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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: 4-98404549-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=98404549&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 98404549,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001100426.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Glu237Gly",
"transcript": "NM_001100427.2",
"protein_id": "NP_001093897.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 607,
"cds_start": 710,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 3747,
"mane_select": "ENST00000408927.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100427.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Glu237Gly",
"transcript": "ENST00000408927.8",
"protein_id": "ENSP00000386153.4",
"transcript_support_level": 2,
"aa_start": 237,
"aa_end": null,
"aa_length": 607,
"cds_start": 710,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 892,
"cdna_end": null,
"cdna_length": 3747,
"mane_select": "NM_001100427.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408927.8"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Glu238Gly",
"transcript": "ENST00000339360.9",
"protein_id": "ENSP00000340454.5",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 608,
"cds_start": 713,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 2092,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339360.9"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Glu238Gly",
"transcript": "ENST00000453712.6",
"protein_id": "ENSP00000407157.2",
"transcript_support_level": 1,
"aa_start": 238,
"aa_end": null,
"aa_length": 607,
"cds_start": 713,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 810,
"cdna_end": null,
"cdna_length": 2470,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453712.6"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.566A>G",
"hgvs_p": "p.Glu189Gly",
"transcript": "ENST00000380158.8",
"protein_id": "ENSP00000369503.4",
"transcript_support_level": 1,
"aa_start": 189,
"aa_end": null,
"aa_length": 559,
"cds_start": 566,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 2085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380158.8"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.563A>G",
"hgvs_p": "p.Glu188Gly",
"transcript": "ENST00000408900.7",
"protein_id": "ENSP00000386223.3",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 558,
"cds_start": 563,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 611,
"cdna_end": null,
"cdna_length": 1942,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000408900.7"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.809A>G",
"hgvs_p": "p.Glu270Gly",
"transcript": "ENST00000945540.1",
"protein_id": "ENSP00000615599.1",
"transcript_support_level": null,
"aa_start": 270,
"aa_end": null,
"aa_length": 640,
"cds_start": 809,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 976,
"cdna_end": null,
"cdna_length": 2958,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945540.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Glu238Gly",
"transcript": "NM_001100426.2",
"protein_id": "NP_001093896.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 608,
"cds_start": 713,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 3750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001100426.2"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Glu238Gly",
"transcript": "NM_021159.5",
"protein_id": "NP_066982.3",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 607,
"cds_start": 713,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 3747,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021159.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Glu237Gly",
"transcript": "ENST00000884481.1",
"protein_id": "ENSP00000554540.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 606,
"cds_start": 710,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 895,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884481.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.590A>G",
"hgvs_p": "p.Glu197Gly",
"transcript": "ENST00000932076.1",
"protein_id": "ENSP00000602135.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 567,
"cds_start": 590,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 2444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932076.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Glu238Gly",
"transcript": "ENST00000884490.1",
"protein_id": "ENSP00000554549.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 566,
"cds_start": 713,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 891,
"cdna_end": null,
"cdna_length": 2424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884490.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.713A>G",
"hgvs_p": "p.Glu238Gly",
"transcript": "ENST00000884483.1",
"protein_id": "ENSP00000554542.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 565,
"cds_start": 713,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 2432,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884483.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.584A>G",
"hgvs_p": "p.Glu195Gly",
"transcript": "ENST00000884487.1",
"protein_id": "ENSP00000554546.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 565,
"cds_start": 584,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 2427,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884487.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Glu237Gly",
"transcript": "ENST00000884488.1",
"protein_id": "ENSP00000554547.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 565,
"cds_start": 710,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 2425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884488.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.584A>G",
"hgvs_p": "p.Glu195Gly",
"transcript": "ENST00000945541.1",
"protein_id": "ENSP00000615600.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 565,
"cds_start": 584,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 2427,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945541.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.584A>G",
"hgvs_p": "p.Glu195Gly",
"transcript": "ENST00000945548.1",
"protein_id": "ENSP00000615607.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 565,
"cds_start": 584,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 2329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945548.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Glu237Gly",
"transcript": "ENST00000884497.1",
"protein_id": "ENSP00000554556.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 564,
"cds_start": 710,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000884497.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.584A>G",
"hgvs_p": "p.Glu195Gly",
"transcript": "ENST00000932078.1",
"protein_id": "ENSP00000602137.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 564,
"cds_start": 584,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 766,
"cdna_end": null,
"cdna_length": 2426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932078.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.581A>G",
"hgvs_p": "p.Glu194Gly",
"transcript": "ENST00000945542.1",
"protein_id": "ENSP00000615601.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 564,
"cds_start": 581,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 2423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945542.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Glu237Gly",
"transcript": "ENST00000945546.1",
"protein_id": "ENSP00000615605.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 564,
"cds_start": 710,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 809,
"cdna_end": null,
"cdna_length": 2339,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945546.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAP1GDS1",
"gene_hgnc_id": 9859,
"hgvs_c": "c.710A>G",
"hgvs_p": "p.Glu237Gly",
"transcript": "ENST00000884494.1",
"protein_id": "ENSP00000554553.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
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{
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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
}