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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: 5-36674081-GC-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=36674081&ref=GC&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC1A3",
"hgnc_id": 10941,
"hgvs_c": "c.557_558delGCinsCG",
"hgvs_p": "p.Cys186Ser",
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_001438458.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SLC1A3-AS1",
"hgnc_id": 56374,
"hgvs_c": "n.106-5371_106-5370delGCinsCG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000510740.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PS1,PP3",
"acmg_score": 5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "5",
"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": "S",
"aa_end": null,
"aa_length": 542,
"aa_ref": "C",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3919,
"cdna_start": 782,
"cds_end": null,
"cds_length": 1629,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004172.5",
"gene_hgnc_id": 10941,
"gene_symbol": "SLC1A3",
"hgvs_c": "c.557_558delGCinsCG",
"hgvs_p": "p.Cys186Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265113.9",
"protein_coding": true,
"protein_id": "NP_004163.3",
"strand": true,
"transcript": "NM_004172.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 542,
"aa_ref": "C",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3919,
"cdna_start": 782,
"cds_end": null,
"cds_length": 1629,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000265113.9",
"gene_hgnc_id": 10941,
"gene_symbol": "SLC1A3",
"hgvs_c": "c.557_558delGCinsCG",
"hgvs_p": "p.Cys186Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004172.5",
"protein_coding": true,
"protein_id": "ENSP00000265113.4",
"strand": true,
"transcript": "ENST00000265113.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 542,
"aa_ref": "C",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3834,
"cdna_start": 700,
"cds_end": null,
"cds_length": 1629,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000381918.4",
"gene_hgnc_id": 10941,
"gene_symbol": "SLC1A3",
"hgvs_c": "c.557_558delGCinsCG",
"hgvs_p": "p.Cys186Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371343.4",
"strand": true,
"transcript": "ENST00000381918.4",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 589,
"aa_ref": "C",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4060,
"cdna_start": 782,
"cds_end": null,
"cds_length": 1770,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438458.1",
"gene_hgnc_id": 10941,
"gene_symbol": "SLC1A3",
"hgvs_c": "c.557_558delGCinsCG",
"hgvs_p": "p.Cys186Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425387.1",
"strand": true,
"transcript": "NM_001438458.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 589,
"aa_ref": "C",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4194,
"cdna_start": 923,
"cds_end": null,
"cds_length": 1770,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680232.1",
"gene_hgnc_id": 10941,
"gene_symbol": "SLC1A3",
"hgvs_c": "c.557_558delGCinsCG",
"hgvs_p": "p.Cys186Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506207.1",
"strand": true,
"transcript": "ENST00000680232.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 549,
"aa_ref": "C",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": 801,
"cds_end": null,
"cds_length": 1650,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000936089.1",
"gene_hgnc_id": 10941,
"gene_symbol": "SLC1A3",
"hgvs_c": "c.578_579delGCinsCG",
"hgvs_p": "p.Cys193Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606148.1",
"strand": true,
"transcript": "ENST00000936089.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 542,
"aa_ref": "C",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4007,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1629,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438454.1",
"gene_hgnc_id": 10941,
"gene_symbol": "SLC1A3",
"hgvs_c": "c.557_558delGCinsCG",
"hgvs_p": "p.Cys186Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425383.1",
"strand": true,
"transcript": "NM_001438454.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 542,
"aa_ref": "C",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3880,
"cdna_start": 743,
"cds_end": null,
"cds_length": 1629,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438455.1",
"gene_hgnc_id": 10941,
"gene_symbol": "SLC1A3",
"hgvs_c": "c.557_558delGCinsCG",
"hgvs_p": "p.Cys186Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425384.1",
"strand": true,
"transcript": "NM_001438455.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 542,
"aa_ref": "C",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4058,
"cdna_start": 921,
"cds_end": null,
"cds_length": 1629,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438456.1",
"gene_hgnc_id": 10941,
"gene_symbol": "SLC1A3",
"hgvs_c": "c.557_558delGCinsCG",
"hgvs_p": "p.Cys186Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425385.1",
"strand": true,
"transcript": "NM_001438456.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 542,
"aa_ref": "C",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3850,
"cdna_start": 713,
"cds_end": null,
"cds_length": 1629,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438457.1",
"gene_hgnc_id": 10941,
"gene_symbol": "SLC1A3",
"hgvs_c": "c.557_558delGCinsCG",
"hgvs_p": "p.Cys186Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425386.1",
"strand": true,
"transcript": "NM_001438457.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 542,
"aa_ref": "C",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4466,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1629,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000679983.1",
"gene_hgnc_id": 10941,
"gene_symbol": "SLC1A3",
"hgvs_c": "c.557_558delGCinsCG",
"hgvs_p": "p.Cys186Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505238.1",
"strand": true,
"transcript": "ENST00000679983.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 542,
"aa_ref": "C",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3908,
"cdna_start": 774,
"cds_end": null,
"cds_length": 1629,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000679992.1",
"gene_hgnc_id": 10941,
"gene_symbol": "SLC1A3",
"hgvs_c": "c.557_558delGCinsCG",
"hgvs_p": "p.Cys186Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506585.1",
"strand": true,
"transcript": "ENST00000679992.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 542,
"aa_ref": "C",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3877,
"cdna_start": 743,
"cds_end": null,
"cds_length": 1629,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680318.1",
"gene_hgnc_id": 10941,
"gene_symbol": "SLC1A3",
"hgvs_c": "c.557_558delGCinsCG",
"hgvs_p": "p.Cys186Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505057.1",
"strand": true,
"transcript": "ENST00000680318.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 542,
"aa_ref": "C",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4001,
"cdna_start": 864,
"cds_end": null,
"cds_length": 1629,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858306.1",
"gene_hgnc_id": 10941,
"gene_symbol": "SLC1A3",
"hgvs_c": "c.557_558delGCinsCG",
"hgvs_p": "p.Cys186Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528365.1",
"strand": true,
"transcript": "ENST00000858306.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 542,
"aa_ref": "C",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3886,
"cdna_start": 749,
"cds_end": null,
"cds_length": 1629,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858307.1",
"gene_hgnc_id": 10941,
"gene_symbol": "SLC1A3",
"hgvs_c": "c.557_558delGCinsCG",
"hgvs_p": "p.Cys186Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528366.1",
"strand": true,
"transcript": "ENST00000858307.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 542,
"aa_ref": "C",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4063,
"cdna_start": 926,
"cds_end": null,
"cds_length": 1629,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000858308.1",
"gene_hgnc_id": 10941,
"gene_symbol": "SLC1A3",
"hgvs_c": "c.557_558delGCinsCG",
"hgvs_p": "p.Cys186Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528367.1",
"strand": true,
"transcript": "ENST00000858308.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 497,
"aa_ref": "C",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3784,
"cdna_start": 782,
"cds_end": null,
"cds_length": 1494,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001166695.3",
"gene_hgnc_id": 10941,
"gene_symbol": "SLC1A3",
"hgvs_c": "c.557_558delGCinsCG",
"hgvs_p": "p.Cys186Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001160167.1",
"strand": true,
"transcript": "NM_001166695.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 497,
"aa_ref": "C",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3872,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1494,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438459.1",
"gene_hgnc_id": 10941,
"gene_symbol": "SLC1A3",
"hgvs_c": "c.557_558delGCinsCG",
"hgvs_p": "p.Cys186Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425388.1",
"strand": true,
"transcript": "NM_001438459.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 497,
"aa_ref": "C",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3918,
"cdna_start": 923,
"cds_end": null,
"cds_length": 1494,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680125.1",
"gene_hgnc_id": 10941,
"gene_symbol": "SLC1A3",
"hgvs_c": "c.557_558delGCinsCG",
"hgvs_p": "p.Cys186Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506424.1",
"strand": true,
"transcript": "ENST00000680125.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 497,
"aa_ref": "C",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3859,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1494,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000681926.1",
"gene_hgnc_id": 10941,
"gene_symbol": "SLC1A3",
"hgvs_c": "c.557_558delGCinsCG",
"hgvs_p": "p.Cys186Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505850.1",
"strand": true,
"transcript": "ENST00000681926.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 497,
"aa_ref": "C",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
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