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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: 4-54731900-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=54731900&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"PP2",
"BP4_Moderate",
"BP6",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KIT",
"hgnc_id": 6342,
"hgvs_c": "c.2266G>A",
"hgvs_p": "p.Ala756Thr",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": -10,
"transcript": "NM_001385284.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PP2,BP4_Moderate,BP6,BS1,BS2",
"acmg_score": -10,
"allele_count_reference_population": 103,
"alphamissense_prediction": null,
"alphamissense_score": 0.0872,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"chr": "4",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Gastrointestinal stromal tumor,Hereditary cancer-predisposing syndrome,Mastocytosis,Piebaldism,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:4 LB:2 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.16478881239891052,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 976,
"aa_ref": "A",
"aa_start": 755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5147,
"cdna_start": 2321,
"cds_end": null,
"cds_length": 2931,
"cds_start": 2263,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_000222.3",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2263G>A",
"hgvs_p": "p.Ala755Thr",
"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": "T",
"aa_end": null,
"aa_length": 976,
"aa_ref": "A",
"aa_start": 755,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5147,
"cdna_start": 2321,
"cds_end": null,
"cds_length": 2931,
"cds_start": 2263,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000288135.6",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2263G>A",
"hgvs_p": "p.Ala755Thr",
"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": "T",
"aa_end": null,
"aa_length": 972,
"aa_ref": "A",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5126,
"cdna_start": 2343,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2251,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000412167.7",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2251G>A",
"hgvs_p": "p.Ala751Thr",
"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": "T",
"aa_end": null,
"aa_length": 977,
"aa_ref": "A",
"aa_start": 756,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5150,
"cdna_start": 2324,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2266,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001385284.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2266G>A",
"hgvs_p": "p.Ala756Thr",
"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": "T",
"aa_end": null,
"aa_length": 977,
"aa_ref": "A",
"aa_start": 756,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5249,
"cdna_start": 2368,
"cds_end": null,
"cds_length": 2934,
"cds_start": 2266,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000687109.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2266G>A",
"hgvs_p": "p.Ala756Thr",
"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": "T",
"aa_end": null,
"aa_length": 976,
"aa_ref": "A",
"aa_start": 755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5147,
"cdna_start": 2321,
"cds_end": null,
"cds_length": 2931,
"cds_start": 2263,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001385290.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2263G>A",
"hgvs_p": "p.Ala755Thr",
"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": "T",
"aa_end": null,
"aa_length": 976,
"aa_ref": "A",
"aa_start": 755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5098,
"cdna_start": 2311,
"cds_end": null,
"cds_length": 2931,
"cds_start": 2263,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000689832.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2263G>A",
"hgvs_p": "p.Ala755Thr",
"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": "T",
"aa_end": null,
"aa_length": 975,
"aa_ref": "A",
"aa_start": 754,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5144,
"cdna_start": 2318,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2260,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001385285.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2260G>A",
"hgvs_p": "p.Ala754Thr",
"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": "T",
"aa_end": null,
"aa_length": 975,
"aa_ref": "A",
"aa_start": 754,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5230,
"cdna_start": 2352,
"cds_end": null,
"cds_length": 2928,
"cds_start": 2260,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000692783.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2260G>A",
"hgvs_p": "p.Ala754Thr",
"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": "T",
"aa_end": null,
"aa_length": 973,
"aa_ref": "A",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5138,
"cdna_start": 2312,
"cds_end": null,
"cds_length": 2922,
"cds_start": 2254,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001385288.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Ala752Thr",
"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": "T",
"aa_end": null,
"aa_length": 973,
"aa_ref": "A",
"aa_start": 752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5121,
"cdna_start": 2312,
"cds_end": null,
"cds_length": 2922,
"cds_start": 2254,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000690543.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2254G>A",
"hgvs_p": "p.Ala752Thr",
"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": "T",
"aa_end": null,
"aa_length": 972,
"aa_ref": "A",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5135,
"cdna_start": 2309,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2251,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001093772.2",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2251G>A",
"hgvs_p": "p.Ala751Thr",
"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": "T",
"aa_end": null,
"aa_length": 972,
"aa_ref": "A",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5135,
"cdna_start": 2309,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2251,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001385292.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2251G>A",
"hgvs_p": "p.Ala751Thr",
"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": "T",
"aa_end": null,
"aa_length": 972,
"aa_ref": "A",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5271,
"cdna_start": 2377,
"cds_end": null,
"cds_length": 2919,
"cds_start": 2251,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000687295.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2251G>A",
"hgvs_p": "p.Ala751Thr",
"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": "T",
"aa_end": null,
"aa_length": 971,
"aa_ref": "A",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5132,
"cdna_start": 2306,
"cds_end": null,
"cds_length": 2916,
"cds_start": 2248,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001385286.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Ala750Thr",
"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": "T",
"aa_end": null,
"aa_length": 971,
"aa_ref": "A",
"aa_start": 750,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5135,
"cdna_start": 2321,
"cds_end": null,
"cds_length": 2916,
"cds_start": 2248,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000686011.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2248G>A",
"hgvs_p": "p.Ala750Thr",
"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": "T",
"aa_end": null,
"aa_length": 937,
"aa_ref": "A",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5024,
"cdna_start": 2204,
"cds_end": null,
"cds_length": 2814,
"cds_start": 2146,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000895987.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2146G>A",
"hgvs_p": "p.Ala716Thr",
"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": "T",
"aa_end": null,
"aa_length": 931,
"aa_ref": "A",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5022,
"cdna_start": 2319,
"cds_end": null,
"cds_length": 2796,
"cds_start": 2251,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000687246.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2251G>A",
"hgvs_p": "p.Ala751Thr",
"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": "T",
"aa_end": null,
"aa_length": 903,
"aa_ref": "A",
"aa_start": 682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4918,
"cdna_start": 2096,
"cds_end": null,
"cds_length": 2712,
"cds_start": 2044,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000931720.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2044G>A",
"hgvs_p": "p.Ala682Thr",
"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": "T",
"aa_end": null,
"aa_length": 901,
"aa_ref": "A",
"aa_start": 680,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4911,
"cdna_start": 2089,
"cds_end": null,
"cds_length": 2706,
"cds_start": 2038,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000931721.1",
"gene_hgnc_id": 6342,
"gene_symbol": "KIT",
"hgvs_c": "c.2038G>A",
"hgvs_p": "p.Ala680Thr",
"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": "T",
"aa_end": null,
"aa_length": 900,
"aa_ref": "A",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4930,
"cdna_start": 2104,
"cds_end": null,
"cds_length": 2703,
"cds_start": 2035,
"consequences": [
"missense_variant"
],
"exon_count": 19,
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