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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: 14-104773257-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=104773257&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "AKT1",
"hgnc_id": 391,
"hgvs_c": "c.951C>A",
"hgvs_p": "p.Ala317Ala",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_005163.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_score": -21,
"allele_count_reference_population": 34,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.65,
"chr": "14",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Cowden syndrome 6,Inborn genetic diseases",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6499999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "A",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2957,
"cdna_start": 1473,
"cds_end": null,
"cds_length": 1443,
"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001382430.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.951C>A",
"hgvs_p": "p.Ala317Ala",
"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": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "A",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2957,
"cdna_start": 1473,
"cds_end": null,
"cds_length": 1443,
"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000649815.2",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.951C>A",
"hgvs_p": "p.Ala317Ala",
"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": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "A",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2866,
"cdna_start": 1382,
"cds_end": null,
"cds_length": 1443,
"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000349310.7",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.951C>A",
"hgvs_p": "p.Ala317Ala",
"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": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "A",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3913,
"cdna_start": 2432,
"cds_end": null,
"cds_length": 1443,
"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000402615.6",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.951C>A",
"hgvs_p": "p.Ala317Ala",
"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": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "A",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 1443,
"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000407796.7",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.951C>A",
"hgvs_p": "p.Ala317Ala",
"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": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "A",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3916,
"cdna_start": 2432,
"cds_end": null,
"cds_length": 1443,
"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000554581.5",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.951C>A",
"hgvs_p": "p.Ala317Ala",
"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": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "A",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1595,
"cdna_start": 1103,
"cds_end": null,
"cds_length": 1443,
"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000554848.5",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.951C>A",
"hgvs_p": "p.Ala317Ala",
"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": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "A",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3066,
"cdna_start": 1604,
"cds_end": null,
"cds_length": 1443,
"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000555528.5",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.951C>A",
"hgvs_p": "p.Ala317Ala",
"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": "A",
"aa_end": null,
"aa_length": 529,
"aa_ref": "A",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 1529,
"cds_end": null,
"cds_length": 1590,
"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000714130.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.951C>A",
"hgvs_p": "p.Ala317Ala",
"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": "A",
"aa_end": null,
"aa_length": 529,
"aa_ref": "A",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2921,
"cdna_start": 1290,
"cds_end": null,
"cds_length": 1590,
"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000939382.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.951C>A",
"hgvs_p": "p.Ala317Ala",
"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": "A",
"aa_end": null,
"aa_length": 529,
"aa_ref": "A",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3130,
"cdna_start": 1502,
"cds_end": null,
"cds_length": 1590,
"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000959650.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.951C>A",
"hgvs_p": "p.Ala317Ala",
"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": "A",
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"aa_length": 529,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3233,
"cdna_start": 1605,
"cds_end": null,
"cds_length": 1590,
"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000959670.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.951C>A",
"hgvs_p": "p.Ala317Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629729.1",
"strand": false,
"transcript": "ENST00000959670.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 505,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3711,
"cdna_start": 2274,
"cds_end": null,
"cds_length": 1518,
"cds_start": 1026,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000553797.2",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1026C>A",
"hgvs_p": "p.Ala342Ala",
"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": "A",
"aa_end": null,
"aa_length": 500,
"aa_ref": "A",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2839,
"cdna_start": 1357,
"cds_end": null,
"cds_length": 1503,
"cds_start": 1011,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000959659.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.1011C>A",
"hgvs_p": "p.Ala337Ala",
"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": "A",
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 1295,
"cds_end": null,
"cds_length": 1443,
"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001014431.2",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.951C>A",
"hgvs_p": "p.Ala317Ala",
"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": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "A",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2863,
"cdna_start": 1379,
"cds_end": null,
"cds_length": 1443,
"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001014432.2",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.951C>A",
"hgvs_p": "p.Ala317Ala",
"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": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "A",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2922,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 1443,
"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001382431.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.951C>A",
"hgvs_p": "p.Ala317Ala",
"intron_rank": null,
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"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": "A",
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3006,
"cdna_start": 1522,
"cds_end": null,
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"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001382432.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.951C>A",
"hgvs_p": "p.Ala317Ala",
"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": "A",
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"aa_length": 480,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3075,
"cdna_start": 1591,
"cds_end": null,
"cds_length": 1443,
"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001382433.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.951C>A",
"hgvs_p": "p.Ala317Ala",
"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": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "A",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2989,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 1443,
"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_005163.2",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.951C>A",
"hgvs_p": "p.Ala317Ala",
"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": "A",
"aa_end": null,
"aa_length": 480,
"aa_ref": "A",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2609,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 1443,
"cds_start": 951,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000683722.1",
"gene_hgnc_id": 391,
"gene_symbol": "AKT1",
"hgvs_c": "c.951C>A",
"hgvs_p": "p.Ala317Ala",
"intron_rank": null,
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