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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: 21-45515761-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=45515761&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC19A1",
"hgnc_id": 10937,
"hgvs_c": "c.1673C>T",
"hgvs_p": "p.Ala558Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_194255.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0748,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "21",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0785435140132904,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 591,
"aa_ref": "A",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4991,
"cdna_start": 1795,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1673,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_194255.4",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1673C>T",
"hgvs_p": "p.Ala558Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000311124.9",
"protein_coding": true,
"protein_id": "NP_919231.1",
"strand": false,
"transcript": "NM_194255.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 591,
"aa_ref": "A",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4991,
"cdna_start": 1795,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1673,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000311124.9",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1673C>T",
"hgvs_p": "p.Ala558Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_194255.4",
"protein_coding": true,
"protein_id": "ENSP00000308895.4",
"strand": false,
"transcript": "ENST00000311124.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 545,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2029,
"cdna_start": null,
"cds_end": null,
"cds_length": 1638,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000567670.5",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1293+10056C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457278.1",
"strand": false,
"transcript": "ENST00000567670.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 489,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1884,
"cdna_start": null,
"cds_end": null,
"cds_length": 1470,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000380010.8",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1294-609C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369347.4",
"strand": false,
"transcript": "ENST00000380010.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 268,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3572,
"cdna_start": null,
"cds_end": null,
"cds_length": 807,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000417954.5",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.495+10056C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393988.1",
"strand": false,
"transcript": "ENST00000417954.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 575,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2851,
"cdna_start": 1808,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1724,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859479.1",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1724C>T",
"hgvs_p": "p.Ala575Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529538.1",
"strand": false,
"transcript": "ENST00000859479.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 591,
"aa_ref": "A",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4978,
"cdna_start": 1782,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1673,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001352512.2",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1673C>T",
"hgvs_p": "p.Ala558Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001339441.1",
"strand": false,
"transcript": "NM_001352512.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 591,
"aa_ref": "A",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2879,
"cdna_start": 2262,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1673,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859469.1",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1673C>T",
"hgvs_p": "p.Ala558Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529528.1",
"strand": false,
"transcript": "ENST00000859469.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 591,
"aa_ref": "A",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6401,
"cdna_start": 2170,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1673,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000859470.1",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1673C>T",
"hgvs_p": "p.Ala558Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529529.1",
"strand": false,
"transcript": "ENST00000859470.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 591,
"aa_ref": "A",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3400,
"cdna_start": 2355,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1673,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000859471.1",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1673C>T",
"hgvs_p": "p.Ala558Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529530.1",
"strand": false,
"transcript": "ENST00000859471.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 591,
"aa_ref": "A",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3293,
"cdna_start": 2243,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1673,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000859472.1",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1673C>T",
"hgvs_p": "p.Ala558Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529531.1",
"strand": false,
"transcript": "ENST00000859472.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 591,
"aa_ref": "A",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6494,
"cdna_start": 4439,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1673,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859473.1",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1673C>T",
"hgvs_p": "p.Ala558Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529532.1",
"strand": false,
"transcript": "ENST00000859473.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 591,
"aa_ref": "A",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5033,
"cdna_start": 2994,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1673,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000859474.1",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1673C>T",
"hgvs_p": "p.Ala558Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529533.1",
"strand": false,
"transcript": "ENST00000859474.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 591,
"aa_ref": "A",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3239,
"cdna_start": 2192,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1673,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000859475.1",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1673C>T",
"hgvs_p": "p.Ala558Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529534.1",
"strand": false,
"transcript": "ENST00000859475.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 591,
"aa_ref": "A",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3862,
"cdna_start": 1876,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1673,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000859477.1",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1673C>T",
"hgvs_p": "p.Ala558Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529536.1",
"strand": false,
"transcript": "ENST00000859477.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 591,
"aa_ref": "A",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3001,
"cdna_start": 1951,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1673,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000859480.1",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1673C>T",
"hgvs_p": "p.Ala558Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529539.1",
"strand": false,
"transcript": "ENST00000859480.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 591,
"aa_ref": "A",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4011,
"cdna_start": 2025,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1673,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000859481.1",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1673C>T",
"hgvs_p": "p.Ala558Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529540.1",
"strand": false,
"transcript": "ENST00000859481.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 591,
"aa_ref": "A",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5003,
"cdna_start": 1790,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1673,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000930844.1",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1673C>T",
"hgvs_p": "p.Ala558Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600903.1",
"strand": false,
"transcript": "ENST00000930844.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 591,
"aa_ref": "A",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2811,
"cdna_start": 1761,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1673,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000930845.1",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1673C>T",
"hgvs_p": "p.Ala558Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600904.1",
"strand": false,
"transcript": "ENST00000930845.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 591,
"aa_ref": "A",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3925,
"cdna_start": 1890,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1673,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000930846.1",
"gene_hgnc_id": 10937,
"gene_symbol": "SLC19A1",
"hgvs_c": "c.1673C>T",
"hgvs_p": "p.Ala558Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600905.1",
"strand": false,
"transcript": "ENST00000930846.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 591,
"aa_ref": "A",
"aa_start": 558,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": 1792,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1673,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000930848.1",
"gene_hgnc_id": 10937,
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