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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: 2-27207555-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27207555&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC5A6",
"hgnc_id": 11041,
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Phe32Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_021095.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8401,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2965632677078247,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 635,
"aa_ref": "F",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3213,
"cdna_start": 552,
"cds_end": null,
"cds_length": 1908,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_021095.4",
"gene_hgnc_id": 11041,
"gene_symbol": "SLC5A6",
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Phe32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000310574.8",
"protein_coding": true,
"protein_id": "NP_066918.2",
"strand": false,
"transcript": "NM_021095.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 635,
"aa_ref": "F",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3213,
"cdna_start": 552,
"cds_end": null,
"cds_length": 1908,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000310574.8",
"gene_hgnc_id": 11041,
"gene_symbol": "SLC5A6",
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Phe32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021095.4",
"protein_coding": true,
"protein_id": "ENSP00000310208.3",
"strand": false,
"transcript": "ENST00000310574.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 635,
"aa_ref": "F",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2230,
"cdna_start": 418,
"cds_end": null,
"cds_length": 1908,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000408041.5",
"gene_hgnc_id": 11041,
"gene_symbol": "SLC5A6",
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Phe32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384853.1",
"strand": false,
"transcript": "ENST00000408041.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 646,
"aa_ref": "F",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3241,
"cdna_start": 547,
"cds_end": null,
"cds_length": 1941,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892752.1",
"gene_hgnc_id": 11041,
"gene_symbol": "SLC5A6",
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Phe32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562811.1",
"strand": false,
"transcript": "ENST00000892752.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 635,
"aa_ref": "F",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3149,
"cdna_start": 488,
"cds_end": null,
"cds_length": 1908,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892748.1",
"gene_hgnc_id": 11041,
"gene_symbol": "SLC5A6",
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Phe32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562807.1",
"strand": false,
"transcript": "ENST00000892748.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 635,
"aa_ref": "F",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3281,
"cdna_start": 620,
"cds_end": null,
"cds_length": 1908,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000892751.1",
"gene_hgnc_id": 11041,
"gene_symbol": "SLC5A6",
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Phe32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562810.1",
"strand": false,
"transcript": "ENST00000892751.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 635,
"aa_ref": "F",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": 505,
"cds_end": null,
"cds_length": 1908,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892753.1",
"gene_hgnc_id": 11041,
"gene_symbol": "SLC5A6",
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Phe32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562812.1",
"strand": false,
"transcript": "ENST00000892753.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 635,
"aa_ref": "F",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3033,
"cdna_start": 377,
"cds_end": null,
"cds_length": 1908,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892754.1",
"gene_hgnc_id": 11041,
"gene_symbol": "SLC5A6",
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Phe32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562813.1",
"strand": false,
"transcript": "ENST00000892754.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 635,
"aa_ref": "F",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3083,
"cdna_start": 422,
"cds_end": null,
"cds_length": 1908,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000892755.1",
"gene_hgnc_id": 11041,
"gene_symbol": "SLC5A6",
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Phe32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562814.1",
"strand": false,
"transcript": "ENST00000892755.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 635,
"aa_ref": "F",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3064,
"cdna_start": 403,
"cds_end": null,
"cds_length": 1908,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000892756.1",
"gene_hgnc_id": 11041,
"gene_symbol": "SLC5A6",
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Phe32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562815.1",
"strand": false,
"transcript": "ENST00000892756.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 635,
"aa_ref": "F",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3417,
"cdna_start": 759,
"cds_end": null,
"cds_length": 1908,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000892757.1",
"gene_hgnc_id": 11041,
"gene_symbol": "SLC5A6",
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Phe32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562816.1",
"strand": false,
"transcript": "ENST00000892757.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 635,
"aa_ref": "F",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3028,
"cdna_start": 367,
"cds_end": null,
"cds_length": 1908,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000926531.1",
"gene_hgnc_id": 11041,
"gene_symbol": "SLC5A6",
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Phe32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596590.1",
"strand": false,
"transcript": "ENST00000926531.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 635,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 524,
"cds_end": null,
"cds_length": 1908,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000926534.1",
"gene_hgnc_id": 11041,
"gene_symbol": "SLC5A6",
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Phe32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596593.1",
"strand": false,
"transcript": "ENST00000926534.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 635,
"aa_ref": "F",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3204,
"cdna_start": 543,
"cds_end": null,
"cds_length": 1908,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000926537.1",
"gene_hgnc_id": 11041,
"gene_symbol": "SLC5A6",
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Phe32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596596.1",
"strand": false,
"transcript": "ENST00000926537.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 635,
"aa_ref": "F",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3415,
"cdna_start": 756,
"cds_end": null,
"cds_length": 1908,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000962472.1",
"gene_hgnc_id": 11041,
"gene_symbol": "SLC5A6",
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Phe32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632531.1",
"strand": false,
"transcript": "ENST00000962472.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 635,
"aa_ref": "F",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3195,
"cdna_start": 538,
"cds_end": null,
"cds_length": 1908,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000962473.1",
"gene_hgnc_id": 11041,
"gene_symbol": "SLC5A6",
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Phe32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632532.1",
"strand": false,
"transcript": "ENST00000962473.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 635,
"aa_ref": "F",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3350,
"cdna_start": 695,
"cds_end": null,
"cds_length": 1908,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000962474.1",
"gene_hgnc_id": 11041,
"gene_symbol": "SLC5A6",
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Phe32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632533.1",
"strand": false,
"transcript": "ENST00000962474.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 635,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3059,
"cdna_start": 400,
"cds_end": null,
"cds_length": 1908,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000962475.1",
"gene_hgnc_id": 11041,
"gene_symbol": "SLC5A6",
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Phe32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632534.1",
"strand": false,
"transcript": "ENST00000962475.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 634,
"aa_ref": "F",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3206,
"cdna_start": 548,
"cds_end": null,
"cds_length": 1905,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000926529.1",
"gene_hgnc_id": 11041,
"gene_symbol": "SLC5A6",
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Phe32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596588.1",
"strand": false,
"transcript": "ENST00000926529.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 605,
"aa_ref": "F",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3128,
"cdna_start": 557,
"cds_end": null,
"cds_length": 1818,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000892750.1",
"gene_hgnc_id": 11041,
"gene_symbol": "SLC5A6",
"hgvs_c": "c.96C>G",
"hgvs_p": "p.Phe32Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562809.1",
"strand": false,
"transcript": "ENST00000892750.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 605,
"aa_ref": "F",
"aa_start": 32,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3083,
"cdna_start": 514,
"cds_end": null,
"cds_length": 1818,
"cds_start": 96,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000926528.1",
"gene_hgnc_id": 11041,
"gene_symbol": "SLC5A6",
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