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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: 16-46922414-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=46922414&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 46922414,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_133443.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPT2",
"gene_hgnc_id": 18062,
"hgvs_c": "c.1210C>G",
"hgvs_p": "p.Arg404Gly",
"transcript": "NM_133443.4",
"protein_id": "NP_597700.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 523,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340124.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133443.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPT2",
"gene_hgnc_id": 18062,
"hgvs_c": "c.1210C>G",
"hgvs_p": "p.Arg404Gly",
"transcript": "ENST00000340124.9",
"protein_id": "ENSP00000345282.4",
"transcript_support_level": 1,
"aa_start": 404,
"aa_end": null,
"aa_length": 523,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_133443.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340124.9"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPT2",
"gene_hgnc_id": 18062,
"hgvs_c": "c.1342C>G",
"hgvs_p": "p.Arg448Gly",
"transcript": "ENST00000860239.1",
"protein_id": "ENSP00000530298.1",
"transcript_support_level": null,
"aa_start": 448,
"aa_end": null,
"aa_length": 567,
"cds_start": 1342,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860239.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPT2",
"gene_hgnc_id": 18062,
"hgvs_c": "c.1210C>G",
"hgvs_p": "p.Arg404Gly",
"transcript": "ENST00000927700.1",
"protein_id": "ENSP00000597759.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 555,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927700.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPT2",
"gene_hgnc_id": 18062,
"hgvs_c": "c.1303C>G",
"hgvs_p": "p.Arg435Gly",
"transcript": "ENST00000860233.1",
"protein_id": "ENSP00000530292.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 554,
"cds_start": 1303,
"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": "ENST00000860233.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPT2",
"gene_hgnc_id": 18062,
"hgvs_c": "c.1216C>G",
"hgvs_p": "p.Arg406Gly",
"transcript": "ENST00000860235.1",
"protein_id": "ENSP00000530294.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 525,
"cds_start": 1216,
"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": "ENST00000860235.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPT2",
"gene_hgnc_id": 18062,
"hgvs_c": "c.1210C>G",
"hgvs_p": "p.Arg404Gly",
"transcript": "ENST00000860229.1",
"protein_id": "ENSP00000530288.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 523,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860229.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPT2",
"gene_hgnc_id": 18062,
"hgvs_c": "c.1210C>G",
"hgvs_p": "p.Arg404Gly",
"transcript": "ENST00000860230.1",
"protein_id": "ENSP00000530289.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 523,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860230.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPT2",
"gene_hgnc_id": 18062,
"hgvs_c": "c.1210C>G",
"hgvs_p": "p.Arg404Gly",
"transcript": "ENST00000860231.1",
"protein_id": "ENSP00000530290.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 523,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860231.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPT2",
"gene_hgnc_id": 18062,
"hgvs_c": "c.1210C>G",
"hgvs_p": "p.Arg404Gly",
"transcript": "ENST00000860232.1",
"protein_id": "ENSP00000530291.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 523,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860232.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPT2",
"gene_hgnc_id": 18062,
"hgvs_c": "c.1210C>G",
"hgvs_p": "p.Arg404Gly",
"transcript": "ENST00000860234.1",
"protein_id": "ENSP00000530293.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 523,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860234.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPT2",
"gene_hgnc_id": 18062,
"hgvs_c": "c.1210C>G",
"hgvs_p": "p.Arg404Gly",
"transcript": "ENST00000860240.1",
"protein_id": "ENSP00000530299.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 523,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860240.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPT2",
"gene_hgnc_id": 18062,
"hgvs_c": "c.1210C>G",
"hgvs_p": "p.Arg404Gly",
"transcript": "ENST00000953142.1",
"protein_id": "ENSP00000623201.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 521,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953142.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPT2",
"gene_hgnc_id": 18062,
"hgvs_c": "c.1201C>G",
"hgvs_p": "p.Arg401Gly",
"transcript": "ENST00000927698.1",
"protein_id": "ENSP00000597757.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 520,
"cds_start": 1201,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927698.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPT2",
"gene_hgnc_id": 18062,
"hgvs_c": "c.1198C>G",
"hgvs_p": "p.Arg400Gly",
"transcript": "ENST00000860242.1",
"protein_id": "ENSP00000530301.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 519,
"cds_start": 1198,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860242.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPT2",
"gene_hgnc_id": 18062,
"hgvs_c": "c.1120C>G",
"hgvs_p": "p.Arg374Gly",
"transcript": "ENST00000860236.1",
"protein_id": "ENSP00000530295.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 493,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860236.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPT2",
"gene_hgnc_id": 18062,
"hgvs_c": "c.1105C>G",
"hgvs_p": "p.Arg369Gly",
"transcript": "ENST00000953143.1",
"protein_id": "ENSP00000623202.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 488,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953143.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPT2",
"gene_hgnc_id": 18062,
"hgvs_c": "c.1096C>G",
"hgvs_p": "p.Arg366Gly",
"transcript": "ENST00000860237.1",
"protein_id": "ENSP00000530296.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 485,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860237.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPT2",
"gene_hgnc_id": 18062,
"hgvs_c": "c.1210C>G",
"hgvs_p": "p.Arg404Gly",
"transcript": "ENST00000860238.1",
"protein_id": "ENSP00000530297.1",
"transcript_support_level": null,
"aa_start": 404,
"aa_end": null,
"aa_length": 471,
"cds_start": 1210,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860238.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPT2",
"gene_hgnc_id": 18062,
"hgvs_c": "c.1012C>G",
"hgvs_p": "p.Arg338Gly",
"transcript": "ENST00000927697.1",
"protein_id": "ENSP00000597756.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 457,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927697.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPT2",
"gene_hgnc_id": 18062,
"hgvs_c": "c.1012C>G",
"hgvs_p": "p.Arg338Gly",
"transcript": "ENST00000927699.1",
"protein_id": "ENSP00000597758.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 457,
"cds_start": 1012,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927699.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPT2",
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],
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"dbscsnv_ada_prediction": "Benign",
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}