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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: 14-104780190-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=104780190&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 104780190,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_005163.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.73C>A",
"hgvs_p": "p.Arg25Ser",
"transcript": "NM_001382430.1",
"protein_id": "NP_001369359.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 480,
"cds_start": 73,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000649815.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382430.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.73C>A",
"hgvs_p": "p.Arg25Ser",
"transcript": "ENST00000649815.2",
"protein_id": "ENSP00000497822.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 480,
"cds_start": 73,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001382430.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649815.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.73C>A",
"hgvs_p": "p.Arg25Ser",
"transcript": "ENST00000349310.7",
"protein_id": "ENSP00000270202.4",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 480,
"cds_start": 73,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349310.7"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.73C>A",
"hgvs_p": "p.Arg25Ser",
"transcript": "ENST00000402615.6",
"protein_id": "ENSP00000385326.2",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 480,
"cds_start": 73,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402615.6"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.73C>A",
"hgvs_p": "p.Arg25Ser",
"transcript": "ENST00000407796.7",
"protein_id": "ENSP00000384293.2",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 480,
"cds_start": 73,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407796.7"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.73C>A",
"hgvs_p": "p.Arg25Ser",
"transcript": "ENST00000554581.5",
"protein_id": "ENSP00000451828.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 480,
"cds_start": 73,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554581.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.73C>A",
"hgvs_p": "p.Arg25Ser",
"transcript": "ENST00000554848.5",
"protein_id": "ENSP00000451166.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 480,
"cds_start": 73,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554848.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.73C>A",
"hgvs_p": "p.Arg25Ser",
"transcript": "ENST00000555528.5",
"protein_id": "ENSP00000450688.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 480,
"cds_start": 73,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555528.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.73C>A",
"hgvs_p": "p.Arg25Ser",
"transcript": "ENST00000714130.1",
"protein_id": "ENSP00000519419.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 529,
"cds_start": 73,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714130.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.73C>A",
"hgvs_p": "p.Arg25Ser",
"transcript": "ENST00000939382.1",
"protein_id": "ENSP00000609441.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 529,
"cds_start": 73,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939382.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.73C>A",
"hgvs_p": "p.Arg25Ser",
"transcript": "ENST00000959650.1",
"protein_id": "ENSP00000629709.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 529,
"cds_start": 73,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959650.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.73C>A",
"hgvs_p": "p.Arg25Ser",
"transcript": "ENST00000959670.1",
"protein_id": "ENSP00000629729.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 529,
"cds_start": 73,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959670.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.73C>A",
"hgvs_p": "p.Arg25Ser",
"transcript": "ENST00000553797.2",
"protein_id": "ENSP00000507566.1",
"transcript_support_level": 3,
"aa_start": 25,
"aa_end": null,
"aa_length": 505,
"cds_start": 73,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000553797.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.73C>A",
"hgvs_p": "p.Arg25Ser",
"transcript": "ENST00000959659.1",
"protein_id": "ENSP00000629718.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 500,
"cds_start": 73,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959659.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.73C>A",
"hgvs_p": "p.Arg25Ser",
"transcript": "NM_001014431.2",
"protein_id": "NP_001014431.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 480,
"cds_start": 73,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001014431.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.73C>A",
"hgvs_p": "p.Arg25Ser",
"transcript": "NM_001014432.2",
"protein_id": "NP_001014432.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 480,
"cds_start": 73,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001014432.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.73C>A",
"hgvs_p": "p.Arg25Ser",
"transcript": "NM_001382431.1",
"protein_id": "NP_001369360.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 480,
"cds_start": 73,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382431.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.73C>A",
"hgvs_p": "p.Arg25Ser",
"transcript": "NM_001382432.1",
"protein_id": "NP_001369361.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 480,
"cds_start": 73,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382432.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.73C>A",
"hgvs_p": "p.Arg25Ser",
"transcript": "NM_001382433.1",
"protein_id": "NP_001369362.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 480,
"cds_start": 73,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382433.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.73C>A",
"hgvs_p": "p.Arg25Ser",
"transcript": "NM_005163.2",
"protein_id": "NP_005154.2",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 480,
"cds_start": 73,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005163.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.73C>A",
"hgvs_p": "p.Arg25Ser",
"transcript": "ENST00000683722.1",
"protein_id": "ENSP00000507879.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 480,
"cds_start": 73,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683722.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKT1",
"gene_hgnc_id": 391,
"hgvs_c": "c.73C>A",
"hgvs_p": "p.Arg25Ser",
"transcript": "ENST00000855590.1",
"protein_id": "ENSP00000525649.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 480,
"cds_start": 73,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855590.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Uncertain_significance",
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{
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"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_005163.2",
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"effects": [
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"inheritance_mode": "AD,Unknown",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}