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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: 12-196245-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=196245&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC6A12",
"hgnc_id": 11045,
"hgvs_c": "c.1205G>T",
"hgvs_p": "p.Cys402Phe",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_003044.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8157,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7714276909828186,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 614,
"aa_ref": "C",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3210,
"cdna_start": 1583,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001122848.3",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1205G>T",
"hgvs_p": "p.Cys402Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000684302.1",
"protein_coding": true,
"protein_id": "NP_001116320.1",
"strand": false,
"transcript": "NM_001122848.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 614,
"aa_ref": "C",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3210,
"cdna_start": 1583,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000684302.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1205G>T",
"hgvs_p": "p.Cys402Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001122848.3",
"protein_coding": true,
"protein_id": "ENSP00000508194.1",
"strand": false,
"transcript": "ENST00000684302.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 614,
"aa_ref": "C",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3165,
"cdna_start": 1534,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000359674.8",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1205G>T",
"hgvs_p": "p.Cys402Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352702.4",
"strand": false,
"transcript": "ENST00000359674.8",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 614,
"aa_ref": "C",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3294,
"cdna_start": 1663,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000397296.6",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1205G>T",
"hgvs_p": "p.Cys402Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380464.2",
"strand": false,
"transcript": "ENST00000397296.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 614,
"aa_ref": "C",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3332,
"cdna_start": 1760,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000424061.6",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1205G>T",
"hgvs_p": "p.Cys402Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399136.2",
"strand": false,
"transcript": "ENST00000424061.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 614,
"aa_ref": "C",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2101,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000536824.5",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1205G>T",
"hgvs_p": "p.Cys402Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444268.1",
"strand": false,
"transcript": "ENST00000536824.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 630,
"aa_ref": "C",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3177,
"cdna_start": 1554,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1253,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000965396.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1253G>T",
"hgvs_p": "p.Cys418Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635455.1",
"strand": false,
"transcript": "ENST00000965396.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 614,
"aa_ref": "C",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3166,
"cdna_start": 1539,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001122847.3",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1205G>T",
"hgvs_p": "p.Cys402Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001116319.1",
"strand": false,
"transcript": "NM_001122847.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 614,
"aa_ref": "C",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3125,
"cdna_start": 1498,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001206931.2",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1205G>T",
"hgvs_p": "p.Cys402Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001193860.1",
"strand": false,
"transcript": "NM_001206931.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 614,
"aa_ref": "C",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3751,
"cdna_start": 2124,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_003044.5",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1205G>T",
"hgvs_p": "p.Cys402Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003035.3",
"strand": false,
"transcript": "NM_003044.5",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 614,
"aa_ref": "C",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4007,
"cdna_start": 2407,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000855745.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1205G>T",
"hgvs_p": "p.Cys402Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525804.1",
"strand": false,
"transcript": "ENST00000855745.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 614,
"aa_ref": "C",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3100,
"cdna_start": 1473,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000855746.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1205G>T",
"hgvs_p": "p.Cys402Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525805.1",
"strand": false,
"transcript": "ENST00000855746.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 614,
"aa_ref": "C",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3110,
"cdna_start": 1485,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000855747.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1205G>T",
"hgvs_p": "p.Cys402Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525806.1",
"strand": false,
"transcript": "ENST00000855747.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 614,
"aa_ref": "C",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3217,
"cdna_start": 1591,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000855748.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1205G>T",
"hgvs_p": "p.Cys402Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525807.1",
"strand": false,
"transcript": "ENST00000855748.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 614,
"aa_ref": "C",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3127,
"cdna_start": 1504,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000855749.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1205G>T",
"hgvs_p": "p.Cys402Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525808.1",
"strand": false,
"transcript": "ENST00000855749.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 614,
"aa_ref": "C",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3069,
"cdna_start": 1443,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000855750.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1205G>T",
"hgvs_p": "p.Cys402Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525809.1",
"strand": false,
"transcript": "ENST00000855750.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 614,
"aa_ref": "C",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3057,
"cdna_start": 1430,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000855753.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1205G>T",
"hgvs_p": "p.Cys402Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525812.1",
"strand": false,
"transcript": "ENST00000855753.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_length": 614,
"aa_ref": "C",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3944,
"cdna_start": 2317,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000855754.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1205G>T",
"hgvs_p": "p.Cys402Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525813.1",
"strand": false,
"transcript": "ENST00000855754.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 614,
"aa_ref": "C",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000855755.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1205G>T",
"hgvs_p": "p.Cys402Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525814.1",
"strand": false,
"transcript": "ENST00000855755.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 614,
"aa_ref": "C",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3110,
"cdna_start": 1471,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000855756.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1205G>T",
"hgvs_p": "p.Cys402Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000525815.1",
"strand": false,
"transcript": "ENST00000855756.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 614,
"aa_ref": "C",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3090,
"cdna_start": 1468,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1205,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000855757.1",
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