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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: 1-200644457-AATT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=200644457&ref=AATT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 200644457,
"ref": "AATT",
"alt": "A",
"effect": "conservative_inframe_deletion",
"transcript": "NM_001031725.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1654_1656delAAT",
"hgvs_p": "p.Asn552del",
"transcript": "NM_001031725.6",
"protein_id": "NP_001026895.2",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 619,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000331314.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031725.6"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1654_1656delAAT",
"hgvs_p": "p.Asn552del",
"transcript": "ENST00000331314.11",
"protein_id": "ENSP00000330460.6",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 619,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001031725.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331314.11"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1654_1656delAAT",
"hgvs_p": "p.Asn552del",
"transcript": "NM_001349799.3",
"protein_id": "NP_001336728.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 619,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349799.3"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1654_1656delAAT",
"hgvs_p": "p.Asn552del",
"transcript": "NM_001349800.3",
"protein_id": "NP_001336729.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 619,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349800.3"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1654_1656delAAT",
"hgvs_p": "p.Asn552del",
"transcript": "ENST00000936161.1",
"protein_id": "ENSP00000606220.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 619,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936161.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1654_1656delAAT",
"hgvs_p": "p.Asn552del",
"transcript": "ENST00000936162.1",
"protein_id": "ENSP00000606221.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 619,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936162.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1654_1656delAAT",
"hgvs_p": "p.Asn552del",
"transcript": "ENST00000958771.1",
"protein_id": "ENSP00000628830.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 619,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958771.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1654_1656delAAT",
"hgvs_p": "p.Asn552del",
"transcript": "ENST00000958772.1",
"protein_id": "ENSP00000628831.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 619,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958772.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1654_1656delAAT",
"hgvs_p": "p.Asn552del",
"transcript": "ENST00000958776.1",
"protein_id": "ENSP00000628835.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 619,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958776.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1654_1656delAAT",
"hgvs_p": "p.Asn552del",
"transcript": "ENST00000958777.1",
"protein_id": "ENSP00000628836.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 619,
"cds_start": 1654,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958777.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1588_1590delAAT",
"hgvs_p": "p.Asn530del",
"transcript": "ENST00000886517.1",
"protein_id": "ENSP00000556576.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 597,
"cds_start": 1588,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886517.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1588_1590delAAT",
"hgvs_p": "p.Asn530del",
"transcript": "ENST00000958774.1",
"protein_id": "ENSP00000628833.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 597,
"cds_start": 1588,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958774.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1579_1581delAAT",
"hgvs_p": "p.Asn527del",
"transcript": "ENST00000936159.1",
"protein_id": "ENSP00000606218.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 594,
"cds_start": 1579,
"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": "ENST00000936159.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1564_1566delAAT",
"hgvs_p": "p.Asn522del",
"transcript": "ENST00000886516.1",
"protein_id": "ENSP00000556575.1",
"transcript_support_level": null,
"aa_start": 522,
"aa_end": null,
"aa_length": 589,
"cds_start": 1564,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886516.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1525_1527delAAT",
"hgvs_p": "p.Asn509del",
"transcript": "NM_001349801.3",
"protein_id": "NP_001336730.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 576,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349801.3"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1525_1527delAAT",
"hgvs_p": "p.Asn509del",
"transcript": "ENST00000886515.1",
"protein_id": "ENSP00000556574.1",
"transcript_support_level": null,
"aa_start": 509,
"aa_end": null,
"aa_length": 576,
"cds_start": 1525,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886515.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1450_1452delAAT",
"hgvs_p": "p.Asn484del",
"transcript": "ENST00000958770.1",
"protein_id": "ENSP00000628829.1",
"transcript_support_level": null,
"aa_start": 484,
"aa_end": null,
"aa_length": 551,
"cds_start": 1450,
"cds_end": null,
"cds_length": 1656,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958770.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1402_1404delAAT",
"hgvs_p": "p.Asn468del",
"transcript": "NM_001349803.3",
"protein_id": "NP_001336732.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 535,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349803.3"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1402_1404delAAT",
"hgvs_p": "p.Asn468del",
"transcript": "ENST00000886518.1",
"protein_id": "ENSP00000556577.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 535,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886518.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1402_1404delAAT",
"hgvs_p": "p.Asn468del",
"transcript": "ENST00000958778.1",
"protein_id": "ENSP00000628837.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 535,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958778.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
"hgvs_c": "c.1372_1374delAAT",
"hgvs_p": "p.Asn458del",
"transcript": "ENST00000958775.1",
"protein_id": "ENSP00000628834.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 525,
"cds_start": 1372,
"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": "ENST00000958775.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX59",
"gene_hgnc_id": 25360,
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"clinvar_disease": "Orofaciodigital syndrome V",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Orofaciodigital syndrome V",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}