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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: 15-42513423-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=42513423&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 42513423,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003825.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP23",
"gene_hgnc_id": 11131,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "NM_003825.4",
"protein_id": "NP_003816.2",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 211,
"cds_start": 124,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000249647.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003825.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP23",
"gene_hgnc_id": 11131,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "ENST00000249647.8",
"protein_id": "ENSP00000249647.3",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 211,
"cds_start": 124,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003825.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000249647.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP23",
"gene_hgnc_id": 11131,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "ENST00000397138.5",
"protein_id": "ENSP00000380327.1",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 158,
"cds_start": 124,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397138.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285942",
"gene_hgnc_id": null,
"hgvs_c": "n.*310+1700T>C",
"hgvs_p": null,
"transcript": "ENST00000650210.1",
"protein_id": "ENSP00000497618.1",
"transcript_support_level": null,
"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": "ENST00000650210.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP23",
"gene_hgnc_id": 11131,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "ENST00000873738.1",
"protein_id": "ENSP00000543797.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 222,
"cds_start": 124,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873738.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP23",
"gene_hgnc_id": 11131,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "ENST00000960523.1",
"protein_id": "ENSP00000630582.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 222,
"cds_start": 124,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960523.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP23",
"gene_hgnc_id": 11131,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "ENST00000960524.1",
"protein_id": "ENSP00000630583.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 222,
"cds_start": 124,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960524.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP23",
"gene_hgnc_id": 11131,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "ENST00000873737.1",
"protein_id": "ENSP00000543796.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 211,
"cds_start": 124,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873737.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP23",
"gene_hgnc_id": 11131,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "ENST00000873739.1",
"protein_id": "ENSP00000543798.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 211,
"cds_start": 124,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873739.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP23",
"gene_hgnc_id": 11131,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "ENST00000873740.1",
"protein_id": "ENSP00000543799.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 211,
"cds_start": 124,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873740.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP23",
"gene_hgnc_id": 11131,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "ENST00000873743.1",
"protein_id": "ENSP00000543802.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 211,
"cds_start": 124,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873743.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP23",
"gene_hgnc_id": 11131,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "ENST00000873744.1",
"protein_id": "ENSP00000543803.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 211,
"cds_start": 124,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873744.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP23",
"gene_hgnc_id": 11131,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "ENST00000960520.1",
"protein_id": "ENSP00000630579.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 211,
"cds_start": 124,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960520.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP23",
"gene_hgnc_id": 11131,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "ENST00000960521.1",
"protein_id": "ENSP00000630580.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 211,
"cds_start": 124,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960521.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP23",
"gene_hgnc_id": 11131,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "ENST00000960522.1",
"protein_id": "ENSP00000630581.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 211,
"cds_start": 124,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960522.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP23",
"gene_hgnc_id": 11131,
"hgvs_c": "c.118A>G",
"hgvs_p": "p.Ile40Val",
"transcript": "ENST00000873742.1",
"protein_id": "ENSP00000543801.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 209,
"cds_start": 118,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873742.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP23",
"gene_hgnc_id": 11131,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "ENST00000873741.1",
"protein_id": "ENSP00000543800.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 205,
"cds_start": 124,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873741.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP23",
"gene_hgnc_id": 11131,
"hgvs_c": "c.82A>G",
"hgvs_p": "p.Ile28Val",
"transcript": "ENST00000926282.1",
"protein_id": "ENSP00000596341.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 197,
"cds_start": 82,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926282.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP23",
"gene_hgnc_id": 11131,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "NM_130798.3",
"protein_id": "NP_570710.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 158,
"cds_start": 124,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130798.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP23",
"gene_hgnc_id": 11131,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "ENST00000349777.5",
"protein_id": "ENSP00000207062.1",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 158,
"cds_start": 124,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349777.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP23",
"gene_hgnc_id": 11131,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "ENST00000564153.5",
"protein_id": "ENSP00000455339.1",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 127,
"cds_start": 124,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564153.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SNAP23",
"gene_hgnc_id": 11131,
"hgvs_c": "c.124A>G",
"hgvs_p": "p.Ile42Val",
"transcript": "ENST00000561526.5",
"protein_id": "ENSP00000454214.1",
"transcript_support_level": 4,
"aa_start": 42,
"aa_end": null,
"aa_length": 124,
"cds_start": 124,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561526.5"
},
{
"aa_ref": "I",
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"verdict": "Uncertain_significance",
"transcript": "ENST00000650210.1",
"gene_symbol": "ENSG00000285942",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*310+1700T>C",
"hgvs_p": null
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000649053.1",
"gene_symbol": "ENSG00000261684",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1412+1700T>C",
"hgvs_p": null
}
],
"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
}