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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: 9-128591509-G-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128591509&ref=G&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2"
],
"effects": [
"splice_donor_variant",
"intron_variant"
],
"gene_symbol": "SPTAN1",
"hgnc_id": 11273,
"hgvs_c": "c.",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 10,
"score": 10,
"transcript": "ENST00000372739.7",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_score": 10,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2477,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7875,
"cdna_start": null,
"cds_end": null,
"cds_length": 7434,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 57,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372739.7",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001130438.3",
"protein_coding": true,
"protein_id": "ENSP00000361824.4",
"strand": true,
"transcript": "ENST00000372739.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2472,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7889,
"cdna_start": null,
"cds_end": null,
"cds_length": 7419,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 56,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372731.8",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361816.4",
"strand": true,
"transcript": "ENST00000372731.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2452,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7794,
"cdna_start": null,
"cds_end": null,
"cds_length": 7359,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 55,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000358161.9",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350882.6",
"strand": true,
"transcript": "ENST00000358161.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2506,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7907,
"cdna_start": null,
"cds_end": null,
"cds_length": 7521,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 58,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000704202.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515764.1",
"strand": true,
"transcript": "ENST00000704202.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2498,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7672,
"cdna_start": null,
"cds_end": null,
"cds_length": 7497,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 58,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000630866.2",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487444.1",
"strand": true,
"transcript": "ENST00000630866.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2498,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7989,
"cdna_start": null,
"cds_end": null,
"cds_length": 7497,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 59,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853883.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523942.1",
"strand": true,
"transcript": "ENST00000853883.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2493,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7924,
"cdna_start": null,
"cds_end": null,
"cds_length": 7482,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 57,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853879.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523938.1",
"strand": true,
"transcript": "ENST00000853879.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2489,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7858,
"cdna_start": null,
"cds_end": null,
"cds_length": 7470,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 58,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000627441.3",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486547.2",
"strand": true,
"transcript": "ENST00000627441.3",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2489,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8229,
"cdna_start": null,
"cds_end": null,
"cds_length": 7470,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 58,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000704203.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515765.1",
"strand": true,
"transcript": "ENST00000704203.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2477,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7920,
"cdna_start": null,
"cds_end": null,
"cds_length": 7434,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 57,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000706487.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516412.1",
"strand": true,
"transcript": "ENST00000706487.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2473,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7864,
"cdna_start": null,
"cds_end": null,
"cds_length": 7422,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 56,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853878.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523937.1",
"strand": true,
"transcript": "ENST00000853878.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2473,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7908,
"cdna_start": null,
"cds_end": null,
"cds_length": 7422,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 57,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853884.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523943.1",
"strand": true,
"transcript": "ENST00000853884.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 2472,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7995,
"cdna_start": null,
"cds_end": null,
"cds_length": 7419,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 57,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946109.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616168.1",
"strand": true,
"transcript": "ENST00000946109.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2466,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7842,
"cdna_start": null,
"cds_end": null,
"cds_length": 7401,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 55,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853880.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523939.1",
"strand": true,
"transcript": "ENST00000853880.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2466,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7979,
"cdna_start": null,
"cds_end": null,
"cds_length": 7401,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 56,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853882.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523941.1",
"strand": true,
"transcript": "ENST00000853882.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2457,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7812,
"cdna_start": null,
"cds_end": null,
"cds_length": 7374,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 56,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000630804.2",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486308.1",
"strand": true,
"transcript": "ENST00000630804.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2452,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7846,
"cdna_start": null,
"cds_end": null,
"cds_length": 7359,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 56,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946110.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 23,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616169.1",
"strand": true,
"transcript": "ENST00000946110.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 2451,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7796,
"cdna_start": null,
"cds_end": null,
"cds_length": 7356,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 55,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946108.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616167.1",
"strand": true,
"transcript": "ENST00000946108.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2446,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7782,
"cdna_start": null,
"cds_end": null,
"cds_length": 7341,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 54,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000853881.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523940.1",
"strand": true,
"transcript": "ENST00000853881.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2410,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7668,
"cdna_start": null,
"cds_end": null,
"cds_length": 7233,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 54,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946111.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616170.1",
"strand": true,
"transcript": "ENST00000946111.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2319,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7283,
"cdna_start": null,
"cds_end": null,
"cds_length": 6960,
"cds_start": null,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_count": 54,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000704204.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515766.1",
"strand": true,
"transcript": "ENST00000704204.1",
"transcript_support_level": null
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