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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: 17-42329511-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42329511&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "STAT3",
"hgnc_id": 11364,
"hgvs_c": "c.1233+43C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_139276.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_score": -12,
"allele_count_reference_population": 45,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.77,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7699999809265137,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 770,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4921,
"cdna_start": null,
"cds_end": null,
"cds_length": 2313,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_139276.3",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1233+43C>T",
"hgvs_p": null,
"intron_rank": 13,
"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": null,
"aa_end": null,
"aa_length": 770,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4921,
"cdna_start": null,
"cds_end": null,
"cds_length": 2313,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000264657.10",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1233+43C>T",
"hgvs_p": null,
"intron_rank": 13,
"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": null,
"aa_end": null,
"aa_length": 770,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2772,
"cdna_start": null,
"cds_end": null,
"cds_length": 2313,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000588969.5",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1233+43C>T",
"hgvs_p": null,
"intron_rank": 13,
"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": null,
"aa_end": null,
"aa_length": 769,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2633,
"cdna_start": null,
"cds_end": null,
"cds_length": 2310,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000404395.3",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1233+43C>T",
"hgvs_p": null,
"intron_rank": 13,
"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": "W",
"aa_end": null,
"aa_length": 802,
"aa_ref": "R",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4911,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 2409,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000677421.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Arg426Trp",
"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": "W",
"aa_end": null,
"aa_length": 802,
"aa_ref": "R",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3460,
"cdna_start": 1430,
"cds_end": null,
"cds_length": 2409,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000858559.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Arg426Trp",
"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": "W",
"aa_end": null,
"aa_length": 802,
"aa_ref": "R",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3502,
"cdna_start": 1476,
"cds_end": null,
"cds_length": 2409,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000943790.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1276C>T",
"hgvs_p": "p.Arg426Trp",
"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": null,
"aa_end": null,
"aa_length": 779,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4925,
"cdna_start": null,
"cds_end": null,
"cds_length": 2340,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922766.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1234-27C>T",
"hgvs_p": null,
"intron_rank": 13,
"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": null,
"aa_end": null,
"aa_length": 775,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4842,
"cdna_start": null,
"cds_end": null,
"cds_length": 2328,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000678792.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1248+43C>T",
"hgvs_p": null,
"intron_rank": 13,
"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_end": null,
"aa_length": 775,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4839,
"cdna_start": null,
"cds_end": null,
"cds_length": 2328,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000678913.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1248+43C>T",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"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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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 2328,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
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"feature": "ENST00000858553.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1248+43C>T",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528612.1",
"strand": false,
"transcript": "ENST00000858553.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_start": null,
"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.1248+43C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000528613.1",
"strand": false,
"transcript": "ENST00000858554.1",
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},
{
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],
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"feature": "ENST00000922763.1",
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"hgvs_c": "c.1248+43C>T",
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"protein_coding": true,
"protein_id": "ENSP00000592822.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 24,
"exon_rank": null,
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"feature": "ENST00000943782.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1248+43C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000613841.1",
"strand": false,
"transcript": "ENST00000943782.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 24,
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"feature": "NM_001369512.1",
"gene_hgnc_id": 11364,
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"hgvs_c": "c.1233+43C>T",
"hgvs_p": null,
"intron_rank": 13,
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"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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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369513.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1233+43C>T",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001356442.1",
"strand": false,
"transcript": "NM_001369513.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4912,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000678044.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1233+43C>T",
"hgvs_p": null,
"intron_rank": 13,
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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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],
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"feature": "ENST00000678906.1",
"gene_hgnc_id": 11364,
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"hgvs_c": "c.1233+43C>T",
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"mane_plus": null,
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"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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],
"exon_count": 25,
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"feature": "ENST00000678960.1",
"gene_hgnc_id": 11364,
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"hgvs_c": "c.1233+43C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000503181.1",
"strand": false,
"transcript": "ENST00000678960.1",
"transcript_support_level": null
},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000715205.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1233+43C>T",
"hgvs_p": null,
"intron_rank": 13,
"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
},
{
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"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3492,
"cdna_start": null,
"cds_end": null,
"cds_length": 2313,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943797.1",
"gene_hgnc_id": 11364,
"gene_symbol": "STAT3",
"hgvs_c": "c.1233+43C>T",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613856.1",
"strand": false,
"transcript": "ENST00000943797.1",
"transcript_support_level": null
},
{
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