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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: 21-33537914-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=33537914&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GART",
"hgnc_id": 4163,
"hgvs_c": "c.145+1257A>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_000819.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "21",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1010,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3318,
"cdna_start": null,
"cds_end": null,
"cds_length": 3033,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000819.5",
"gene_hgnc_id": 4163,
"gene_symbol": "GART",
"hgvs_c": "c.145+1257A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000381815.9",
"protein_coding": true,
"protein_id": "NP_000810.1",
"strand": false,
"transcript": "NM_000819.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1010,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3318,
"cdna_start": null,
"cds_end": null,
"cds_length": 3033,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000381815.9",
"gene_hgnc_id": 4163,
"gene_symbol": "GART",
"hgvs_c": "c.145+1257A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000819.5",
"protein_coding": true,
"protein_id": "ENSP00000371236.4",
"strand": false,
"transcript": "ENST00000381815.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1010,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3490,
"cdna_start": null,
"cds_end": null,
"cds_length": 3033,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000381831.7",
"gene_hgnc_id": 4163,
"gene_symbol": "GART",
"hgvs_c": "c.145+1257A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371253.3",
"strand": false,
"transcript": "ENST00000381831.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1010,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3469,
"cdna_start": null,
"cds_end": null,
"cds_length": 3033,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000381839.7",
"gene_hgnc_id": 4163,
"gene_symbol": "GART",
"hgvs_c": "c.145+1257A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371261.3",
"strand": false,
"transcript": "ENST00000381839.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 433,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2149,
"cdna_start": null,
"cds_end": null,
"cds_length": 1302,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361093.9",
"gene_hgnc_id": 4163,
"gene_symbol": "GART",
"hgvs_c": "c.145+1257A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354388.5",
"strand": false,
"transcript": "ENST00000361093.9",
"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": 3571,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000424203.5",
"gene_hgnc_id": 4163,
"gene_symbol": "GART",
"hgvs_c": "n.145+1257A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000390003.1",
"strand": false,
"transcript": "ENST00000424203.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1019,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3316,
"cdna_start": null,
"cds_end": null,
"cds_length": 3060,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880381.1",
"gene_hgnc_id": 4163,
"gene_symbol": "GART",
"hgvs_c": "c.145+1257A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550440.1",
"strand": false,
"transcript": "ENST00000880381.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1010,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3537,
"cdna_start": null,
"cds_end": null,
"cds_length": 3033,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001136005.1",
"gene_hgnc_id": 4163,
"gene_symbol": "GART",
"hgvs_c": "c.145+1257A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129477.1",
"strand": false,
"transcript": "NM_001136005.1",
"transcript_support_level": null
},
{
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"aa_length": 1010,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3500,
"cdna_start": null,
"cds_end": null,
"cds_length": 3033,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001136006.1",
"gene_hgnc_id": 4163,
"gene_symbol": "GART",
"hgvs_c": "c.145+1257A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129478.1",
"strand": false,
"transcript": "NM_001136006.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1010,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3323,
"cdna_start": null,
"cds_end": null,
"cds_length": 3033,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880373.1",
"gene_hgnc_id": 4163,
"gene_symbol": "GART",
"hgvs_c": "c.145+1257A>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550432.1",
"strand": false,
"transcript": "ENST00000880373.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000880374.1",
"gene_hgnc_id": 4163,
"gene_symbol": "GART",
"hgvs_c": "c.145+1257A>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000550433.1",
"strand": false,
"transcript": "ENST00000880374.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 4093,
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"consequences": [
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],
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"feature": "ENST00000880375.1",
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"protein_coding": true,
"protein_id": "ENSP00000550434.1",
"strand": false,
"transcript": "ENST00000880375.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000880376.1",
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"protein_coding": true,
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"strand": false,
"transcript": "ENST00000880376.1",
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},
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"consequences": [
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],
"exon_count": 22,
"exon_rank": null,
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"feature": "ENST00000880377.1",
"gene_hgnc_id": 4163,
"gene_symbol": "GART",
"hgvs_c": "c.145+1257A>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000550436.1",
"strand": false,
"transcript": "ENST00000880377.1",
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},
{
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"consequences": [
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],
"exon_count": 22,
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"feature": "ENST00000880379.1",
"gene_hgnc_id": 4163,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000550438.1",
"strand": false,
"transcript": "ENST00000880379.1",
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},
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"consequences": [
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],
"exon_count": 22,
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"feature": "ENST00000880382.1",
"gene_hgnc_id": 4163,
"gene_symbol": "GART",
"hgvs_c": "c.145+1257A>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000550441.1",
"strand": false,
"transcript": "ENST00000880382.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
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"feature": "ENST00000880383.1",
"gene_hgnc_id": 4163,
"gene_symbol": "GART",
"hgvs_c": "c.145+1257A>T",
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"mane_plus": null,
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"protein_coding": true,
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},
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],
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"feature": "ENST00000880378.1",
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},
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],
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"feature": "ENST00000880380.1",
"gene_hgnc_id": 4163,
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},
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"consequences": [
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],
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"feature": "ENST00000962328.1",
"gene_hgnc_id": 4163,
"gene_symbol": "GART",
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"protein_coding": true,
"protein_id": "ENSP00000632387.1",
"strand": false,
"transcript": "ENST00000962328.1",
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},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
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"feature": "ENST00000880386.1",
"gene_hgnc_id": 4163,
"gene_symbol": "GART",
"hgvs_c": "c.145+1257A>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000550445.1",
"strand": false,
"transcript": "ENST00000880386.1",
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},
{
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