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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: 12-120978597-AGGGTTGG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=120978597&ref=AGGGTTGG&alt=A&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "12",
"pos": 120978597,
"ref": "AGGGTTGG",
"alt": "A",
"effect": "5_prime_UTR_variant",
"transcript": "NM_000545.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.-160_-154delTGGGGGT",
"hgvs_p": null,
"transcript": "NM_000545.8",
"protein_id": "NP_000536.6",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": "ENST00000257555.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.-160_-154delTGGGGGT",
"hgvs_p": null,
"transcript": "ENST00000257555.11",
"protein_id": "ENSP00000257555.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3442,
"mane_select": "NM_000545.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.-160_-154delTGGGGGT",
"hgvs_p": null,
"transcript": "NM_001306179.2",
"protein_id": "NP_001293108.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 638,
"cds_start": -4,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.-160_-154delTGGGGGT",
"hgvs_p": null,
"transcript": "NM_001406915.1",
"protein_id": "NP_001393844.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 567,
"cds_start": -4,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3250,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.-160_-154delTGGGGGT",
"hgvs_p": null,
"transcript": "ENST00000400024.6",
"protein_id": "ENSP00000476181.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 542,
"cds_start": -4,
"cds_end": null,
"cds_length": 1629,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.-160_-154delTGGGGGT",
"hgvs_p": null,
"transcript": "XM_024449168.2",
"protein_id": "XP_024304936.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 662,
"cds_start": -4,
"cds_end": null,
"cds_length": 1989,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNF1A-AS1",
"gene_hgnc_id": 26785,
"hgvs_c": "n.153+1010_153+1016delCCAACCC",
"hgvs_p": null,
"transcript": "ENST00000433033.4",
"protein_id": null,
"transcript_support_level": 3,
"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": 737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNF1A-AS1",
"gene_hgnc_id": 26785,
"hgvs_c": "n.322+2040_322+2046delCCAACCC",
"hgvs_p": null,
"transcript": "ENST00000535301.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNF1A-AS1",
"gene_hgnc_id": 26785,
"hgvs_c": "n.291+2040_291+2046delCCAACCC",
"hgvs_p": null,
"transcript": "ENST00000537361.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNF1A-AS1",
"gene_hgnc_id": 26785,
"hgvs_c": "n.295+2040_295+2046delCCAACCC",
"hgvs_p": null,
"transcript": "ENST00000619441.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNF1A-AS1",
"gene_hgnc_id": 26785,
"hgvs_c": "n.134+1010_134+1016delCCAACCC",
"hgvs_p": null,
"transcript": "ENST00000646404.1",
"protein_id": null,
"transcript_support_level": null,
"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": 557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "HNF1A-AS1",
"gene_hgnc_id": 26785,
"hgvs_c": "n.289-1683_289-1677delCCAACCC",
"hgvs_p": null,
"transcript": "ENST00000647473.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 1144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNF1A-AS1",
"gene_hgnc_id": 26785,
"hgvs_c": "n.325+2040_325+2046delCCAACCC",
"hgvs_p": null,
"transcript": "ENST00000701238.2",
"protein_id": null,
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"cds_length": null,
"cdna_start": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNF1A-AS1",
"gene_hgnc_id": 26785,
"hgvs_c": "n.153+1010_153+1016delCCAACCC",
"hgvs_p": null,
"transcript": "ENST00000701967.2",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNF1A-AS1",
"gene_hgnc_id": 26785,
"hgvs_c": "n.296+2040_296+2046delCCAACCC",
"hgvs_p": null,
"transcript": "ENST00000760046.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 630,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HNF1A-AS1",
"gene_hgnc_id": 26785,
"hgvs_c": "n.497+273_497+279delCCAACCC",
"hgvs_p": null,
"transcript": "ENST00000760047.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "HNF1A-AS1",
"gene_hgnc_id": 26785,
"hgvs_c": "n.257-1683_257-1677delCCAACCC",
"hgvs_p": null,
"transcript": "ENST00000760048.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNF1A-AS1",
"gene_hgnc_id": 26785,
"hgvs_c": "n.257-1683_257-1677delCCAACCC",
"hgvs_p": null,
"transcript": "ENST00000760049.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
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"cdna_start": null,
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"cdna_length": 750,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HNF1A-AS1",
"gene_hgnc_id": 26785,
"hgvs_c": "n.256+2040_256+2046delCCAACCC",
"hgvs_p": null,
"transcript": "ENST00000760050.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "c.-171_-165delGGGTTGG",
"hgvs_p": null,
"transcript": "ENST00000544413.2",
"protein_id": "ENSP00000438804.1",
"transcript_support_level": 1,
"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "n.-53_-47delGGGTTGG",
"hgvs_p": null,
"transcript": "ENST00000535955.5",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "n.-53_-47delGGGTTGG",
"hgvs_p": null,
"transcript": "ENST00000538626.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HNF1A",
"gene_hgnc_id": 11621,
"hgvs_c": "n.-171_-165delGGGTTGG",
"hgvs_p": null,
"transcript": "ENST00000538646.5",
"protein_id": "ENSP00000443964.1",
"transcript_support_level": 1,
"aa_start": null,
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"cds_start": -4,
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}
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"computational_prediction_selected": null,
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{
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"criteria": [
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"verdict": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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}
],
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"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}