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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: 4-54736794-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=54736794&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "KIT",
"hgnc_id": 6342,
"hgvs_c": "c.2673C>G",
"hgvs_p": "p.Leu891Leu",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -5,
"transcript": "NM_001385284.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "4",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Hereditary cancer-predisposing syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 976,
"aa_ref": "L",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5147,
"cdna_start": 2728,
"cds_end": null,
"cds_length": 2931,
"cds_start": 2670,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_000222.3",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2670C>G",
"hgvs_p": "p.Leu890Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000288135.6",
"protein_coding": true,
"protein_id": "NP_000213.1",
"strand": true,
"transcript": "NM_000222.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 976,
"aa_ref": "L",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5147,
"cdna_start": 2728,
"cds_end": null,
"cds_length": 2931,
"cds_start": 2670,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000288135.6",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2670C>G",
"hgvs_p": "p.Leu890Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000222.3",
"protein_coding": true,
"protein_id": "ENSP00000288135.6",
"strand": true,
"transcript": "ENST00000288135.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 972,
"aa_ref": "L",
"aa_start": 886,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5126,
"cdna_start": 2750,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2658,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000412167.7",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2658C>G",
"hgvs_p": "p.Leu886Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390987.3",
"strand": true,
"transcript": "ENST00000412167.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 977,
"aa_ref": "L",
"aa_start": 891,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5150,
"cdna_start": 2731,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2673,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001385284.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2673C>G",
"hgvs_p": "p.Leu891Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372213.1",
"strand": true,
"transcript": "NM_001385284.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 977,
"aa_ref": "L",
"aa_start": 891,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5249,
"cdna_start": 2775,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2673,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000687109.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2673C>G",
"hgvs_p": "p.Leu891Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509371.1",
"strand": true,
"transcript": "ENST00000687109.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 976,
"aa_ref": "L",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5147,
"cdna_start": 2728,
"cds_end": null,
"cds_length": 2931,
"cds_start": 2670,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001385290.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2670C>G",
"hgvs_p": "p.Leu890Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372219.1",
"strand": true,
"transcript": "NM_001385290.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 976,
"aa_ref": "L",
"aa_start": 890,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5098,
"cdna_start": 2718,
"cds_end": null,
"cds_length": 2931,
"cds_start": 2670,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000689832.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2670C>G",
"hgvs_p": "p.Leu890Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509084.1",
"strand": true,
"transcript": "ENST00000689832.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 975,
"aa_ref": "L",
"aa_start": 889,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5144,
"cdna_start": 2725,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2667,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001385285.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2667C>G",
"hgvs_p": "p.Leu889Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372214.1",
"strand": true,
"transcript": "NM_001385285.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 975,
"aa_ref": "L",
"aa_start": 889,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5230,
"cdna_start": 2759,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2667,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000692783.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2667C>G",
"hgvs_p": "p.Leu889Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508733.1",
"strand": true,
"transcript": "ENST00000692783.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 973,
"aa_ref": "L",
"aa_start": 887,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5138,
"cdna_start": 2719,
"cds_end": null,
"cds_length": 2922,
"cds_start": 2661,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001385288.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2661C>G",
"hgvs_p": "p.Leu887Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372217.1",
"strand": true,
"transcript": "NM_001385288.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 973,
"aa_ref": "L",
"aa_start": 887,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5121,
"cdna_start": 2719,
"cds_end": null,
"cds_length": 2922,
"cds_start": 2661,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000690543.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2661C>G",
"hgvs_p": "p.Leu887Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508831.1",
"strand": true,
"transcript": "ENST00000690543.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 972,
"aa_ref": "L",
"aa_start": 886,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5135,
"cdna_start": 2716,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2658,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001093772.2",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2658C>G",
"hgvs_p": "p.Leu886Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001087241.1",
"strand": true,
"transcript": "NM_001093772.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 972,
"aa_ref": "L",
"aa_start": 886,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5135,
"cdna_start": 2716,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2658,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001385292.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2658C>G",
"hgvs_p": "p.Leu886Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372221.1",
"strand": true,
"transcript": "NM_001385292.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 972,
"aa_ref": "L",
"aa_start": 886,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5271,
"cdna_start": 2784,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2658,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000687295.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2658C>G",
"hgvs_p": "p.Leu886Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509450.1",
"strand": true,
"transcript": "ENST00000687295.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 971,
"aa_ref": "L",
"aa_start": 885,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5132,
"cdna_start": 2713,
"cds_end": null,
"cds_length": 2916,
"cds_start": 2655,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001385286.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2655C>G",
"hgvs_p": "p.Leu885Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372215.1",
"strand": true,
"transcript": "NM_001385286.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 971,
"aa_ref": "L",
"aa_start": 885,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5135,
"cdna_start": 2728,
"cds_end": null,
"cds_length": 2916,
"cds_start": 2655,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000686011.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2655C>G",
"hgvs_p": "p.Leu885Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509704.1",
"strand": true,
"transcript": "ENST00000686011.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 937,
"aa_ref": "L",
"aa_start": 851,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5024,
"cdna_start": 2611,
"cds_end": null,
"cds_length": 2814,
"cds_start": 2553,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000895987.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2553C>G",
"hgvs_p": "p.Leu851Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566046.1",
"strand": true,
"transcript": "ENST00000895987.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 931,
"aa_ref": "L",
"aa_start": 845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5022,
"cdna_start": 2603,
"cds_end": null,
"cds_length": 2796,
"cds_start": 2535,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000687246.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2535C>G",
"hgvs_p": "p.Leu845Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509114.1",
"strand": true,
"transcript": "ENST00000687246.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 903,
"aa_ref": "L",
"aa_start": 817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4918,
"cdna_start": 2503,
"cds_end": null,
"cds_length": 2712,
"cds_start": 2451,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000931720.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2451C>G",
"hgvs_p": "p.Leu817Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601779.1",
"strand": true,
"transcript": "ENST00000931720.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 901,
"aa_ref": "L",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4911,
"cdna_start": 2496,
"cds_end": null,
"cds_length": 2706,
"cds_start": 2445,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000931721.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2445C>G",
"hgvs_p": "p.Leu815Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601780.1",
"strand": true,
"transcript": "ENST00000931721.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 900,
"aa_ref": "L",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4930,
"cdna_start": 2511,
"cds_end": null,
"cds_length": 2703,
"cds_start": 2442,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
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