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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: 5-9053833-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=9053833&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SEMA5A",
"hgnc_id": 10736,
"hgvs_c": "c.2689+254G>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_003966.3",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "MIR4636",
"hgnc_id": 41798,
"hgvs_c": "n.63G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NR_039779.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1074,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11755,
"cdna_start": null,
"cds_end": null,
"cds_length": 3225,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003966.3",
"gene_hgnc_id": 10736,
"gene_symbol": "SEMA5A",
"hgvs_c": "c.2689+254G>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000382496.10",
"protein_coding": true,
"protein_id": "NP_003957.2",
"strand": false,
"transcript": "NM_003966.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1074,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11755,
"cdna_start": null,
"cds_end": null,
"cds_length": 3225,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000382496.10",
"gene_hgnc_id": 10736,
"gene_symbol": "SEMA5A",
"hgvs_c": "c.2689+254G>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003966.3",
"protein_coding": true,
"protein_id": "ENSP00000371936.5",
"strand": false,
"transcript": "ENST00000382496.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1074,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6362,
"cdna_start": null,
"cds_end": null,
"cds_length": 3225,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652226.1",
"gene_hgnc_id": 10736,
"gene_symbol": "SEMA5A",
"hgvs_c": "c.2689+254G>T",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499013.1",
"strand": false,
"transcript": "ENST00000652226.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1074,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8138,
"cdna_start": null,
"cds_end": null,
"cds_length": 3225,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897596.1",
"gene_hgnc_id": 10736,
"gene_symbol": "SEMA5A",
"hgvs_c": "c.2689+254G>T",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567655.1",
"strand": false,
"transcript": "ENST00000897596.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1074,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8103,
"cdna_start": null,
"cds_end": null,
"cds_length": 3225,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897597.1",
"gene_hgnc_id": 10736,
"gene_symbol": "SEMA5A",
"hgvs_c": "c.2689+254G>T",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567656.1",
"strand": false,
"transcript": "ENST00000897597.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1074,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6168,
"cdna_start": null,
"cds_end": null,
"cds_length": 3225,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897598.1",
"gene_hgnc_id": 10736,
"gene_symbol": "SEMA5A",
"hgvs_c": "c.2689+254G>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567657.1",
"strand": false,
"transcript": "ENST00000897598.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1074,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4777,
"cdna_start": null,
"cds_end": null,
"cds_length": 3225,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897599.1",
"gene_hgnc_id": 10736,
"gene_symbol": "SEMA5A",
"hgvs_c": "c.2689+254G>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567658.1",
"strand": false,
"transcript": "ENST00000897599.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1074,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4647,
"cdna_start": null,
"cds_end": null,
"cds_length": 3225,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000897601.1",
"gene_hgnc_id": 10736,
"gene_symbol": "SEMA5A",
"hgvs_c": "c.2689+254G>T",
"hgvs_p": null,
"intron_rank": 22,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567660.1",
"strand": false,
"transcript": "ENST00000897601.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4477,
"cdna_start": null,
"cds_end": null,
"cds_length": 3225,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
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"feature": "ENST00000897603.1",
"gene_hgnc_id": 10736,
"gene_symbol": "SEMA5A",
"hgvs_c": "c.2689+254G>T",
"hgvs_p": null,
"intron_rank": 18,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000567662.1",
"strand": false,
"transcript": "ENST00000897603.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_length": 4337,
"cdna_start": null,
"cds_end": null,
"cds_length": 3222,
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"consequences": [
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],
"exon_count": 23,
"exon_rank": null,
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"feature": "ENST00000897602.1",
"gene_hgnc_id": 10736,
"gene_symbol": "SEMA5A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000567661.1",
"strand": false,
"transcript": "ENST00000897602.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000957025.1",
"gene_hgnc_id": 10736,
"gene_symbol": "SEMA5A",
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},
{
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"consequences": [
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],
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"feature": "ENST00000897600.1",
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"gene_symbol": "SEMA5A",
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},
{
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],
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"feature": "XM_006714506.4",
"gene_hgnc_id": 10736,
"gene_symbol": "SEMA5A",
"hgvs_c": "c.2689+254G>T",
"hgvs_p": null,
"intron_rank": 20,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_006714569.1",
"strand": false,
"transcript": "XM_006714506.4",
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},
{
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],
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"feature": "XM_006714507.4",
"gene_hgnc_id": 10736,
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"hgvs_c": "c.2689+254G>T",
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},
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"consequences": [
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],
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"exon_rank": null,
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"feature": "XM_011514155.3",
"gene_hgnc_id": 10736,
"gene_symbol": "SEMA5A",
"hgvs_c": "c.2689+254G>T",
"hgvs_p": null,
"intron_rank": 19,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011512457.1",
"strand": false,
"transcript": "XM_011514155.3",
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},
{
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"consequences": [
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],
"exon_count": 25,
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"feature": "XM_011514156.3",
"gene_hgnc_id": 10736,
"gene_symbol": "SEMA5A",
"hgvs_c": "c.2689+254G>T",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011512458.1",
"strand": false,
"transcript": "XM_011514156.3",
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},
{
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],
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"feature": "XM_011514157.3",
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},
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],
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"feature": "XM_011514158.3",
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},
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],
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"gene_hgnc_id": 10736,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047273821.1",
"strand": false,
"transcript": "XM_047417865.1",
"transcript_support_level": null
},
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"consequences": [
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],
"exon_count": 25,
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"feature": "XM_047417866.1",
"gene_hgnc_id": 10736,
"gene_symbol": "SEMA5A",
"hgvs_c": "c.2689+254G>T",
"hgvs_p": null,
"intron_rank": 21,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047273822.1",
"strand": false,
"transcript": "XM_047417866.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 19,
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"feature": "XM_011514159.3",
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