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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: 2-156476134-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=156476134&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GPD2",
"hgnc_id": 4456,
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Thr10Lys",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_000408.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.3769,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.31368106603622437,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 727,
"aa_ref": "T",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5812,
"cdna_start": 172,
"cds_end": null,
"cds_length": 2184,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_000408.5",
"gene_hgnc_id": 4456,
"gene_symbol": "GPD2",
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Thr10Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000438166.7",
"protein_coding": true,
"protein_id": "NP_000399.3",
"strand": true,
"transcript": "NM_000408.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 727,
"aa_ref": "T",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5812,
"cdna_start": 172,
"cds_end": null,
"cds_length": 2184,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000438166.7",
"gene_hgnc_id": 4456,
"gene_symbol": "GPD2",
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Thr10Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000408.5",
"protein_coding": true,
"protein_id": "ENSP00000409708.2",
"strand": true,
"transcript": "ENST00000438166.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 727,
"aa_ref": "T",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6041,
"cdna_start": 401,
"cds_end": null,
"cds_length": 2184,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000310454.10",
"gene_hgnc_id": 4456,
"gene_symbol": "GPD2",
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Thr10Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000308610.5",
"strand": true,
"transcript": "ENST00000310454.10",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 727,
"aa_ref": "T",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5930,
"cdna_start": 290,
"cds_end": null,
"cds_length": 2184,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001083112.3",
"gene_hgnc_id": 4456,
"gene_symbol": "GPD2",
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Thr10Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001076581.2",
"strand": true,
"transcript": "NM_001083112.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 727,
"aa_ref": "T",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2397,
"cdna_start": 102,
"cds_end": null,
"cds_length": 2184,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000409674.5",
"gene_hgnc_id": 4456,
"gene_symbol": "GPD2",
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Thr10Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386425.1",
"strand": true,
"transcript": "ENST00000409674.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 727,
"aa_ref": "T",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3625,
"cdna_start": 297,
"cds_end": null,
"cds_length": 2184,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000893602.1",
"gene_hgnc_id": 4456,
"gene_symbol": "GPD2",
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Thr10Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563661.1",
"strand": true,
"transcript": "ENST00000893602.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 727,
"aa_ref": "T",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3624,
"cdna_start": 275,
"cds_end": null,
"cds_length": 2184,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893603.1",
"gene_hgnc_id": 4456,
"gene_symbol": "GPD2",
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Thr10Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563662.1",
"strand": true,
"transcript": "ENST00000893603.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 727,
"aa_ref": "T",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3573,
"cdna_start": 245,
"cds_end": null,
"cds_length": 2184,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893604.1",
"gene_hgnc_id": 4456,
"gene_symbol": "GPD2",
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Thr10Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563663.1",
"strand": true,
"transcript": "ENST00000893604.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 727,
"aa_ref": "T",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3612,
"cdna_start": 284,
"cds_end": null,
"cds_length": 2184,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000893605.1",
"gene_hgnc_id": 4456,
"gene_symbol": "GPD2",
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Thr10Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563664.1",
"strand": true,
"transcript": "ENST00000893605.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 727,
"aa_ref": "T",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3592,
"cdna_start": 264,
"cds_end": null,
"cds_length": 2184,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893606.1",
"gene_hgnc_id": 4456,
"gene_symbol": "GPD2",
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Thr10Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563665.1",
"strand": true,
"transcript": "ENST00000893606.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 727,
"aa_ref": "T",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2809,
"cdna_start": 354,
"cds_end": null,
"cds_length": 2184,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000893609.1",
"gene_hgnc_id": 4456,
"gene_symbol": "GPD2",
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Thr10Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563668.1",
"strand": true,
"transcript": "ENST00000893609.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 727,
"aa_ref": "T",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5545,
"cdna_start": 154,
"cds_end": null,
"cds_length": 2184,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000893610.1",
"gene_hgnc_id": 4456,
"gene_symbol": "GPD2",
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Thr10Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563669.1",
"strand": true,
"transcript": "ENST00000893610.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 727,
"aa_ref": "T",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3417,
"cdna_start": 89,
"cds_end": null,
"cds_length": 2184,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000893611.1",
"gene_hgnc_id": 4456,
"gene_symbol": "GPD2",
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Thr10Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563670.1",
"strand": true,
"transcript": "ENST00000893611.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 694,
"aa_ref": "T",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2708,
"cdna_start": 168,
"cds_end": null,
"cds_length": 2085,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000893608.1",
"gene_hgnc_id": 4456,
"gene_symbol": "GPD2",
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Thr10Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563667.1",
"strand": true,
"transcript": "ENST00000893608.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 674,
"aa_ref": "T",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3341,
"cdna_start": 172,
"cds_end": null,
"cds_length": 2025,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000893607.1",
"gene_hgnc_id": 4456,
"gene_symbol": "GPD2",
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Thr10Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563666.1",
"strand": true,
"transcript": "ENST00000893607.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 108,
"aa_ref": "T",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 456,
"cdna_start": 157,
"cds_end": null,
"cds_length": 328,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000415049.5",
"gene_hgnc_id": 4456,
"gene_symbol": "GPD2",
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Thr10Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412621.1",
"strand": true,
"transcript": "ENST00000415049.5",
"transcript_support_level": 4
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 727,
"aa_ref": "T",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5742,
"cdna_start": 102,
"cds_end": null,
"cds_length": 2184,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_005246469.3",
"gene_hgnc_id": 4456,
"gene_symbol": "GPD2",
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Thr10Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005246526.1",
"strand": true,
"transcript": "XM_005246469.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 727,
"aa_ref": "T",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5797,
"cdna_start": 157,
"cds_end": null,
"cds_length": 2184,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_011510977.3",
"gene_hgnc_id": 4456,
"gene_symbol": "GPD2",
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Thr10Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509279.1",
"strand": true,
"transcript": "XM_011510977.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 727,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5914,
"cdna_start": 274,
"cds_end": null,
"cds_length": 2184,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017003830.2",
"gene_hgnc_id": 4456,
"gene_symbol": "GPD2",
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Thr10Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016859319.1",
"strand": true,
"transcript": "XM_017003830.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 727,
"aa_ref": "T",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5770,
"cdna_start": 130,
"cds_end": null,
"cds_length": 2184,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_024452798.2",
"gene_hgnc_id": 4456,
"gene_symbol": "GPD2",
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Thr10Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024308566.1",
"strand": true,
"transcript": "XM_024452798.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 727,
"aa_ref": "T",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5966,
"cdna_start": 326,
"cds_end": null,
"cds_length": 2184,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047443963.1",
"gene_hgnc_id": 4456,
"gene_symbol": "GPD2",
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Thr10Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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