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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: 17-42322395-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42322395&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "STAT3",
"hgnc_id": 11364,
"hgvs_c": "c.1988C>T",
"hgvs_p": "p.Thr663Ile",
"inheritance_mode": "AD",
"pathogenic_score": 14,
"score": 14,
"transcript": "NM_139276.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate,PP5_Very_Strong",
"acmg_score": 14,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9936,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "17",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "STAT3-related early-onset multisystem autoimmune disease,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8427475690841675,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 770,
"aa_ref": "T",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4921,
"cdna_start": 2175,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1988,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_139276.3",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1988C>T",
"hgvs_p": "p.Thr663Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264657.10",
"protein_coding": true,
"protein_id": "NP_644805.1",
"strand": false,
"transcript": "NM_139276.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 770,
"aa_ref": "T",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4921,
"cdna_start": 2175,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1988,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000264657.10",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1988C>T",
"hgvs_p": "p.Thr663Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_139276.3",
"protein_coding": true,
"protein_id": "ENSP00000264657.4",
"strand": false,
"transcript": "ENST00000264657.10",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 770,
"aa_ref": "T",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2772,
"cdna_start": 2193,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1988,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000588969.5",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1988C>T",
"hgvs_p": "p.Thr663Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467985.1",
"strand": false,
"transcript": "ENST00000588969.5",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 769,
"aa_ref": "T",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2633,
"cdna_start": 2125,
"cds_end": null,
"cds_length": 2310,
"cds_start": 1988,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000404395.3",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1988C>T",
"hgvs_p": "p.Thr663Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384943.3",
"strand": false,
"transcript": "ENST00000404395.3",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 802,
"aa_ref": "T",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4911,
"cdna_start": 2262,
"cds_end": null,
"cds_length": 2409,
"cds_start": 2084,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000677421.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.2084C>T",
"hgvs_p": "p.Thr695Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503599.1",
"strand": false,
"transcript": "ENST00000677421.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 802,
"aa_ref": "T",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3460,
"cdna_start": 2238,
"cds_end": null,
"cds_length": 2409,
"cds_start": 2084,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000858559.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.2084C>T",
"hgvs_p": "p.Thr695Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528618.1",
"strand": false,
"transcript": "ENST00000858559.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 802,
"aa_ref": "T",
"aa_start": 695,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3502,
"cdna_start": 2284,
"cds_end": null,
"cds_length": 2409,
"cds_start": 2084,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000943790.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.2084C>T",
"hgvs_p": "p.Thr695Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613849.1",
"strand": false,
"transcript": "ENST00000943790.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 779,
"aa_ref": "T",
"aa_start": 672,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4925,
"cdna_start": 2179,
"cds_end": null,
"cds_length": 2340,
"cds_start": 2015,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000922766.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.2015C>T",
"hgvs_p": "p.Thr672Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592825.1",
"strand": false,
"transcript": "ENST00000922766.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 775,
"aa_ref": "T",
"aa_start": 668,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4842,
"cdna_start": 2193,
"cds_end": null,
"cds_length": 2328,
"cds_start": 2003,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000678792.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.2003C>T",
"hgvs_p": "p.Thr668Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504435.1",
"strand": false,
"transcript": "ENST00000678792.1",
"transcript_support_level": null
},
{
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"aa_length": 775,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4839,
"cdna_start": 2190,
"cds_end": null,
"cds_length": 2328,
"cds_start": 2003,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000678913.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.2003C>T",
"hgvs_p": "p.Thr668Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504609.1",
"strand": false,
"transcript": "ENST00000678913.1",
"transcript_support_level": null
},
{
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"aa_length": 775,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3425,
"cdna_start": 2203,
"cds_end": null,
"cds_length": 2328,
"cds_start": 2003,
"consequences": [
"missense_variant"
],
"exon_count": 24,
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"exon_rank_end": null,
"feature": "ENST00000858553.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.2003C>T",
"hgvs_p": "p.Thr668Ile",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528612.1",
"strand": false,
"transcript": "ENST00000858553.1",
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},
{
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"aa_ref": "T",
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"cdna_start": 2215,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000858554.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.2003C>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": "ENST00000922763.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.2003C>T",
"hgvs_p": "p.Thr668Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592822.1",
"strand": false,
"transcript": "ENST00000922763.1",
"transcript_support_level": null
},
{
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"aa_ref": "T",
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"cdna_end": null,
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"cdna_start": 2220,
"cds_end": null,
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"consequences": [
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],
"exon_count": 24,
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"exon_rank_end": null,
"feature": "ENST00000943782.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.2003C>T",
"hgvs_p": "p.Thr668Ile",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000613841.1",
"strand": false,
"transcript": "ENST00000943782.1",
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},
{
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"cdna_end": null,
"cdna_length": 4899,
"cdna_start": 2153,
"cds_end": null,
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"cds_start": 1988,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001369512.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1988C>T",
"hgvs_p": "p.Thr663Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356441.1",
"strand": false,
"transcript": "NM_001369512.1",
"transcript_support_level": null
},
{
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"aa_ref": "T",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4902,
"cdna_start": 2156,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1988,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001369513.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1988C>T",
"hgvs_p": "p.Thr663Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356442.1",
"strand": false,
"transcript": "NM_001369513.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_ref": "T",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 24,
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"feature": "ENST00000678044.1",
"gene_hgnc_id": 11364,
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"hgvs_c": "c.1988C>T",
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"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000503102.1",
"strand": false,
"transcript": "ENST00000678044.1",
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},
{
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"consequences": [
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],
"exon_count": 25,
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"feature": "ENST00000678906.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000504184.1",
"strand": false,
"transcript": "ENST00000678906.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000678960.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1988C>T",
"hgvs_p": "p.Thr663Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503181.1",
"strand": false,
"transcript": "ENST00000678960.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 770,
"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4940,
"cdna_start": 2282,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1988,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000715205.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1988C>T",
"hgvs_p": "p.Thr663Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520412.1",
"strand": false,
"transcript": "ENST00000715205.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
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"aa_ref": "T",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3492,
"cdna_start": 2274,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1988,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
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"splice_source_selected": "max_spliceai",
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"transcript": "NM_139276.3"
}
]
}