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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: 12-191132-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=191132&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC6A12",
"hgnc_id": 11045,
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_003044.5",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000255671",
"hgnc_id": null,
"hgvs_c": "n.457-514C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -6,
"transcript": "ENST00000841163.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_score": -6,
"allele_count_reference_population": 114,
"alphamissense_prediction": null,
"alphamissense_score": 0.069,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"chr": "12",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.008605748414993286,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3210,
"cdna_start": 2159,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001122848.3",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"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": "Q",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3210,
"cdna_start": 2159,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000684302.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"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": "Q",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3165,
"cdna_start": 2110,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000359674.8",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"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": "Q",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3294,
"cdna_start": 2239,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000397296.6",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"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": "Q",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3332,
"cdna_start": 2336,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000424061.6",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"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": "Q",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2101,
"cdna_start": 2037,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000536824.5",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"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": "Q",
"aa_end": null,
"aa_length": 630,
"aa_ref": "R",
"aa_start": 610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3177,
"cdna_start": 2130,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1829,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000965396.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1829G>A",
"hgvs_p": "p.Arg610Gln",
"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": "Q",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3166,
"cdna_start": 2115,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001122847.3",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"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": "Q",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3125,
"cdna_start": 2074,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001206931.2",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"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": "Q",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3751,
"cdna_start": 2700,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_003044.5",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"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": "Q",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4007,
"cdna_start": 2983,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000855745.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"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": "Q",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3100,
"cdna_start": 2049,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000855746.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"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": "Q",
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"aa_length": 614,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3110,
"cdna_start": 2061,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000855747.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"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": "Q",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3217,
"cdna_start": 2167,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000855748.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"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": "Q",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3127,
"cdna_start": 2080,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000855749.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"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": "Q",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3069,
"cdna_start": 2019,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000855750.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"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": "Q",
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"aa_length": 614,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3057,
"cdna_start": 2006,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000855753.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"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": "Q",
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"aa_length": 614,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3944,
"cdna_start": 2893,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000855754.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"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": "Q",
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"aa_length": 614,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 2135,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000855755.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"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": "Q",
"aa_end": null,
"aa_length": 614,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3110,
"cdna_start": 2047,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1781,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000855756.1",
"gene_hgnc_id": 11045,
"gene_symbol": "SLC6A12",
"hgvs_c": "c.1781G>A",
"hgvs_p": "p.Arg594Gln",
"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": "Q",
"aa_end": null,
"aa_length": 614,
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