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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: 5-110739161-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=110739161&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 110739161,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_138773.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A46",
"gene_hgnc_id": 25198,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Tyr14Tyr",
"transcript": "NM_138773.4",
"protein_id": "NP_620128.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 418,
"cds_start": 42,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 155,
"cdna_end": null,
"cdna_length": 4745,
"mane_select": "ENST00000355943.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A46",
"gene_hgnc_id": 25198,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Tyr14Tyr",
"transcript": "ENST00000355943.8",
"protein_id": "ENSP00000348211.3",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 418,
"cds_start": 42,
"cds_end": null,
"cds_length": 1257,
"cdna_start": 155,
"cdna_end": null,
"cdna_length": 4745,
"mane_select": "NM_138773.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A46",
"gene_hgnc_id": 25198,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Tyr14Tyr",
"transcript": "NM_001303249.3",
"protein_id": "NP_001290178.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 337,
"cds_start": 42,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 155,
"cdna_end": null,
"cdna_length": 4502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A46",
"gene_hgnc_id": 25198,
"hgvs_c": "c.42C>T",
"hgvs_p": "p.Tyr14Tyr",
"transcript": "ENST00000447245.6",
"protein_id": "ENSP00000399717.2",
"transcript_support_level": 2,
"aa_start": 14,
"aa_end": null,
"aa_length": 337,
"cds_start": 42,
"cds_end": null,
"cds_length": 1014,
"cdna_start": 121,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A46",
"gene_hgnc_id": 25198,
"hgvs_c": "n.155C>T",
"hgvs_p": null,
"transcript": "NR_138151.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC25A46",
"gene_hgnc_id": 25198,
"hgvs_c": "c.10+914C>T",
"hgvs_p": null,
"transcript": "NM_001303250.3",
"protein_id": "NP_001290179.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 327,
"cds_start": -4,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC25A46",
"gene_hgnc_id": 25198,
"hgvs_c": "c.-204+914C>T",
"hgvs_p": null,
"transcript": "ENST00000513807.5",
"protein_id": "ENSP00000421134.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 256,
"cds_start": -4,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC25A46",
"gene_hgnc_id": 25198,
"hgvs_c": "n.112+914C>T",
"hgvs_p": null,
"transcript": "ENST00000508781.5",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.-737G>A",
"hgvs_p": null,
"transcript": "ENST00000515278.6",
"protein_id": "ENSP00000421614.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": -4,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "n.-243G>A",
"hgvs_p": null,
"transcript": "ENST00000503527.6",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.-737G>A",
"hgvs_p": null,
"transcript": "XM_006714670.4",
"protein_id": "XP_006714733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 657,
"cds_start": -4,
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"cds_length": 1974,
"cdna_start": null,
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"cdna_length": 3588,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.-1088G>A",
"hgvs_p": null,
"transcript": "XM_011543552.3",
"protein_id": "XP_011541854.1",
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.-1008G>A",
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"transcript": "XM_011543555.3",
"protein_id": "XP_011541857.1",
"transcript_support_level": null,
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"cds_start": -4,
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"cds_length": 1917,
"cdna_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "TMEM232",
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"hgvs_c": "c.-1088G>A",
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"transcript": "XM_011543557.3",
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},
{
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"strand": true,
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"upstream_gene_variant"
],
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"gene_symbol": "TMEM232",
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"hgvs_c": "c.-1088G>A",
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"transcript": "XM_017009705.3",
"protein_id": "XP_016865194.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "TMEM232",
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"hgvs_c": "c.-1088G>A",
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"transcript": "XM_047417491.1",
"protein_id": "XP_047273447.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.-1088G>A",
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"transcript": "XM_011543559.3",
"protein_id": "XP_011541861.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.-1088G>A",
"hgvs_p": null,
"transcript": "XM_047417492.1",
"protein_id": "XP_047273448.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "TMEM232",
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"hgvs_c": "c.-954G>A",
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"transcript": "XM_047417493.1",
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},
{
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],
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"gene_symbol": "TMEM232",
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"hgvs_c": "c.-1088G>A",
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},
{
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"strand": true,
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],
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"intron_rank": null,
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"gene_symbol": "TMEM232",
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"hgvs_c": "c.-1088G>A",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.-1088G>A",
"hgvs_p": null,
"transcript": "XM_017009706.3",
"protein_id": "XP_016865195.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM232",
"gene_hgnc_id": 37270,
"hgvs_c": "c.-1088G>A",
"hgvs_p": null,
"transcript": "XM_011543563.3",
"protein_id": "XP_011541865.1",
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"cdna_start": null,
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}
],
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"computational_score_selected": -0.33000001311302185,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.575,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -9,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_138773.4",
"gene_symbol": "SLC25A46",
"hgnc_id": 25198,
"effects": [
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],
"inheritance_mode": "AR,AD",
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"hgvs_p": "p.Tyr14Tyr"
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{
"score": -4,
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"criteria": [
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"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000503527.6",
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],
"inheritance_mode": "AR",
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}
],
"clinvar_disease": " hereditary motor and sensory, type 6B,Neuropathy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Neuropathy, hereditary motor and sensory, type 6B",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}