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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: 5-168177231-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=168177231&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 168177231,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000518659.6",
"consequences": [
{
"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": 31,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.2570-13106G>A",
"hgvs_p": null,
"transcript": "NM_001395460.1",
"protein_id": "NP_001382389.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2774,
"cds_start": -4,
"cds_end": null,
"cds_length": 8325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10356,
"mane_select": "ENST00000518659.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.2570-13106G>A",
"hgvs_p": null,
"transcript": "ENST00000518659.6",
"protein_id": "ENSP00000429430.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2774,
"cds_start": -4,
"cds_end": null,
"cds_length": 8325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10356,
"mane_select": "NM_001395460.1",
"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": 25,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.1874-13106G>A",
"hgvs_p": null,
"transcript": "ENST00000520394.5",
"protein_id": "ENSP00000427874.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2535,
"cds_start": -4,
"cds_end": null,
"cds_length": 7608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8034,
"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": 30,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.2543-13106G>A",
"hgvs_p": null,
"transcript": "NM_001122679.2",
"protein_id": "NP_001116151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2765,
"cds_start": -4,
"cds_end": null,
"cds_length": 8298,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9834,
"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": 28,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.2207-13106G>A",
"hgvs_p": null,
"transcript": "ENST00000519204.5",
"protein_id": "ENSP00000428964.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2653,
"cds_start": -4,
"cds_end": null,
"cds_length": 7962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9427,
"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": 27,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.2114-13106G>A",
"hgvs_p": null,
"transcript": "NM_001368145.1",
"protein_id": "NP_001355074.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2615,
"cds_start": -4,
"cds_end": null,
"cds_length": 7848,
"cdna_start": null,
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"cdna_length": 9517,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.2087-13106G>A",
"hgvs_p": null,
"transcript": "NM_001368146.1",
"protein_id": "NP_001355075.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 2613,
"cds_start": -4,
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"cds_length": 7842,
"cdna_start": null,
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"cdna_length": 9511,
"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": 28,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.2087-13106G>A",
"hgvs_p": null,
"transcript": "ENST00000695886.1",
"protein_id": "ENSP00000512239.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2613,
"cds_start": -4,
"cds_end": null,
"cds_length": 7842,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9500,
"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": 28,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TENM2",
"gene_hgnc_id": 29943,
"hgvs_c": "c.1979-13106G>A",
"hgvs_p": null,
"transcript": "ENST00000695961.1",
"protein_id": "ENSP00000512289.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2577,
"cds_start": -4,
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"cds_length": 7734,
"cdna_start": null,
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"mane_select": null,
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},
{
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"protein_coding": true,
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "TENM2",
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"hgvs_c": "c.1874-13106G>A",
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"transcript": "NM_001080428.3",
"protein_id": "NP_001073897.2",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "TENM2",
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"hgvs_c": "c.1355-13106G>A",
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"transcript": "ENST00000695962.1",
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},
{
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],
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"gene_symbol": "ENSG00000253925",
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},
{
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],
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},
{
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],
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},
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],
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},
{
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],
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],
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},
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],
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],
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"gene_symbol": "TENM2",
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],
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"gene_symbol": "TENM2",
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"hgvs_c": "c.2360-13106G>A",
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},
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],
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"gene_symbol": "TENM2",
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"hgvs_c": "c.2357-13106G>A",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.079,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000518659.6",
"gene_symbol": "TENM2",
"hgnc_id": 29943,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2570-13106G>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000517408.1",
"gene_symbol": "ENSG00000253925",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1673+7904C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}