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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: 9-128617987-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128617987&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3",
"BS1"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "SPTAN1",
"hgnc_id": 11273,
"hgvs_c": "c.5515G>A",
"hgvs_p": "p.Gly1839Ser",
"inheritance_mode": "AD,AR",
"pathogenic_score": 1,
"score": -3,
"transcript": "NM_001375318.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS1",
"acmg_score": -3,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.0755,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Developmental and epileptic encephalopathy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.15111905336380005,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2477,
"aa_ref": "G",
"aa_start": 1827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7875,
"cdna_start": 5592,
"cds_end": null,
"cds_length": 7434,
"cds_start": 5479,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 57,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001130438.3",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.5479G>A",
"hgvs_p": "p.Gly1827Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372739.7",
"protein_coding": true,
"protein_id": "NP_001123910.1",
"strand": true,
"transcript": "NM_001130438.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2477,
"aa_ref": "G",
"aa_start": 1827,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7875,
"cdna_start": 5592,
"cds_end": null,
"cds_length": 7434,
"cds_start": 5479,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 57,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000372739.7",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.5479G>A",
"hgvs_p": "p.Gly1827Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 2472,
"aa_ref": "G",
"aa_start": 1822,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7889,
"cdna_start": 5606,
"cds_end": null,
"cds_length": 7419,
"cds_start": 5464,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 56,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000372731.8",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.5464G>A",
"hgvs_p": "p.Gly1822Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 2452,
"aa_ref": "G",
"aa_start": 1802,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7794,
"cdna_start": 5511,
"cds_end": null,
"cds_length": 7359,
"cds_start": 5404,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 55,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000358161.9",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.5404G>A",
"hgvs_p": "p.Gly1802Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 2510,
"aa_ref": "G",
"aa_start": 1839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8604,
"cdna_start": 6258,
"cds_end": null,
"cds_length": 7533,
"cds_start": 5515,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 59,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "NM_001375318.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.5515G>A",
"hgvs_p": "p.Gly1839Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362247.1",
"strand": true,
"transcript": "NM_001375318.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2506,
"aa_ref": "G",
"aa_start": 1827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7962,
"cdna_start": 5592,
"cds_end": null,
"cds_length": 7521,
"cds_start": 5479,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 58,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001375310.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.5479G>A",
"hgvs_p": "p.Gly1827Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362239.1",
"strand": true,
"transcript": "NM_001375310.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2506,
"aa_ref": "G",
"aa_start": 1827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7907,
"cdna_start": 5589,
"cds_end": null,
"cds_length": 7521,
"cds_start": 5479,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 58,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000704202.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.5479G>A",
"hgvs_p": "p.Gly1827Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 2498,
"aa_ref": "G",
"aa_start": 1827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7938,
"cdna_start": 5592,
"cds_end": null,
"cds_length": 7497,
"cds_start": 5479,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 58,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001363759.2",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.5479G>A",
"hgvs_p": "p.Gly1827Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350688.1",
"strand": true,
"transcript": "NM_001363759.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2498,
"aa_ref": "G",
"aa_start": 1827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7672,
"cdna_start": 5589,
"cds_end": null,
"cds_length": 7497,
"cds_start": 5479,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 58,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000630866.2",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.5479G>A",
"hgvs_p": "p.Gly1827Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 2498,
"aa_ref": "G",
"aa_start": 1827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7989,
"cdna_start": 5643,
"cds_end": null,
"cds_length": 7497,
"cds_start": 5479,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 59,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000853883.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.5479G>A",
"hgvs_p": "p.Gly1827Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 2493,
"aa_ref": "G",
"aa_start": 1822,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7923,
"cdna_start": 5577,
"cds_end": null,
"cds_length": 7482,
"cds_start": 5464,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 57,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "NM_001438445.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.5464G>A",
"hgvs_p": "p.Gly1822Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425374.1",
"strand": true,
"transcript": "NM_001438445.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2493,
"aa_ref": "G",
"aa_start": 1822,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7924,
"cdna_start": 5577,
"cds_end": null,
"cds_length": 7482,
"cds_start": 5464,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 57,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000853879.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.5464G>A",
"hgvs_p": "p.Gly1822Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 2489,
"aa_ref": "G",
"aa_start": 1839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8541,
"cdna_start": 6258,
"cds_end": null,
"cds_length": 7470,
"cds_start": 5515,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 58,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "NM_001375312.2",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.5515G>A",
"hgvs_p": "p.Gly1839Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362241.2",
"strand": true,
"transcript": "NM_001375312.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2489,
"aa_ref": "G",
"aa_start": 1839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7926,
"cdna_start": 5643,
"cds_end": null,
"cds_length": 7470,
"cds_start": 5515,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 58,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "NM_001438440.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.5515G>A",
"hgvs_p": "p.Gly1839Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425369.1",
"strand": true,
"transcript": "NM_001438440.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2489,
"aa_ref": "G",
"aa_start": 1839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7858,
"cdna_start": 5640,
"cds_end": null,
"cds_length": 7470,
"cds_start": 5515,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 58,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000627441.3",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.5515G>A",
"hgvs_p": "p.Gly1839Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 2489,
"aa_ref": "G",
"aa_start": 1839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8229,
"cdna_start": 6009,
"cds_end": null,
"cds_length": 7470,
"cds_start": 5515,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 58,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000704203.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.5515G>A",
"hgvs_p": "p.Gly1839Ser",
"intron_rank": null,
"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": "S",
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"aa_length": 2477,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8490,
"cdna_start": 6207,
"cds_end": null,
"cds_length": 7434,
"cds_start": 5479,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 57,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001375311.2",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.5479G>A",
"hgvs_p": "p.Gly1827Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362240.1",
"strand": true,
"transcript": "NM_001375311.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2477,
"aa_ref": "G",
"aa_start": 1827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7920,
"cdna_start": 5655,
"cds_end": null,
"cds_length": 7434,
"cds_start": 5479,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 57,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000706487.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.5479G>A",
"hgvs_p": "p.Gly1827Ser",
"intron_rank": null,
"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": "S",
"aa_end": null,
"aa_length": 2473,
"aa_ref": "G",
"aa_start": 1802,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7863,
"cdna_start": 5517,
"cds_end": null,
"cds_length": 7422,
"cds_start": 5404,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 56,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "NM_001438444.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.5404G>A",
"hgvs_p": "p.Gly1802Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425373.1",
"strand": true,
"transcript": "NM_001438444.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 2473,
"aa_ref": "G",
"aa_start": 1802,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7864,
"cdna_start": 5517,
"cds_end": null,
"cds_length": 7422,
"cds_start": 5404,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 56,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000853878.1",
"gene_hgnc_id": 11273,
"gene_symbol": "SPTAN1",
"hgvs_c": "c.5404G>A",
"hgvs_p": "p.Gly1802Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523937.1",
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