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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: 5-151663592-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=151663592&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 151663592,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_001309444.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPARC",
"gene_hgnc_id": 11219,
"hgvs_c": "c.891C>T",
"hgvs_p": "p.Ile297Ile",
"transcript": "NM_003118.4",
"protein_id": "NP_003109.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 303,
"cds_start": 891,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000231061.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003118.4"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPARC",
"gene_hgnc_id": 11219,
"hgvs_c": "c.891C>T",
"hgvs_p": "p.Ile297Ile",
"transcript": "ENST00000231061.9",
"protein_id": "ENSP00000231061.4",
"transcript_support_level": 1,
"aa_start": 297,
"aa_end": null,
"aa_length": 303,
"cds_start": 891,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003118.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000231061.9"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPARC",
"gene_hgnc_id": 11219,
"hgvs_c": "c.889C>T",
"hgvs_p": "p.Arg297*",
"transcript": "NM_001309444.2",
"protein_id": "NP_001296373.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 341,
"cds_start": 889,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001309444.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPARC",
"gene_hgnc_id": 11219,
"hgvs_c": "c.891C>T",
"hgvs_p": "p.Ile297Ile",
"transcript": "ENST00000896427.1",
"protein_id": "ENSP00000566486.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 303,
"cds_start": 891,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896427.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPARC",
"gene_hgnc_id": 11219,
"hgvs_c": "c.891C>T",
"hgvs_p": "p.Ile297Ile",
"transcript": "ENST00000896428.1",
"protein_id": "ENSP00000566487.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 303,
"cds_start": 891,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896428.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPARC",
"gene_hgnc_id": 11219,
"hgvs_c": "c.891C>T",
"hgvs_p": "p.Ile297Ile",
"transcript": "ENST00000896430.1",
"protein_id": "ENSP00000566489.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 303,
"cds_start": 891,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896430.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPARC",
"gene_hgnc_id": 11219,
"hgvs_c": "c.891C>T",
"hgvs_p": "p.Ile297Ile",
"transcript": "ENST00000896435.1",
"protein_id": "ENSP00000566494.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 303,
"cds_start": 891,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896435.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPARC",
"gene_hgnc_id": 11219,
"hgvs_c": "c.891C>T",
"hgvs_p": "p.Ile297Ile",
"transcript": "ENST00000896436.1",
"protein_id": "ENSP00000566495.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 303,
"cds_start": 891,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896436.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPARC",
"gene_hgnc_id": 11219,
"hgvs_c": "c.891C>T",
"hgvs_p": "p.Ile297Ile",
"transcript": "ENST00000896437.1",
"protein_id": "ENSP00000566496.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 303,
"cds_start": 891,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896437.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPARC",
"gene_hgnc_id": 11219,
"hgvs_c": "c.891C>T",
"hgvs_p": "p.Ile297Ile",
"transcript": "ENST00000896442.1",
"protein_id": "ENSP00000566501.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 303,
"cds_start": 891,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896442.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPARC",
"gene_hgnc_id": 11219,
"hgvs_c": "c.891C>T",
"hgvs_p": "p.Ile297Ile",
"transcript": "ENST00000896443.1",
"protein_id": "ENSP00000566502.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 303,
"cds_start": 891,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896443.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPARC",
"gene_hgnc_id": 11219,
"hgvs_c": "c.891C>T",
"hgvs_p": "p.Ile297Ile",
"transcript": "ENST00000896444.1",
"protein_id": "ENSP00000566503.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 303,
"cds_start": 891,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896444.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPARC",
"gene_hgnc_id": 11219,
"hgvs_c": "c.891C>T",
"hgvs_p": "p.Ile297Ile",
"transcript": "ENST00000896445.1",
"protein_id": "ENSP00000566504.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 303,
"cds_start": 891,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896445.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPARC",
"gene_hgnc_id": 11219,
"hgvs_c": "c.891C>T",
"hgvs_p": "p.Ile297Ile",
"transcript": "ENST00000951380.1",
"protein_id": "ENSP00000621439.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 303,
"cds_start": 891,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951380.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPARC",
"gene_hgnc_id": 11219,
"hgvs_c": "c.891C>T",
"hgvs_p": "p.Ile297Ile",
"transcript": "ENST00000951383.1",
"protein_id": "ENSP00000621442.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 303,
"cds_start": 891,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951383.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPARC",
"gene_hgnc_id": 11219,
"hgvs_c": "c.891C>T",
"hgvs_p": "p.Ile297Ile",
"transcript": "ENST00000951384.1",
"protein_id": "ENSP00000621443.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 303,
"cds_start": 891,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951384.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPARC",
"gene_hgnc_id": 11219,
"hgvs_c": "c.888C>T",
"hgvs_p": "p.Ile296Ile",
"transcript": "NM_001309443.2",
"protein_id": "NP_001296372.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 302,
"cds_start": 888,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001309443.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPARC",
"gene_hgnc_id": 11219,
"hgvs_c": "c.888C>T",
"hgvs_p": "p.Ile296Ile",
"transcript": "ENST00000896429.1",
"protein_id": "ENSP00000566488.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 302,
"cds_start": 888,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896429.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPARC",
"gene_hgnc_id": 11219,
"hgvs_c": "c.888C>T",
"hgvs_p": "p.Ile296Ile",
"transcript": "ENST00000896446.1",
"protein_id": "ENSP00000566505.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 302,
"cds_start": 888,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896446.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPARC",
"gene_hgnc_id": 11219,
"hgvs_c": "c.888C>T",
"hgvs_p": "p.Ile296Ile",
"transcript": "ENST00000951378.1",
"protein_id": "ENSP00000621437.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 302,
"cds_start": 888,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951378.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPARC",
"gene_hgnc_id": 11219,
"hgvs_c": "c.888C>T",
"hgvs_p": "p.Ile296Ile",
"transcript": "ENST00000951382.1",
"protein_id": "ENSP00000621441.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 302,
"cds_start": 888,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951382.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPARC",
"gene_hgnc_id": 11219,
"hgvs_c": "c.885C>T",
"hgvs_p": "p.Ile295Ile",
"transcript": "ENST00000896432.1",
"protein_id": "ENSP00000566491.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 301,
"cds_start": 885,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"bayesdelnoaf_score": -0.36,
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{
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}