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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: 17-82781636-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82781636&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TBCD",
"hgnc_id": 11581,
"hgvs_c": "c.686T>G",
"hgvs_p": "p.Leu229Arg",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_005993.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 15,
"alphamissense_prediction": null,
"alphamissense_score": 0.7427,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.31,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8984286785125732,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "L",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7159,
"cdna_start": 815,
"cds_end": null,
"cds_length": 3579,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_005993.5",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.686T>G",
"hgvs_p": "p.Leu229Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355528.9",
"protein_coding": true,
"protein_id": "NP_005984.3",
"strand": true,
"transcript": "NM_005993.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1192,
"aa_ref": "L",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7159,
"cdna_start": 815,
"cds_end": null,
"cds_length": 3579,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000355528.9",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.686T>G",
"hgvs_p": "p.Leu229Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005993.5",
"protein_coding": true,
"protein_id": "ENSP00000347719.4",
"strand": true,
"transcript": "ENST00000355528.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1281,
"aa_ref": "L",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7403,
"cdna_start": 806,
"cds_end": null,
"cds_length": 3846,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000684760.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.686T>G",
"hgvs_p": "p.Leu229Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507696.1",
"strand": true,
"transcript": "ENST00000684760.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1254,
"aa_ref": "L",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7322,
"cdna_start": 806,
"cds_end": null,
"cds_length": 3765,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000684349.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.686T>G",
"hgvs_p": "p.Leu229Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508067.1",
"strand": true,
"transcript": "ENST00000684349.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1230,
"aa_ref": "L",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3975,
"cdna_start": 722,
"cds_end": null,
"cds_length": 3693,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000539345.6",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.686T>G",
"hgvs_p": "p.Leu229Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440671.2",
"strand": true,
"transcript": "ENST00000539345.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1224,
"aa_ref": "L",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4253,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 3675,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000857311.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.686T>G",
"hgvs_p": "p.Leu229Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527370.1",
"strand": true,
"transcript": "ENST00000857311.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1223,
"aa_ref": "L",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7252,
"cdna_start": 829,
"cds_end": null,
"cds_length": 3672,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000684464.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.686T>G",
"hgvs_p": "p.Leu229Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508333.1",
"strand": true,
"transcript": "ENST00000684464.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1222,
"aa_ref": "L",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7258,
"cdna_start": 928,
"cds_end": null,
"cds_length": 3669,
"cds_start": 776,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000682479.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.776T>G",
"hgvs_p": "p.Leu259Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508214.1",
"strand": true,
"transcript": "ENST00000682479.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1220,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7100,
"cdna_start": 770,
"cds_end": null,
"cds_length": 3663,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000684000.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.770T>G",
"hgvs_p": "p.Leu257Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506795.1",
"strand": true,
"transcript": "ENST00000684000.1",
"transcript_support_level": null
},
{
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"aa_length": 1207,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3999,
"cdna_start": 764,
"cds_end": null,
"cds_length": 3624,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000959286.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Leu212Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629345.1",
"strand": true,
"transcript": "ENST00000959286.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3974,
"cdna_start": 814,
"cds_end": null,
"cds_length": 3612,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 7,
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"feature": "ENST00000959289.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.686T>G",
"hgvs_p": "p.Leu229Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629348.1",
"strand": true,
"transcript": "ENST00000959289.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 806,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000857314.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.686T>G",
"hgvs_p": "p.Leu229Arg",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000527373.1",
"strand": true,
"transcript": "ENST00000857314.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 39,
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"feature": "ENST00000857310.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.686T>G",
"hgvs_p": "p.Leu229Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527369.1",
"strand": true,
"transcript": "ENST00000857310.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3956,
"cdna_start": 815,
"cds_end": null,
"cds_length": 3591,
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"consequences": [
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],
"exon_count": 38,
"exon_rank": 7,
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"feature": "ENST00000959287.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.686T>G",
"hgvs_p": "p.Leu229Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000629346.1",
"strand": true,
"transcript": "ENST00000959287.1",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000915788.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.686T>G",
"hgvs_p": "p.Leu229Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585847.1",
"strand": true,
"transcript": "ENST00000915788.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7108,
"cdna_start": 764,
"cds_end": null,
"cds_length": 3528,
"cds_start": 635,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001411101.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Leu212Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398030.1",
"strand": true,
"transcript": "NM_001411101.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 38,
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"feature": "ENST00000682722.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000508364.1",
"strand": true,
"transcript": "ENST00000682722.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
"missense_variant"
],
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"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000684429.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.614T>G",
"hgvs_p": "p.Leu205Arg",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000507224.1",
"strand": true,
"transcript": "ENST00000684429.1",
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},
{
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"cdna_start": 815,
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"consequences": [
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],
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"feature": "NM_001411102.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.686T>G",
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"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398031.1",
"strand": true,
"transcript": "NM_001411102.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7072,
"cdna_start": 823,
"cds_end": null,
"cds_length": 3498,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000684544.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
"hgvs_c": "c.686T>G",
"hgvs_p": "p.Leu229Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507337.1",
"strand": true,
"transcript": "ENST00000684544.1",
"transcript_support_level": null
},
{
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"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7064,
"cdna_start": 818,
"cds_end": null,
"cds_length": 3495,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000683282.1",
"gene_hgnc_id": 11581,
"gene_symbol": "TBCD",
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