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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: 14-104770411-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=104770411&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AKT1",
"hgnc_id": 391,
"hgvs_c": "c.1373T>A",
"hgvs_p": "p.Met458Lys",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_005163.2",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "ENSG00000258430",
"hgnc_id": null,
"hgvs_c": "n.*140A>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000557223.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": 0.1074,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Cowden syndrome 6,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3308909833431244,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 480,
"aa_ref": "M",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2957,
"cdna_start": 1895,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001382430.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1373T>A",
"hgvs_p": "p.Met458Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000649815.2",
"protein_coding": true,
"protein_id": "NP_001369359.1",
"strand": false,
"transcript": "NM_001382430.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 480,
"aa_ref": "M",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2957,
"cdna_start": 1895,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000649815.2",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1373T>A",
"hgvs_p": "p.Met458Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001382430.1",
"protein_coding": true,
"protein_id": "ENSP00000497822.1",
"strand": false,
"transcript": "ENST00000649815.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 480,
"aa_ref": "M",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2866,
"cdna_start": 1804,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000349310.7",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1373T>A",
"hgvs_p": "p.Met458Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000270202.4",
"strand": false,
"transcript": "ENST00000349310.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 480,
"aa_ref": "M",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3913,
"cdna_start": 2854,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000402615.6",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1373T>A",
"hgvs_p": "p.Met458Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385326.2",
"strand": false,
"transcript": "ENST00000402615.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 480,
"aa_ref": "M",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 1717,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000407796.7",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1373T>A",
"hgvs_p": "p.Met458Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384293.2",
"strand": false,
"transcript": "ENST00000407796.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 480,
"aa_ref": "M",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3916,
"cdna_start": 2854,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000554581.5",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1373T>A",
"hgvs_p": "p.Met458Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451828.1",
"strand": false,
"transcript": "ENST00000554581.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 480,
"aa_ref": "M",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1595,
"cdna_start": 1525,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000554848.5",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1373T>A",
"hgvs_p": "p.Met458Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451166.1",
"strand": false,
"transcript": "ENST00000554848.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 480,
"aa_ref": "M",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3066,
"cdna_start": 2026,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000555528.5",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1373T>A",
"hgvs_p": "p.Met458Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450688.1",
"strand": false,
"transcript": "ENST00000555528.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 529,
"aa_ref": "M",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 2098,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000714130.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1520T>A",
"hgvs_p": "p.Met507Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519419.1",
"strand": false,
"transcript": "ENST00000714130.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 529,
"aa_ref": "M",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2921,
"cdna_start": 1859,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000939382.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1520T>A",
"hgvs_p": "p.Met507Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609441.1",
"strand": false,
"transcript": "ENST00000939382.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 529,
"aa_ref": "M",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3130,
"cdna_start": 2071,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000959650.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1520T>A",
"hgvs_p": "p.Met507Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629709.1",
"strand": false,
"transcript": "ENST00000959650.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 529,
"aa_ref": "M",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3233,
"cdna_start": 2174,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000959670.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1520T>A",
"hgvs_p": "p.Met507Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629729.1",
"strand": false,
"transcript": "ENST00000959670.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 505,
"aa_ref": "M",
"aa_start": 483,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3711,
"cdna_start": 2696,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1448,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000553797.2",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1448T>A",
"hgvs_p": "p.Met483Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507566.1",
"strand": false,
"transcript": "ENST00000553797.2",
"transcript_support_level": 3
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 500,
"aa_ref": "M",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2839,
"cdna_start": 1779,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000959659.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1433T>A",
"hgvs_p": "p.Met478Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629718.1",
"strand": false,
"transcript": "ENST00000959659.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 480,
"aa_ref": "M",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 1717,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001014431.2",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1373T>A",
"hgvs_p": "p.Met458Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001014431.1",
"strand": false,
"transcript": "NM_001014431.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 480,
"aa_ref": "M",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2863,
"cdna_start": 1801,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001014432.2",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1373T>A",
"hgvs_p": "p.Met458Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001014432.1",
"strand": false,
"transcript": "NM_001014432.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 480,
"aa_ref": "M",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2922,
"cdna_start": 1860,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001382431.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1373T>A",
"hgvs_p": "p.Met458Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369360.1",
"strand": false,
"transcript": "NM_001382431.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 480,
"aa_ref": "M",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3006,
"cdna_start": 1944,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001382432.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1373T>A",
"hgvs_p": "p.Met458Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369361.1",
"strand": false,
"transcript": "NM_001382432.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 480,
"aa_ref": "M",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3075,
"cdna_start": 2013,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001382433.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1373T>A",
"hgvs_p": "p.Met458Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369362.1",
"strand": false,
"transcript": "NM_001382433.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 480,
"aa_ref": "M",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2989,
"cdna_start": 1927,
"cds_end": null,
"cds_length": 1443,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_005163.2",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1373T>A",
"hgvs_p": "p.Met458Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005154.2",
"strand": false,
"transcript": "NM_005163.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 480,
"aa_ref": "M",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2609,
"cdna_start": 1569,
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