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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: 1-92262862-C-CTTGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=92262862&ref=C&alt=CTTGA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 92262862,
"ref": "C",
"alt": "CTTGA",
"effect": "frameshift_variant,splice_region_variant",
"transcript": "NM_053274.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1470_1473dupTCAA",
"hgvs_p": "p.Thr492fs",
"transcript": "NM_053274.3",
"protein_id": "NP_444504.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 594,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370360.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_053274.3"
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1470_1473dupTCAA",
"hgvs_p": "p.Thr492fs",
"transcript": "ENST00000370360.8",
"protein_id": "ENSP00000359385.3",
"transcript_support_level": 1,
"aa_start": 491,
"aa_end": null,
"aa_length": 594,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_053274.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370360.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "n.*131_*134dupTCAA",
"hgvs_p": null,
"transcript": "ENST00000495106.5",
"protein_id": "ENSP00000436829.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000495106.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "n.*131_*134dupTCAA",
"hgvs_p": null,
"transcript": "ENST00000495106.5",
"protein_id": "ENSP00000436829.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000495106.5"
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1470_1473dupTCAA",
"hgvs_p": "p.Phe492fs",
"transcript": "ENST00000931421.1",
"protein_id": "ENSP00000601480.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 616,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931421.1"
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1506_1509dupTCAA",
"hgvs_p": "p.Thr504fs",
"transcript": "ENST00000896612.1",
"protein_id": "ENSP00000566671.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 606,
"cds_start": 1509,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896612.1"
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1470_1473dupTCAA",
"hgvs_p": "p.Thr492fs",
"transcript": "ENST00000896609.1",
"protein_id": "ENSP00000566668.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 594,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896609.1"
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1428_1431dupTCAA",
"hgvs_p": "p.Thr478fs",
"transcript": "NM_001319683.2",
"protein_id": "NP_001306612.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 580,
"cds_start": 1431,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319683.2"
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1380_1383dupTCAA",
"hgvs_p": "p.Thr462fs",
"transcript": "ENST00000896610.1",
"protein_id": "ENSP00000566669.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 564,
"cds_start": 1383,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896610.1"
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1350_1353dupTCAA",
"hgvs_p": "p.Thr452fs",
"transcript": "ENST00000931417.1",
"protein_id": "ENSP00000601476.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 554,
"cds_start": 1353,
"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": "ENST00000931417.1"
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1344_1347dupTCAA",
"hgvs_p": "p.Thr450fs",
"transcript": "ENST00000896611.1",
"protein_id": "ENSP00000566670.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 552,
"cds_start": 1347,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896611.1"
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1338_1341dupTCAA",
"hgvs_p": "p.Thr448fs",
"transcript": "ENST00000931420.1",
"protein_id": "ENSP00000601479.1",
"transcript_support_level": null,
"aa_start": 447,
"aa_end": null,
"aa_length": 550,
"cds_start": 1341,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931420.1"
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1470_1473dupTCAA",
"hgvs_p": "p.Val492fs",
"transcript": "ENST00000946567.1",
"protein_id": "ENSP00000616626.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 529,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946567.1"
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.900_903dupTCAA",
"hgvs_p": "p.Thr302fs",
"transcript": "ENST00000931415.1",
"protein_id": "ENSP00000601474.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 404,
"cds_start": 903,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931415.1"
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.693_696dupTCAA",
"hgvs_p": "p.Thr233fs",
"transcript": "ENST00000495852.6",
"protein_id": "ENSP00000469157.2",
"transcript_support_level": 5,
"aa_start": 232,
"aa_end": null,
"aa_length": 296,
"cds_start": 696,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000495852.6"
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.537_540dupTCAA",
"hgvs_p": "p.Thr181fs",
"transcript": "ENST00000896608.1",
"protein_id": "ENSP00000566667.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 283,
"cds_start": 540,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896608.1"
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1569_1572dupTCAA",
"hgvs_p": "p.Thr525fs",
"transcript": "XM_017000137.2",
"protein_id": "XP_016855626.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 627,
"cds_start": 1572,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000137.2"
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1527_1530dupTCAA",
"hgvs_p": "p.Thr511fs",
"transcript": "XM_017000138.2",
"protein_id": "XP_016855627.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 613,
"cds_start": 1530,
"cds_end": null,
"cds_length": 1842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000138.2"
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1470_1473dupTCAA",
"hgvs_p": "p.Thr492fs",
"transcript": "XM_011540546.3",
"protein_id": "XP_011538848.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 594,
"cds_start": 1473,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540546.3"
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1464_1467dupTCAA",
"hgvs_p": "p.Thr490fs",
"transcript": "XM_017000139.2",
"protein_id": "XP_016855628.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 592,
"cds_start": 1467,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000139.2"
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GLMN",
"gene_hgnc_id": 14373,
"hgvs_c": "c.1443_1446dupTCAA",
"hgvs_p": "p.Thr483fs",
"transcript": "XM_017000140.2",
"protein_id": "XP_016855629.1",
"transcript_support_level": null,
"aa_start": 482,
"aa_end": null,
"aa_length": 585,
"cds_start": 1446,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000140.2"
},
{
"aa_ref": "Q",
"aa_alt": "QS?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 15,
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"phenotype_combined": "Glomuvenous malformation",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}