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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: 16-11553576-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=11553576&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM1",
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LITAF",
"hgnc_id": 16841,
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"inheritance_mode": "AD",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_004862.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM1,PM2,PP3_Moderate,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.8836,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.44,
"chr": "16",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease type 1C,Inborn genetic diseases,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:11 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.920353353023529,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 161,
"aa_ref": "G",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2440,
"cdna_start": 373,
"cds_end": null,
"cds_length": 486,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001136472.2",
"gene_hgnc_id": 16841,
"gene_symbol": "LITAF",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000622633.5",
"protein_coding": true,
"protein_id": "NP_001129944.1",
"strand": false,
"transcript": "NM_001136472.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 161,
"aa_ref": "G",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2440,
"cdna_start": 373,
"cds_end": null,
"cds_length": 486,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000622633.5",
"gene_hgnc_id": 16841,
"gene_symbol": "LITAF",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001136472.2",
"protein_coding": true,
"protein_id": "ENSP00000483114.1",
"strand": false,
"transcript": "ENST00000622633.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 161,
"aa_ref": "G",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 567,
"cds_end": null,
"cds_length": 486,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000339430.9",
"gene_hgnc_id": 16841,
"gene_symbol": "LITAF",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340118.5",
"strand": false,
"transcript": "ENST00000339430.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 161,
"aa_ref": "G",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1118,
"cdna_start": 436,
"cds_end": null,
"cds_length": 486,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000570904.5",
"gene_hgnc_id": 16841,
"gene_symbol": "LITAF",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459138.1",
"strand": false,
"transcript": "ENST00000570904.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 161,
"aa_ref": "G",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3479,
"cdna_start": 565,
"cds_end": null,
"cds_length": 486,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000571688.6",
"gene_hgnc_id": 16841,
"gene_symbol": "LITAF",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000459533.1",
"strand": false,
"transcript": "ENST00000571688.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 172,
"aa_ref": "G",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2242,
"cdna_start": 420,
"cds_end": null,
"cds_length": 519,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000928733.1",
"gene_hgnc_id": 16841,
"gene_symbol": "LITAF",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598792.1",
"strand": false,
"transcript": "ENST00000928733.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 161,
"aa_ref": "G",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2472,
"cdna_start": 405,
"cds_end": null,
"cds_length": 486,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_004862.4",
"gene_hgnc_id": 16841,
"gene_symbol": "LITAF",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004853.2",
"strand": false,
"transcript": "NM_004862.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 161,
"aa_ref": "G",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 717,
"cdna_start": 554,
"cds_end": null,
"cds_length": 486,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000574763.5",
"gene_hgnc_id": 16841,
"gene_symbol": "LITAF",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461813.1",
"strand": false,
"transcript": "ENST00000574763.5",
"transcript_support_level": 3
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 161,
"aa_ref": "G",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 603,
"cdna_start": 427,
"cds_end": null,
"cds_length": 486,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000576036.5",
"gene_hgnc_id": 16841,
"gene_symbol": "LITAF",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461667.1",
"strand": false,
"transcript": "ENST00000576036.5",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 161,
"aa_ref": "G",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2745,
"cdna_start": 678,
"cds_end": null,
"cds_length": 486,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000888115.1",
"gene_hgnc_id": 16841,
"gene_symbol": "LITAF",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558174.1",
"strand": false,
"transcript": "ENST00000888115.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 161,
"aa_ref": "G",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2393,
"cdna_start": 605,
"cds_end": null,
"cds_length": 486,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000888116.1",
"gene_hgnc_id": 16841,
"gene_symbol": "LITAF",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558175.1",
"strand": false,
"transcript": "ENST00000888116.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 161,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1970,
"cdna_start": 760,
"cds_end": null,
"cds_length": 486,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 5,
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"exon_rank_end": null,
"feature": "ENST00000888117.1",
"gene_hgnc_id": 16841,
"gene_symbol": "LITAF",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558176.1",
"strand": false,
"transcript": "ENST00000888117.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1047,
"cdna_start": 419,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 4,
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"feature": "ENST00000888118.1",
"gene_hgnc_id": 16841,
"gene_symbol": "LITAF",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558177.1",
"strand": false,
"transcript": "ENST00000888118.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 161,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1663,
"cdna_start": 453,
"cds_end": null,
"cds_length": 486,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000888119.1",
"gene_hgnc_id": 16841,
"gene_symbol": "LITAF",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558178.1",
"strand": false,
"transcript": "ENST00000888119.1",
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},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2328,
"cdna_start": 543,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000888120.1",
"gene_hgnc_id": 16841,
"gene_symbol": "LITAF",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558179.1",
"strand": false,
"transcript": "ENST00000888120.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 161,
"aa_ref": "G",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2255,
"cdna_start": 467,
"cds_end": null,
"cds_length": 486,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000888121.1",
"gene_hgnc_id": 16841,
"gene_symbol": "LITAF",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558180.1",
"strand": false,
"transcript": "ENST00000888121.1",
"transcript_support_level": null
},
{
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"aa_length": 161,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1620,
"cdna_start": 410,
"cds_end": null,
"cds_length": 486,
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"consequences": [
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],
"exon_count": 5,
"exon_rank": 4,
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"feature": "ENST00000888122.1",
"gene_hgnc_id": 16841,
"gene_symbol": "LITAF",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000558181.1",
"strand": false,
"transcript": "ENST00000888122.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 5,
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"exon_rank_end": null,
"feature": "ENST00000888123.1",
"gene_hgnc_id": 16841,
"gene_symbol": "LITAF",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558182.1",
"strand": false,
"transcript": "ENST00000888123.1",
"transcript_support_level": null
},
{
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"aa_ref": "G",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 399,
"cds_end": null,
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"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
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"feature": "ENST00000888124.1",
"gene_hgnc_id": 16841,
"gene_symbol": "LITAF",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558183.1",
"strand": false,
"transcript": "ENST00000888124.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 161,
"aa_ref": "G",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2586,
"cdna_start": 794,
"cds_end": null,
"cds_length": 486,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000928730.1",
"gene_hgnc_id": 16841,
"gene_symbol": "LITAF",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598789.1",
"strand": false,
"transcript": "ENST00000928730.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 161,
"aa_ref": "G",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1754,
"cdna_start": 550,
"cds_end": null,
"cds_length": 486,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000928731.1",
"gene_hgnc_id": 16841,
"gene_symbol": "LITAF",
"hgvs_c": "c.334G>A",
"hgvs_p": "p.Gly112Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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