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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: 1-150966808-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150966808&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CERS2",
"hgnc_id": 14076,
"hgvs_c": "c.796A>G",
"hgvs_p": "p.Ile266Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_022075.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 17,
"alphamissense_prediction": null,
"alphamissense_score": 0.0856,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13265478610992432,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 380,
"aa_ref": "I",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2323,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1143,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_022075.5",
"gene_hgnc_id": 14076,
"gene_symbol": "CERS2",
"hgvs_c": "c.796A>G",
"hgvs_p": "p.Ile266Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368954.10",
"protein_coding": true,
"protein_id": "NP_071358.1",
"strand": false,
"transcript": "NM_022075.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 380,
"aa_ref": "I",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2323,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1143,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000368954.10",
"gene_hgnc_id": 14076,
"gene_symbol": "CERS2",
"hgvs_c": "c.796A>G",
"hgvs_p": "p.Ile266Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022075.5",
"protein_coding": true,
"protein_id": "ENSP00000357950.5",
"strand": false,
"transcript": "ENST00000368954.10",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 227,
"aa_ref": "I",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1661,
"cdna_start": 339,
"cds_end": null,
"cds_length": 684,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000560793.6",
"gene_hgnc_id": 14076,
"gene_symbol": "CERS2",
"hgvs_c": "c.337A>G",
"hgvs_p": "p.Ile113Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453297.2",
"strand": false,
"transcript": "ENST00000560793.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 393,
"aa_ref": "I",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2213,
"cdna_start": 907,
"cds_end": null,
"cds_length": 1182,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000955084.1",
"gene_hgnc_id": 14076,
"gene_symbol": "CERS2",
"hgvs_c": "c.835A>G",
"hgvs_p": "p.Ile279Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625143.1",
"strand": false,
"transcript": "ENST00000955084.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 389,
"aa_ref": "I",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2213,
"cdna_start": 906,
"cds_end": null,
"cds_length": 1170,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000885841.1",
"gene_hgnc_id": 14076,
"gene_symbol": "CERS2",
"hgvs_c": "c.823A>G",
"hgvs_p": "p.Ile275Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555900.1",
"strand": false,
"transcript": "ENST00000885841.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 380,
"aa_ref": "I",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2363,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 1143,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_181746.4",
"gene_hgnc_id": 14076,
"gene_symbol": "CERS2",
"hgvs_c": "c.796A>G",
"hgvs_p": "p.Ile266Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_859530.1",
"strand": false,
"transcript": "NM_181746.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 380,
"aa_ref": "I",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2544,
"cdna_start": 1222,
"cds_end": null,
"cds_length": 1143,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000271688.10",
"gene_hgnc_id": 14076,
"gene_symbol": "CERS2",
"hgvs_c": "c.796A>G",
"hgvs_p": "p.Ile266Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000271688.6",
"strand": false,
"transcript": "ENST00000271688.10",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 380,
"aa_ref": "I",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2061,
"cdna_start": 847,
"cds_end": null,
"cds_length": 1143,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000885835.1",
"gene_hgnc_id": 14076,
"gene_symbol": "CERS2",
"hgvs_c": "c.796A>G",
"hgvs_p": "p.Ile266Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555894.1",
"strand": false,
"transcript": "ENST00000885835.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 380,
"aa_ref": "I",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2392,
"cdna_start": 1077,
"cds_end": null,
"cds_length": 1143,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000885836.1",
"gene_hgnc_id": 14076,
"gene_symbol": "CERS2",
"hgvs_c": "c.796A>G",
"hgvs_p": "p.Ile266Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555895.1",
"strand": false,
"transcript": "ENST00000885836.1",
"transcript_support_level": null
},
{
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"aa_length": 380,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2391,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 1143,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000885837.1",
"gene_hgnc_id": 14076,
"gene_symbol": "CERS2",
"hgvs_c": "c.796A>G",
"hgvs_p": "p.Ile266Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555896.1",
"strand": false,
"transcript": "ENST00000885837.1",
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},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2338,
"cdna_start": 1030,
"cds_end": null,
"cds_length": 1143,
"cds_start": 796,
"consequences": [
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],
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"feature": "ENST00000885848.1",
"gene_hgnc_id": 14076,
"gene_symbol": "CERS2",
"hgvs_c": "c.796A>G",
"hgvs_p": "p.Ile266Val",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555907.1",
"strand": false,
"transcript": "ENST00000885848.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 925,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000885849.1",
"gene_hgnc_id": 14076,
"gene_symbol": "CERS2",
"hgvs_c": "c.796A>G",
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"mane_plus": null,
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"protein_coding": true,
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"transcript": "ENST00000885849.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000885850.1",
"gene_hgnc_id": 14076,
"gene_symbol": "CERS2",
"hgvs_c": "c.796A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000555909.1",
"strand": false,
"transcript": "ENST00000885850.1",
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},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 11,
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"feature": "ENST00000885851.1",
"gene_hgnc_id": 14076,
"gene_symbol": "CERS2",
"hgvs_c": "c.796A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000555910.1",
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"transcript": "ENST00000885851.1",
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},
{
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"consequences": [
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],
"exon_count": 11,
"exon_rank": 9,
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"feature": "ENST00000885852.1",
"gene_hgnc_id": 14076,
"gene_symbol": "CERS2",
"hgvs_c": "c.796A>G",
"hgvs_p": "p.Ile266Val",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000555911.1",
"strand": false,
"transcript": "ENST00000885852.1",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_start": 945,
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"consequences": [
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],
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"exon_rank": 9,
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"feature": "ENST00000885853.1",
"gene_hgnc_id": 14076,
"gene_symbol": "CERS2",
"hgvs_c": "c.796A>G",
"hgvs_p": "p.Ile266Val",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000555912.1",
"strand": false,
"transcript": "ENST00000885853.1",
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},
{
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"aa_ref": "I",
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],
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"feature": "ENST00000885854.1",
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"transcript": "ENST00000885854.1",
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},
{
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],
"exon_count": 11,
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"feature": "ENST00000885855.1",
"gene_hgnc_id": 14076,
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"hgvs_p": "p.Ile266Val",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000555914.1",
"strand": false,
"transcript": "ENST00000885855.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 1156,
"cds_end": null,
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"consequences": [
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],
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"exon_rank": 9,
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"feature": "ENST00000911844.1",
"gene_hgnc_id": 14076,
"gene_symbol": "CERS2",
"hgvs_c": "c.796A>G",
"hgvs_p": "p.Ile266Val",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581903.1",
"strand": false,
"transcript": "ENST00000911844.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 380,
"aa_ref": "I",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2324,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 1143,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000911845.1",
"gene_hgnc_id": 14076,
"gene_symbol": "CERS2",
"hgvs_c": "c.796A>G",
"hgvs_p": "p.Ile266Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581904.1",
"strand": false,
"transcript": "ENST00000911845.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 380,
"aa_ref": "I",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2635,
"cdna_start": 1326,
"cds_end": null,
"cds_length": 1143,
"cds_start": 796,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000955081.1",
"gene_hgnc_id": 14076,
"gene_symbol": "CERS2",
"hgvs_c": "c.796A>G",
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