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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: 11-66368591-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=66368591&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC29A2",
"hgnc_id": 11004,
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Gly166Ser",
"inheritance_mode": "AR",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001532.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 13,
"alphamissense_prediction": null,
"alphamissense_score": 0.8656,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.4,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9856017231941223,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 456,
"aa_ref": "G",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": 665,
"cds_end": null,
"cds_length": 1371,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001532.3",
"gene_hgnc_id": 11004,
"gene_symbol": "SLC29A2",
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Gly166Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357440.7",
"protein_coding": true,
"protein_id": "NP_001523.2",
"strand": false,
"transcript": "NM_001532.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 456,
"aa_ref": "G",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": 665,
"cds_end": null,
"cds_length": 1371,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000357440.7",
"gene_hgnc_id": 11004,
"gene_symbol": "SLC29A2",
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Gly166Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001532.3",
"protein_coding": true,
"protein_id": "ENSP00000350024.2",
"strand": false,
"transcript": "ENST00000357440.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 361,
"aa_ref": "G",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2262,
"cdna_start": 606,
"cds_end": null,
"cds_length": 1086,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000311161.11",
"gene_hgnc_id": 11004,
"gene_symbol": "SLC29A2",
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Gly166Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000311250.7",
"strand": false,
"transcript": "ENST00000311161.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2474,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000540386.5",
"gene_hgnc_id": 11004,
"gene_symbol": "SLC29A2",
"hgvs_c": "n.496G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000444870.1",
"strand": false,
"transcript": "ENST00000540386.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2272,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000541567.5",
"gene_hgnc_id": 11004,
"gene_symbol": "SLC29A2",
"hgvs_c": "n.428G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000442116.1",
"strand": false,
"transcript": "ENST00000541567.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 456,
"aa_ref": "G",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2686,
"cdna_start": 896,
"cds_end": null,
"cds_length": 1371,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001300868.2",
"gene_hgnc_id": 11004,
"gene_symbol": "SLC29A2",
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Gly166Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287797.1",
"strand": false,
"transcript": "NM_001300868.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 456,
"aa_ref": "G",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2505,
"cdna_start": 716,
"cds_end": null,
"cds_length": 1371,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000544554.5",
"gene_hgnc_id": 11004,
"gene_symbol": "SLC29A2",
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Gly166Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439456.1",
"strand": false,
"transcript": "ENST00000544554.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 456,
"aa_ref": "G",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2509,
"cdna_start": 721,
"cds_end": null,
"cds_length": 1371,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000546034.1",
"gene_hgnc_id": 11004,
"gene_symbol": "SLC29A2",
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Gly166Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440329.1",
"strand": false,
"transcript": "ENST00000546034.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 456,
"aa_ref": "G",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2720,
"cdna_start": 931,
"cds_end": null,
"cds_length": 1371,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000873641.1",
"gene_hgnc_id": 11004,
"gene_symbol": "SLC29A2",
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Gly166Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000543700.1",
"strand": false,
"transcript": "ENST00000873641.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 453,
"aa_ref": "G",
"aa_start": 163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2411,
"cdna_start": 621,
"cds_end": null,
"cds_length": 1362,
"cds_start": 487,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000932628.1",
"gene_hgnc_id": 11004,
"gene_symbol": "SLC29A2",
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Gly163Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602687.1",
"strand": false,
"transcript": "ENST00000932628.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 413,
"aa_ref": "R",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2313,
"cdna_start": 512,
"cds_end": null,
"cds_length": 1242,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000932627.1",
"gene_hgnc_id": 11004,
"gene_symbol": "SLC29A2",
"hgvs_c": "c.356G>A",
"hgvs_p": "p.Arg119Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602686.1",
"strand": false,
"transcript": "ENST00000932627.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 410,
"aa_ref": "G",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2349,
"cdna_start": 698,
"cds_end": null,
"cds_length": 1233,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000944719.1",
"gene_hgnc_id": 11004,
"gene_symbol": "SLC29A2",
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Gly166Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614778.1",
"strand": false,
"transcript": "ENST00000944719.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 398,
"aa_ref": "G",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2288,
"cdna_start": 672,
"cds_end": null,
"cds_length": 1197,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000932625.1",
"gene_hgnc_id": 11004,
"gene_symbol": "SLC29A2",
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Gly166Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602684.1",
"strand": false,
"transcript": "ENST00000932625.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 376,
"aa_ref": "G",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2157,
"cdna_start": 614,
"cds_end": null,
"cds_length": 1131,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000932622.1",
"gene_hgnc_id": 11004,
"gene_symbol": "SLC29A2",
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Gly166Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602681.1",
"strand": false,
"transcript": "ENST00000932622.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 376,
"aa_ref": "G",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2388,
"cdna_start": 838,
"cds_end": null,
"cds_length": 1131,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000932623.1",
"gene_hgnc_id": 11004,
"gene_symbol": "SLC29A2",
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Gly166Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602682.1",
"strand": false,
"transcript": "ENST00000932623.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 376,
"aa_ref": "G",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2198,
"cdna_start": 651,
"cds_end": null,
"cds_length": 1131,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000944718.1",
"gene_hgnc_id": 11004,
"gene_symbol": "SLC29A2",
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Gly166Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614777.1",
"strand": false,
"transcript": "ENST00000944718.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 361,
"aa_ref": "G",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2517,
"cdna_start": 861,
"cds_end": null,
"cds_length": 1086,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001300869.2",
"gene_hgnc_id": 11004,
"gene_symbol": "SLC29A2",
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Gly166Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287798.1",
"strand": false,
"transcript": "NM_001300869.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 361,
"aa_ref": "G",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2380,
"cdna_start": 725,
"cds_end": null,
"cds_length": 1086,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000619145.4",
"gene_hgnc_id": 11004,
"gene_symbol": "SLC29A2",
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Gly166Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000481944.1",
"strand": false,
"transcript": "ENST00000619145.4",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 472,
"aa_ref": "G",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1784,
"cdna_start": 861,
"cds_end": null,
"cds_length": 1419,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047426860.1",
"gene_hgnc_id": 11004,
"gene_symbol": "SLC29A2",
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Gly166Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282816.1",
"strand": false,
"transcript": "XM_047426860.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 472,
"aa_ref": "G",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1952,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1419,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047426861.1",
"gene_hgnc_id": 11004,
"gene_symbol": "SLC29A2",
"hgvs_c": "c.496G>A",
"hgvs_p": "p.Gly166Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282817.1",
"strand": false,
"transcript": "XM_047426861.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 456,
"aa_ref": "G",
"aa_start": 166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2651,
"cdna_start": 861,
"cds_end": null,
"cds_length": 1371,
"cds_start": 496,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017017632.2",
"gene_hgnc_id": 11004,
"gene_symbol": "SLC29A2",
"hgvs_c": "c.496G>A",
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}