSP00000535352.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 536,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865293.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1154G>T",
"hgvs_p": "p.Gly385Val",
"transcript": "ENST00000865287.1",
"protein_id": "ENSP00000535346.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 526,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865287.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1151G>T",
"hgvs_p": "p.Gly384Val",
"transcript": "ENST00000865296.1",
"protein_id": "ENSP00000535355.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 525,
"cds_start": 1151,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865296.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Gly398Val",
"transcript": "ENST00000637782.1",
"protein_id": "ENSP00000490024.1",
"transcript_support_level": 5,
"aa_start": 398,
"aa_end": null,
"aa_length": 521,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637782.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1115G>T",
"hgvs_p": "p.Gly372Val",
"transcript": "ENST00000865295.1",
"protein_id": "ENSP00000535354.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 513,
"cds_start": 1115,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865295.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1109G>T",
"hgvs_p": "p.Gly370Val",
"transcript": "NM_001201377.2",
"protein_id": "NP_001188306.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 511,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001201377.2"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1091G>T",
"hgvs_p": "p.Gly364Val",
"transcript": "ENST00000865291.1",
"protein_id": "ENSP00000535350.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 505,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865291.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Gly398Val",
"transcript": "ENST00000865288.1",
"protein_id": "ENSP00000535347.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 500,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865288.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1073G>T",
"hgvs_p": "p.Gly358Val",
"transcript": "ENST00000636743.1",
"protein_id": "ENSP00000489725.1",
"transcript_support_level": 5,
"aa_start": 358,
"aa_end": null,
"aa_length": 499,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636743.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1070G>T",
"hgvs_p": "p.Gly357Val",
"transcript": "ENST00000865292.1",
"protein_id": "ENSP00000535351.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 498,
"cds_start": 1070,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865292.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Gly398Val",
"transcript": "ENST00000960036.1",
"protein_id": "ENSP00000630095.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 489,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960036.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.1013G>T",
"hgvs_p": "p.Gly338Val",
"transcript": "ENST00000637206.1",
"protein_id": "ENSP00000489895.1",
"transcript_support_level": 5,
"aa_start": 338,
"aa_end": null,
"aa_length": 479,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637206.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH7A1",
"gene_hgnc_id": 877,
"hgvs_c": "c.992G>T",
"hgvs_p": "p.Gly331Val",
"transcript": "ENST00000636886.1",
"protein_id": "ENSP00000490371.1",
"transcript_support_level": 5,
"aa_start": 331,
"aa_end": null,
"aa_length": 472,
"cds_start": 992,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
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{
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],
"gene_symbol": "ALDH7A1",
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"dbsnp": "rs864622557",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
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"gnomad_exomes_homalt": null,
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"computational_score_selected": 0.9925709962844849,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.935,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9772,
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"bayesdelnoaf_score": 0.4,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.858,
"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 13,
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"pathogenic_score": 13,
"criteria": [
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"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001182.5",
"gene_symbol": "ALDH7A1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1193G>T",
"hgvs_p": "p.Gly398Val"
}
],
"clinvar_disease": "Pyridoxine-dependent epilepsy",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Pyridoxine-dependent epilepsy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}