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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: X-46463210-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=46463210&ref=C&alt=G&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": "KRABD4",
"hgnc_id": 26007,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001129898.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KRBOX4",
"hgnc_id": 26007,
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000487081.1",
"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": 0.1591,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09072050452232361,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 171,
"aa_ref": "A",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2334,
"cdna_start": 346,
"cds_end": null,
"cds_length": 516,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001129898.2",
"gene_hgnc_id": 26007,
"gene_symbol": "KRABD4",
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000344302.9",
"protein_coding": true,
"protein_id": "NP_001123370.1",
"strand": true,
"transcript": "NM_001129898.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 171,
"aa_ref": "A",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2334,
"cdna_start": 346,
"cds_end": null,
"cds_length": 516,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000344302.9",
"gene_hgnc_id": 26007,
"gene_symbol": "KRBOX4",
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001129898.2",
"protein_coding": true,
"protein_id": "ENSP00000345797.4",
"strand": true,
"transcript": "ENST00000344302.9",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 98,
"aa_ref": "A",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1247,
"cdna_start": 263,
"cds_end": null,
"cds_length": 297,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000487081.1",
"gene_hgnc_id": 26007,
"gene_symbol": "KRBOX4",
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418076.1",
"strand": true,
"transcript": "ENST00000487081.1",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 179,
"aa_ref": "A",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2347,
"cdna_start": 385,
"cds_end": null,
"cds_length": 540,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000942305.1",
"gene_hgnc_id": 26007,
"gene_symbol": "KRBOX4",
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ala65Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612364.1",
"strand": true,
"transcript": "ENST00000942305.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 178,
"aa_ref": "A",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1938,
"cdna_start": 407,
"cds_end": null,
"cds_length": 537,
"cds_start": 194,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000932356.1",
"gene_hgnc_id": 26007,
"gene_symbol": "KRBOX4",
"hgvs_c": "c.194C>G",
"hgvs_p": "p.Ala65Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602415.1",
"strand": true,
"transcript": "ENST00000932356.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 171,
"aa_ref": "A",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2241,
"cdna_start": 342,
"cds_end": null,
"cds_length": 516,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000901197.1",
"gene_hgnc_id": 26007,
"gene_symbol": "KRBOX4",
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571256.1",
"strand": true,
"transcript": "ENST00000901197.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 171,
"aa_ref": "A",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1892,
"cdna_start": 325,
"cds_end": null,
"cds_length": 516,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000901199.1",
"gene_hgnc_id": 26007,
"gene_symbol": "KRBOX4",
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571258.1",
"strand": true,
"transcript": "ENST00000901199.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 171,
"aa_ref": "A",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2050,
"cdna_start": 1166,
"cds_end": null,
"cds_length": 516,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901202.1",
"gene_hgnc_id": 26007,
"gene_symbol": "KRBOX4",
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571261.1",
"strand": true,
"transcript": "ENST00000901202.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 171,
"aa_ref": "A",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1410,
"cdna_start": 655,
"cds_end": null,
"cds_length": 516,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000901205.1",
"gene_hgnc_id": 26007,
"gene_symbol": "KRBOX4",
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571264.1",
"strand": true,
"transcript": "ENST00000901205.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 171,
"aa_ref": "A",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1291,
"cdna_start": 472,
"cds_end": null,
"cds_length": 516,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000932357.1",
"gene_hgnc_id": 26007,
"gene_symbol": "KRBOX4",
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602416.1",
"strand": true,
"transcript": "ENST00000932357.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 170,
"aa_ref": "A",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2236,
"cdna_start": 366,
"cds_end": null,
"cds_length": 513,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000901198.1",
"gene_hgnc_id": 26007,
"gene_symbol": "KRBOX4",
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571257.1",
"strand": true,
"transcript": "ENST00000901198.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 170,
"aa_ref": "A",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1868,
"cdna_start": 391,
"cds_end": null,
"cds_length": 513,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000942306.1",
"gene_hgnc_id": 26007,
"gene_symbol": "KRBOX4",
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612365.1",
"strand": true,
"transcript": "ENST00000942306.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 166,
"aa_ref": "A",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2319,
"cdna_start": 346,
"cds_end": null,
"cds_length": 501,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_017776.3",
"gene_hgnc_id": 26007,
"gene_symbol": "KRABD4",
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060246.2",
"strand": true,
"transcript": "NM_017776.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 166,
"aa_ref": "A",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1354,
"cdna_start": 351,
"cds_end": null,
"cds_length": 501,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000298190.10",
"gene_hgnc_id": 26007,
"gene_symbol": "KRBOX4",
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000298190.6",
"strand": true,
"transcript": "ENST00000298190.10",
"transcript_support_level": 2
},
{
"aa_alt": "G",
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"aa_length": 166,
"aa_ref": "A",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3385,
"cdna_start": 360,
"cds_end": null,
"cds_length": 501,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000901194.1",
"gene_hgnc_id": 26007,
"gene_symbol": "KRBOX4",
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571253.1",
"strand": true,
"transcript": "ENST00000901194.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 166,
"aa_ref": "A",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2305,
"cdna_start": 338,
"cds_end": null,
"cds_length": 501,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000901196.1",
"gene_hgnc_id": 26007,
"gene_symbol": "KRBOX4",
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571255.1",
"strand": true,
"transcript": "ENST00000901196.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 166,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1918,
"cdna_start": 398,
"cds_end": null,
"cds_length": 501,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000901200.1",
"gene_hgnc_id": 26007,
"gene_symbol": "KRBOX4",
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571259.1",
"strand": true,
"transcript": "ENST00000901200.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2234,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 501,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901201.1",
"gene_hgnc_id": 26007,
"gene_symbol": "KRBOX4",
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571260.1",
"strand": true,
"transcript": "ENST00000901201.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 166,
"aa_ref": "A",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1312,
"cdna_start": 443,
"cds_end": null,
"cds_length": 501,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000901204.1",
"gene_hgnc_id": 26007,
"gene_symbol": "KRBOX4",
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571263.1",
"strand": true,
"transcript": "ENST00000901204.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 166,
"aa_ref": "A",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2621,
"cdna_start": 648,
"cds_end": null,
"cds_length": 501,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000932355.1",
"gene_hgnc_id": 26007,
"gene_symbol": "KRBOX4",
"hgvs_c": "c.155C>G",
"hgvs_p": "p.Ala52Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602414.1",
"strand": true,
"transcript": "ENST00000932355.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 166,
"aa_ref": "A",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2336,
"cdna_start": 366,
"cds_end": null,
"cds_length": 501,
"cds_start": 155,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000942304.1",
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