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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: 2-61498905-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=61498905&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 61498905,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003400.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO1",
"gene_hgnc_id": 12825,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Asn200Ser",
"transcript": "NM_003400.4",
"protein_id": "NP_003391.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1071,
"cds_start": 599,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 4988,
"mane_select": "ENST00000401558.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003400.4"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO1",
"gene_hgnc_id": 12825,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Asn200Ser",
"transcript": "ENST00000401558.7",
"protein_id": "ENSP00000384863.2",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 1071,
"cds_start": 599,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 4988,
"mane_select": "NM_003400.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401558.7"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO1",
"gene_hgnc_id": 12825,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Asn200Ser",
"transcript": "ENST00000406957.5",
"protein_id": "ENSP00000385559.1",
"transcript_support_level": 1,
"aa_start": 200,
"aa_end": null,
"aa_length": 1071,
"cds_start": 599,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 742,
"cdna_end": null,
"cdna_length": 3479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406957.5"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO1",
"gene_hgnc_id": 12825,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Asn200Ser",
"transcript": "ENST00000404992.6",
"protein_id": "ENSP00000385942.2",
"transcript_support_level": 2,
"aa_start": 200,
"aa_end": null,
"aa_length": 1071,
"cds_start": 599,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 4105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404992.6"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO1",
"gene_hgnc_id": 12825,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Asn200Ser",
"transcript": "ENST00000676553.1",
"protein_id": "ENSP00000504247.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1071,
"cds_start": 599,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 4603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676553.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO1",
"gene_hgnc_id": 12825,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Asn200Ser",
"transcript": "ENST00000676667.1",
"protein_id": "ENSP00000503809.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1071,
"cds_start": 599,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 2053,
"cdna_end": null,
"cdna_length": 5801,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676667.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO1",
"gene_hgnc_id": 12825,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Asn200Ser",
"transcript": "ENST00000677150.1",
"protein_id": "ENSP00000503167.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1071,
"cds_start": 599,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 4641,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677150.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO1",
"gene_hgnc_id": 12825,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Asn200Ser",
"transcript": "ENST00000677239.1",
"protein_id": "ENSP00000504087.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1071,
"cds_start": 599,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 1028,
"cdna_end": null,
"cdna_length": 4776,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677239.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO1",
"gene_hgnc_id": 12825,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Asn200Ser",
"transcript": "ENST00000677417.1",
"protein_id": "ENSP00000503572.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1071,
"cds_start": 599,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 4452,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677417.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO1",
"gene_hgnc_id": 12825,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Asn200Ser",
"transcript": "ENST00000677813.1",
"protein_id": "ENSP00000504543.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1071,
"cds_start": 599,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 4549,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677813.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO1",
"gene_hgnc_id": 12825,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Asn200Ser",
"transcript": "ENST00000677814.1",
"protein_id": "ENSP00000504848.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1071,
"cds_start": 599,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 752,
"cdna_end": null,
"cdna_length": 4500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677814.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO1",
"gene_hgnc_id": 12825,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Asn200Ser",
"transcript": "ENST00000677928.1",
"protein_id": "ENSP00000504198.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1071,
"cds_start": 599,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 4594,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677928.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO1",
"gene_hgnc_id": 12825,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Asn200Ser",
"transcript": "ENST00000677933.1",
"protein_id": "ENSP00000503482.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1071,
"cds_start": 599,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 948,
"cdna_end": null,
"cdna_length": 4696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677933.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO1",
"gene_hgnc_id": 12825,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Asn200Ser",
"transcript": "ENST00000678182.1",
"protein_id": "ENSP00000504594.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1071,
"cds_start": 599,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 4693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678182.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO1",
"gene_hgnc_id": 12825,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Asn200Ser",
"transcript": "ENST00000678790.1",
"protein_id": "ENSP00000503419.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1071,
"cds_start": 599,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 862,
"cdna_end": null,
"cdna_length": 4610,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678790.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO1",
"gene_hgnc_id": 12825,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Asn200Ser",
"transcript": "ENST00000852809.1",
"protein_id": "ENSP00000522868.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1071,
"cds_start": 599,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 1686,
"cdna_end": null,
"cdna_length": 5187,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852809.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO1",
"gene_hgnc_id": 12825,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Asn200Ser",
"transcript": "ENST00000852810.1",
"protein_id": "ENSP00000522869.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1071,
"cds_start": 599,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 5043,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852810.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO1",
"gene_hgnc_id": 12825,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Asn200Ser",
"transcript": "ENST00000852812.1",
"protein_id": "ENSP00000522871.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1071,
"cds_start": 599,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 1490,
"cdna_end": null,
"cdna_length": 4993,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852812.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO1",
"gene_hgnc_id": 12825,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Asn200Ser",
"transcript": "ENST00000852815.1",
"protein_id": "ENSP00000522874.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1071,
"cds_start": 599,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 1527,
"cdna_end": null,
"cdna_length": 5030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852815.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO1",
"gene_hgnc_id": 12825,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Asn200Ser",
"transcript": "ENST00000852816.1",
"protein_id": "ENSP00000522875.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1071,
"cds_start": 599,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 4890,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852816.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO1",
"gene_hgnc_id": 12825,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Asn200Ser",
"transcript": "ENST00000852819.1",
"protein_id": "ENSP00000522878.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1071,
"cds_start": 599,
"cds_end": null,
"cds_length": 3216,
"cdna_start": 1408,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852819.1"
},
{
"aa_ref": "N",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XPO1",
"gene_hgnc_id": 12825,
"hgvs_c": "c.599A>G",
"hgvs_p": "p.Asn200Ser",
"transcript": "ENST00000852821.1",
"protein_id": "ENSP00000522880.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 1071,
"cds_start": 599,
"cds_end": null,
"cds_length": 3216,
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}