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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: 17-19661229-GCT-CC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=19661229&ref=GCT&alt=CC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 19661229,
"ref": "GCT",
"alt": "CC",
"effect": "frameshift_variant,missense_variant",
"transcript": "ENST00000176643.11",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.901_903delGCTinsCC",
"hgvs_p": "p.Ala301fs",
"transcript": "NM_000382.3",
"protein_id": "NP_000373.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 485,
"cds_start": 901,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": "ENST00000176643.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.901_903delGCTinsCC",
"hgvs_p": "p.Ala301fs",
"transcript": "ENST00000176643.11",
"protein_id": "ENSP00000176643.6",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 485,
"cds_start": 901,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 3703,
"mane_select": "NM_000382.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.901_903delGCTinsCC",
"hgvs_p": "p.Ala301fs",
"transcript": "ENST00000339618.8",
"protein_id": "ENSP00000345774.4",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 508,
"cds_start": 901,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 3828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "n.651_653delGCTinsCC",
"hgvs_p": null,
"transcript": "ENST00000476965.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1383,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.901_903delGCTinsCC",
"hgvs_p": "p.Ala301fs",
"transcript": "ENST00000671878.1",
"protein_id": "ENSP00000500516.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 521,
"cds_start": 901,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 2060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.901_903delGCTinsCC",
"hgvs_p": "p.Ala301fs",
"transcript": "ENST00000672465.1",
"protein_id": "ENSP00000500517.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 521,
"cds_start": 901,
"cds_end": null,
"cds_length": 1566,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.901_903delGCTinsCC",
"hgvs_p": "p.Ala301fs",
"transcript": "NM_001031806.2",
"protein_id": "NP_001026976.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 508,
"cds_start": 901,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1122,
"cdna_end": null,
"cdna_length": 3828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.901_903delGCTinsCC",
"hgvs_p": "p.Ala301fs",
"transcript": "NM_001369136.1",
"protein_id": "NP_001356065.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 508,
"cds_start": 901,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 3737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.901_903delGCTinsCC",
"hgvs_p": "p.Ala301fs",
"transcript": "NM_001369137.2",
"protein_id": "NP_001356066.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 508,
"cds_start": 901,
"cds_end": null,
"cds_length": 1527,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 3774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.901_903delGCTinsCC",
"hgvs_p": "p.Ala301fs",
"transcript": "NM_001369138.2",
"protein_id": "NP_001356067.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 485,
"cds_start": 901,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 3649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.901_903delGCTinsCC",
"hgvs_p": "p.Ala301fs",
"transcript": "NM_001369139.1",
"protein_id": "NP_001356068.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 485,
"cds_start": 901,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.901_903delGCTinsCC",
"hgvs_p": "p.Ala301fs",
"transcript": "ENST00000579855.5",
"protein_id": "ENSP00000463637.1",
"transcript_support_level": 5,
"aa_start": 301,
"aa_end": null,
"aa_length": 485,
"cds_start": 901,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1000,
"cdna_end": null,
"cdna_length": 3583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.901_903delGCTinsCC",
"hgvs_p": "p.Ala301fs",
"transcript": "ENST00000581518.6",
"protein_id": "ENSP00000461916.2",
"transcript_support_level": 5,
"aa_start": 301,
"aa_end": null,
"aa_length": 485,
"cds_start": 901,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 3183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.901_903delGCTinsCC",
"hgvs_p": "p.Ala301fs",
"transcript": "ENST00000672357.1",
"protein_id": "ENSP00000500092.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 485,
"cds_start": 901,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 1708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.754_756delGCTinsCC",
"hgvs_p": "p.Ala252fs",
"transcript": "ENST00000672709.1",
"protein_id": "ENSP00000499877.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 459,
"cds_start": 754,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.901_903delGCTinsCC",
"hgvs_p": "p.Ala301fs",
"transcript": "NM_001369146.2",
"protein_id": "NP_001356075.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 424,
"cds_start": 901,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1068,
"cdna_end": null,
"cdna_length": 3413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.901_903delGCTinsCC",
"hgvs_p": "p.Ala301fs",
"transcript": "ENST00000673136.1",
"protein_id": "ENSP00000500380.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 403,
"cds_start": 901,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 3367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.901_903delGCTinsCC",
"hgvs_p": "p.Ala301fs",
"transcript": "ENST00000631291.2",
"protein_id": "ENSP00000486085.1",
"transcript_support_level": 5,
"aa_start": 301,
"aa_end": null,
"aa_length": 393,
"cds_start": 901,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 1347,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.790_792delGCTinsCC",
"hgvs_p": "p.Ala264fs",
"transcript": "ENST00000672567.1",
"protein_id": "ENSP00000500777.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 392,
"cds_start": 790,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.574_576delGCTinsCC",
"hgvs_p": "p.Ala192fs",
"transcript": "ENST00000395575.7",
"protein_id": "ENSP00000378942.3",
"transcript_support_level": 5,
"aa_start": 192,
"aa_end": null,
"aa_length": 376,
"cds_start": 574,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 3276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.322_324delGCTinsCC",
"hgvs_p": "p.Ala108fs",
"transcript": "NM_001369148.2",
"protein_id": "NP_001356077.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 292,
"cds_start": 322,
"cds_end": null,
"cds_length": 879,
"cdna_start": 1177,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH3A2",
"gene_hgnc_id": 403,
"hgvs_c": "c.394_396delGCTinsCC",
"hgvs_p": "p.Ala132fs",
"transcript": "ENST00000571537.1",
"protein_id": "ENSP00000458942.1",
"transcript_support_level": 2,
"aa_start": 132,
"aa_end": null,
"aa_length": 162,
"cds_start": 394,
"cds_end": null,
"cds_length": 489,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Sjögren-Larsson syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}