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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: 6-83692088-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=83692088&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "SNAP91",
"hgnc_id": 14986,
"hgvs_c": "c.130+15710C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_014841.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 55198,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "6",
"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": 907,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4422,
"cdna_start": null,
"cds_end": null,
"cds_length": 2724,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001242792.2",
"gene_hgnc_id": 14986,
"gene_symbol": "SNAP91",
"hgvs_c": "c.130+15710C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369694.7",
"protein_coding": true,
"protein_id": "NP_001229721.1",
"strand": false,
"transcript": "NM_001242792.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 907,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4422,
"cdna_start": null,
"cds_end": null,
"cds_length": 2724,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369694.7",
"gene_hgnc_id": 14986,
"gene_symbol": "SNAP91",
"hgvs_c": "c.130+15710C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001242792.2",
"protein_coding": true,
"protein_id": "ENSP00000358708.2",
"strand": false,
"transcript": "ENST00000369694.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 877,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4136,
"cdna_start": null,
"cds_end": null,
"cds_length": 2634,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000520302.5",
"gene_hgnc_id": 14986,
"gene_symbol": "SNAP91",
"hgvs_c": "c.130+15710C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428511.1",
"strand": false,
"transcript": "ENST00000520302.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 600,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": null,
"cds_end": null,
"cds_length": 1803,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000520213.5",
"gene_hgnc_id": 14986,
"gene_symbol": "SNAP91",
"hgvs_c": "c.130+15710C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428026.1",
"strand": false,
"transcript": "ENST00000520213.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4493,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000518312.5",
"gene_hgnc_id": 14986,
"gene_symbol": "SNAP91",
"hgvs_c": "n.131-1652C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000429937.1",
"strand": false,
"transcript": "ENST00000518312.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 907,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4437,
"cdna_start": null,
"cds_end": null,
"cds_length": 2724,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014841.3",
"gene_hgnc_id": 14986,
"gene_symbol": "SNAP91",
"hgvs_c": "c.130+15710C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055656.1",
"strand": false,
"transcript": "NM_014841.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 907,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4452,
"cdna_start": null,
"cds_end": null,
"cds_length": 2724,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000439399.6",
"gene_hgnc_id": 14986,
"gene_symbol": "SNAP91",
"hgvs_c": "c.130+15710C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400459.2",
"strand": false,
"transcript": "ENST00000439399.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 907,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4263,
"cdna_start": null,
"cds_end": null,
"cds_length": 2724,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000521743.5",
"gene_hgnc_id": 14986,
"gene_symbol": "SNAP91",
"hgvs_c": "c.130+15710C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428215.1",
"strand": false,
"transcript": "ENST00000521743.5",
"transcript_support_level": 5
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4431,
"cdna_start": null,
"cds_end": null,
"cds_length": 2718,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376675.1",
"gene_hgnc_id": 14986,
"gene_symbol": "SNAP91",
"hgvs_c": "c.130+15710C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363604.1",
"strand": false,
"transcript": "NM_001376675.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 2718,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001376676.1",
"gene_hgnc_id": 14986,
"gene_symbol": "SNAP91",
"hgvs_c": "c.130+15710C>T",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363605.1",
"strand": false,
"transcript": "NM_001376676.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 29,
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"feature": "NM_001376677.1",
"gene_hgnc_id": 14986,
"gene_symbol": "SNAP91",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001363606.1",
"strand": false,
"transcript": "NM_001376677.1",
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},
{
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"consequences": [
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],
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"feature": "NM_001376678.1",
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"protein_coding": true,
"protein_id": "NP_001363607.1",
"strand": false,
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},
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],
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"feature": "NM_001376679.1",
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"protein_id": "NP_001363608.1",
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},
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"consequences": [
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],
"exon_count": 29,
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"feature": "NM_001376680.1",
"gene_hgnc_id": 14986,
"gene_symbol": "SNAP91",
"hgvs_c": "c.130+15710C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001363609.1",
"strand": false,
"transcript": "NM_001376680.1",
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},
{
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"consequences": [
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],
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"feature": "NM_001376681.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001363610.1",
"strand": false,
"transcript": "NM_001376681.1",
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},
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"consequences": [
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],
"exon_count": 29,
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"feature": "NM_001376682.1",
"gene_hgnc_id": 14986,
"gene_symbol": "SNAP91",
"hgvs_c": "c.130+15710C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001363611.1",
"strand": false,
"transcript": "NM_001376682.1",
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},
{
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],
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"feature": "ENST00000948470.1",
"gene_hgnc_id": 14986,
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"hgvs_c": "c.130+15710C>T",
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},
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],
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"feature": "NM_001376683.1",
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},
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],
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"feature": "NM_001376684.1",
"gene_hgnc_id": 14986,
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"strand": false,
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},
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"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
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"feature": "NM_001363677.2",
"gene_hgnc_id": 14986,
"gene_symbol": "SNAP91",
"hgvs_c": "c.130+15710C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001350606.1",
"strand": false,
"transcript": "NM_001363677.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 30,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000195649.10",
"gene_hgnc_id": 14986,
"gene_symbol": "SNAP91",
"hgvs_c": "c.130+15710C>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000195649.6",
"strand": false,
"transcript": "ENST00000195649.10",
"transcript_support_level": 5
},
{
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}
]
}