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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: 3-189310421-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=189310421&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TPRG1",
"hgnc_id": 24759,
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_198485.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0752,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "3",
"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": 0.045245349407196045,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5482,
"cdna_start": 685,
"cds_end": null,
"cds_length": 828,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_198485.4",
"gene_hgnc_id": 24759,
"gene_symbol": "TPRG1",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000345063.8",
"protein_coding": true,
"protein_id": "NP_940887.1",
"strand": true,
"transcript": "NM_198485.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5482,
"cdna_start": 685,
"cds_end": null,
"cds_length": 828,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000345063.8",
"gene_hgnc_id": 24759,
"gene_symbol": "TPRG1",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198485.4",
"protein_coding": true,
"protein_id": "ENSP00000341031.3",
"strand": true,
"transcript": "ENST00000345063.8",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2296,
"cdna_start": 1742,
"cds_end": null,
"cds_length": 828,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000433971.5",
"gene_hgnc_id": 24759,
"gene_symbol": "TPRG1",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412547.1",
"strand": true,
"transcript": "ENST00000433971.5",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4525,
"cdna_start": 1550,
"cds_end": null,
"cds_length": 828,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000867713.1",
"gene_hgnc_id": 24759,
"gene_symbol": "TPRG1",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537772.1",
"strand": true,
"transcript": "ENST00000867713.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3033,
"cdna_start": 2469,
"cds_end": null,
"cds_length": 828,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000867714.1",
"gene_hgnc_id": 24759,
"gene_symbol": "TPRG1",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537773.1",
"strand": true,
"transcript": "ENST00000867714.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 1738,
"cds_end": null,
"cds_length": 828,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000867715.1",
"gene_hgnc_id": 24759,
"gene_symbol": "TPRG1",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537774.1",
"strand": true,
"transcript": "ENST00000867715.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2534,
"cdna_start": 1977,
"cds_end": null,
"cds_length": 828,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000867716.1",
"gene_hgnc_id": 24759,
"gene_symbol": "TPRG1",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537775.1",
"strand": true,
"transcript": "ENST00000867716.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4300,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 828,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000867717.1",
"gene_hgnc_id": 24759,
"gene_symbol": "TPRG1",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537776.1",
"strand": true,
"transcript": "ENST00000867717.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1621,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 828,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000867719.1",
"gene_hgnc_id": 24759,
"gene_symbol": "TPRG1",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537778.1",
"strand": true,
"transcript": "ENST00000867719.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2068,
"cdna_start": 1516,
"cds_end": null,
"cds_length": 828,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000867720.1",
"gene_hgnc_id": 24759,
"gene_symbol": "TPRG1",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537779.1",
"strand": true,
"transcript": "ENST00000867720.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2023,
"cdna_start": 1466,
"cds_end": null,
"cds_length": 828,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000867721.1",
"gene_hgnc_id": 24759,
"gene_symbol": "TPRG1",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537780.1",
"strand": true,
"transcript": "ENST00000867721.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1466,
"cdna_start": 899,
"cds_end": null,
"cds_length": 828,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000867722.1",
"gene_hgnc_id": 24759,
"gene_symbol": "TPRG1",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537781.1",
"strand": true,
"transcript": "ENST00000867722.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2677,
"cdna_start": 568,
"cds_end": null,
"cds_length": 828,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000867723.1",
"gene_hgnc_id": 24759,
"gene_symbol": "TPRG1",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537782.1",
"strand": true,
"transcript": "ENST00000867723.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2940,
"cdna_start": 2376,
"cds_end": null,
"cds_length": 828,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000867724.1",
"gene_hgnc_id": 24759,
"gene_symbol": "TPRG1",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537783.1",
"strand": true,
"transcript": "ENST00000867724.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2886,
"cdna_start": 2330,
"cds_end": null,
"cds_length": 828,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000949786.1",
"gene_hgnc_id": 24759,
"gene_symbol": "TPRG1",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619845.1",
"strand": true,
"transcript": "ENST00000949786.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1999,
"cdna_start": 1442,
"cds_end": null,
"cds_length": 828,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000949787.1",
"gene_hgnc_id": 24759,
"gene_symbol": "TPRG1",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619846.1",
"strand": true,
"transcript": "ENST00000949787.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5888,
"cdna_start": 1092,
"cds_end": null,
"cds_length": 828,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000949788.1",
"gene_hgnc_id": 24759,
"gene_symbol": "TPRG1",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619847.1",
"strand": true,
"transcript": "ENST00000949788.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1797,
"cdna_start": 1246,
"cds_end": null,
"cds_length": 828,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000949789.1",
"gene_hgnc_id": 24759,
"gene_symbol": "TPRG1",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619848.1",
"strand": true,
"transcript": "ENST00000949789.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1555,
"cdna_start": 1002,
"cds_end": null,
"cds_length": 828,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000949790.1",
"gene_hgnc_id": 24759,
"gene_symbol": "TPRG1",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619849.1",
"strand": true,
"transcript": "ENST00000949790.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3544,
"cdna_start": 1455,
"cds_end": null,
"cds_length": 828,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000949791.1",
"gene_hgnc_id": 24759,
"gene_symbol": "TPRG1",
"hgvs_c": "c.515G>A",
"hgvs_p": "p.Ser172Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619850.1",
"strand": true,
"transcript": "ENST00000949791.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1133,
"cdna_start": 588,
"cds_end": null,
"cds_length": 828,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000949792.1",
"gene_hgnc_id": 24759,
"gene_symbol": "TPRG1",
"hgvs_c": "c.515G>A",
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{
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{
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],
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}
]
}