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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: 3-11031230-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=11031230&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Moderate",
"PM1",
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC6A1",
"hgnc_id": 11042,
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Ser459Arg",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 16,
"score": 16,
"transcript": "NM_003042.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Moderate,PM1,PM2,PP3_Moderate,PP5_Very_Strong",
"acmg_score": 16,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9982,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.23,
"chr": "3",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Epilepsy with myoclonic atonic seizures",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9223792552947998,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 599,
"aa_ref": "S",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4478,
"cdna_start": 1774,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1377,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_003042.4",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Ser459Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000287766.10",
"protein_coding": true,
"protein_id": "NP_003033.3",
"strand": true,
"transcript": "NM_003042.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 599,
"aa_ref": "S",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4478,
"cdna_start": 1774,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1377,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000287766.10",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Ser459Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003042.4",
"protein_coding": true,
"protein_id": "ENSP00000287766.4",
"strand": true,
"transcript": "ENST00000287766.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 623,
"aa_ref": "S",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4161,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 1872,
"cds_start": 1449,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000698198.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.1449C>G",
"hgvs_p": "p.Ser483Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513602.1",
"strand": true,
"transcript": "ENST00000698198.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 608,
"aa_ref": "S",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4093,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1404,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000644803.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.1404C>G",
"hgvs_p": "p.Ser468Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494469.1",
"strand": true,
"transcript": "ENST00000644803.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 599,
"aa_ref": "S",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4417,
"cdna_start": 1713,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1377,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001348250.2",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Ser459Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001335179.1",
"strand": true,
"transcript": "NM_001348250.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 599,
"aa_ref": "S",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4174,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1377,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000642201.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Ser459Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494778.1",
"strand": true,
"transcript": "ENST00000642201.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 599,
"aa_ref": "S",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4720,
"cdna_start": 2781,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1377,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000642515.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Ser459Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496348.1",
"strand": true,
"transcript": "ENST00000642515.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 599,
"aa_ref": "S",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3934,
"cdna_start": 1748,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1377,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000642639.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Ser459Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494191.1",
"strand": true,
"transcript": "ENST00000642639.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 599,
"aa_ref": "S",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4577,
"cdna_start": 1887,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1377,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000642735.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Ser459Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494050.1",
"strand": true,
"transcript": "ENST00000642735.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 599,
"aa_ref": "S",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4437,
"cdna_start": 1733,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1377,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000642767.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Ser459Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494346.1",
"strand": true,
"transcript": "ENST00000642767.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 599,
"aa_ref": "S",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4629,
"cdna_start": 1958,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1377,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000642820.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Ser459Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495900.1",
"strand": true,
"transcript": "ENST00000642820.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 599,
"aa_ref": "S",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6767,
"cdna_start": 4118,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1377,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000643396.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Ser459Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494136.1",
"strand": true,
"transcript": "ENST00000643396.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 599,
"aa_ref": "S",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4341,
"cdna_start": 1826,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1377,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000643498.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Ser459Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494997.1",
"strand": true,
"transcript": "ENST00000643498.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 599,
"aa_ref": "S",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4453,
"cdna_start": 1817,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1377,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000645029.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Ser459Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496171.1",
"strand": true,
"transcript": "ENST00000645029.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 599,
"aa_ref": "S",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4612,
"cdna_start": 1925,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1377,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000645054.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Ser459Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495751.1",
"strand": true,
"transcript": "ENST00000645054.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 599,
"aa_ref": "S",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4324,
"cdna_start": 1698,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1377,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000645592.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Ser459Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496619.1",
"strand": true,
"transcript": "ENST00000645592.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 599,
"aa_ref": "S",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4764,
"cdna_start": 2077,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1377,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000645974.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Ser459Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496390.1",
"strand": true,
"transcript": "ENST00000645974.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 599,
"aa_ref": "S",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4282,
"cdna_start": 1639,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1377,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000646022.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Ser459Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494134.1",
"strand": true,
"transcript": "ENST00000646022.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 599,
"aa_ref": "S",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4594,
"cdna_start": 1968,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1377,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000646060.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Ser459Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496302.1",
"strand": true,
"transcript": "ENST00000646060.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 599,
"aa_ref": "S",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4727,
"cdna_start": 2083,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1377,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000646570.1",
"gene_hgnc_id": 11042,
"gene_symbol": "SLC6A1",
"hgvs_c": "c.1377C>G",
"hgvs_p": "p.Ser459Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496064.1",
"strand": true,
"transcript": "ENST00000646570.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 599,
"aa_ref": "S",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4343,
"cdna_start": 1712,
"cds_end": null,
"cds_length": 1800,
"cds_start": 1377,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
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