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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: 5-126555940-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=126555940&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ALDH7A1",
"hgnc_id": 877,
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Pro362Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001182.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP2,PP3",
"acmg_score": 4,
"allele_count_reference_population": 44,
"alphamissense_prediction": null,
"alphamissense_score": 0.7316,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.19,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Pyridoxine-dependent epilepsy,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7586855888366699,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 539,
"aa_ref": "P",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4765,
"cdna_start": 1105,
"cds_end": null,
"cds_length": 1620,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001182.5",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Pro362Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000409134.8",
"protein_coding": true,
"protein_id": "NP_001173.2",
"strand": false,
"transcript": "NM_001182.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 539,
"aa_ref": "P",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4765,
"cdna_start": 1105,
"cds_end": null,
"cds_length": 1620,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000409134.8",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Pro362Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001182.5",
"protein_coding": true,
"protein_id": "ENSP00000387123.3",
"strand": false,
"transcript": "ENST00000409134.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 554,
"aa_ref": "P",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2501,
"cdna_start": 1150,
"cds_end": null,
"cds_length": 1665,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000636879.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.1129C>T",
"hgvs_p": "p.Pro377Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490811.1",
"strand": false,
"transcript": "ENST00000636879.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 553,
"aa_ref": "P",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3447,
"cdna_start": 1176,
"cds_end": null,
"cds_length": 1662,
"cds_start": 1126,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000939100.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.1126C>T",
"hgvs_p": "p.Pro376Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609159.1",
"strand": false,
"transcript": "ENST00000939100.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 549,
"aa_ref": "P",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1871,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000865294.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Pro362Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535353.1",
"strand": false,
"transcript": "ENST00000865294.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 546,
"aa_ref": "P",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1849,
"cdna_start": 1105,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1105,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000865298.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.1105C>T",
"hgvs_p": "p.Pro369Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535357.1",
"strand": false,
"transcript": "ENST00000865298.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 544,
"aa_ref": "P",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2135,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1081,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000635851.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.1081C>T",
"hgvs_p": "p.Pro361Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490819.1",
"strand": false,
"transcript": "ENST00000635851.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 538,
"aa_ref": "P",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2506,
"cdna_start": 1133,
"cds_end": null,
"cds_length": 1617,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000939101.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Pro362Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609160.1",
"strand": false,
"transcript": "ENST00000939101.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 536,
"aa_ref": "P",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2554,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1075,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000637272.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.1075C>T",
"hgvs_p": "p.Pro359Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489686.1",
"strand": false,
"transcript": "ENST00000637272.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 536,
"aa_ref": "P",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1839,
"cdna_start": 1105,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000865293.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Pro362Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535352.1",
"strand": false,
"transcript": "ENST00000865293.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 526,
"aa_ref": "P",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1045,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000865287.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Pro349Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535346.1",
"strand": false,
"transcript": "ENST00000865287.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 525,
"aa_ref": "P",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1794,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1042,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000865296.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.1042C>T",
"hgvs_p": "p.Pro348Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535355.1",
"strand": false,
"transcript": "ENST00000865296.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 521,
"aa_ref": "P",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1773,
"cdna_start": 1105,
"cds_end": null,
"cds_length": 1566,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000637782.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Pro362Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490024.1",
"strand": false,
"transcript": "ENST00000637782.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 513,
"aa_ref": "P",
"aa_start": 336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1758,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1006,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000865295.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.1006C>T",
"hgvs_p": "p.Pro336Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535354.1",
"strand": false,
"transcript": "ENST00000865295.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 511,
"aa_ref": "P",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4765,
"cdna_start": 1105,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1000,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001201377.2",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.1000C>T",
"hgvs_p": "p.Pro334Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001188306.1",
"strand": false,
"transcript": "NM_001201377.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 505,
"aa_ref": "P",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": 1003,
"cds_end": null,
"cds_length": 1518,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000865291.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.982C>T",
"hgvs_p": "p.Pro328Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535350.1",
"strand": false,
"transcript": "ENST00000865291.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 500,
"aa_ref": "P",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 1105,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000865288.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Pro362Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535347.1",
"strand": false,
"transcript": "ENST00000865288.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 499,
"aa_ref": "P",
"aa_start": 322,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2332,
"cdna_start": 985,
"cds_end": null,
"cds_length": 1500,
"cds_start": 964,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000636743.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.964C>T",
"hgvs_p": "p.Pro322Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489725.1",
"strand": false,
"transcript": "ENST00000636743.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 498,
"aa_ref": "P",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1726,
"cdna_start": 982,
"cds_end": null,
"cds_length": 1497,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000865292.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.961C>T",
"hgvs_p": "p.Pro321Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000535351.1",
"strand": false,
"transcript": "ENST00000865292.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 489,
"aa_ref": "P",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1564,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 1470,
"cds_start": 1084,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000960036.1",
"gene_hgnc_id": 877,
"gene_symbol": "ALDH7A1",
"hgvs_c": "c.1084C>T",
"hgvs_p": "p.Pro362Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630095.1",
"strand": false,
"transcript": "ENST00000960036.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 472,
"aa_ref": "P",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1419,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000636886.1",
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