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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: 4-54736552-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=54736552&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 54736552,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001385284.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2539A>G",
"hgvs_p": "p.Thr847Ala",
"transcript": "NM_000222.3",
"protein_id": "NP_000213.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 976,
"cds_start": 2539,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 2597,
"cdna_end": null,
"cdna_length": 5147,
"mane_select": "ENST00000288135.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000222.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2539A>G",
"hgvs_p": "p.Thr847Ala",
"transcript": "ENST00000288135.6",
"protein_id": "ENSP00000288135.6",
"transcript_support_level": 1,
"aa_start": 847,
"aa_end": null,
"aa_length": 976,
"cds_start": 2539,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 2597,
"cdna_end": null,
"cdna_length": 5147,
"mane_select": "NM_000222.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000288135.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2527A>G",
"hgvs_p": "p.Thr843Ala",
"transcript": "ENST00000412167.7",
"protein_id": "ENSP00000390987.3",
"transcript_support_level": 1,
"aa_start": 843,
"aa_end": null,
"aa_length": 972,
"cds_start": 2527,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2619,
"cdna_end": null,
"cdna_length": 5126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412167.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2542A>G",
"hgvs_p": "p.Thr848Ala",
"transcript": "NM_001385284.1",
"protein_id": "NP_001372213.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 977,
"cds_start": 2542,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 2600,
"cdna_end": null,
"cdna_length": 5150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385284.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2542A>G",
"hgvs_p": "p.Thr848Ala",
"transcript": "ENST00000687109.1",
"protein_id": "ENSP00000509371.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 977,
"cds_start": 2542,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 2644,
"cdna_end": null,
"cdna_length": 5249,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687109.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2539A>G",
"hgvs_p": "p.Thr847Ala",
"transcript": "NM_001385290.1",
"protein_id": "NP_001372219.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 976,
"cds_start": 2539,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 2597,
"cdna_end": null,
"cdna_length": 5147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385290.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2539A>G",
"hgvs_p": "p.Thr847Ala",
"transcript": "ENST00000689832.1",
"protein_id": "ENSP00000509084.1",
"transcript_support_level": null,
"aa_start": 847,
"aa_end": null,
"aa_length": 976,
"cds_start": 2539,
"cds_end": null,
"cds_length": 2931,
"cdna_start": 2587,
"cdna_end": null,
"cdna_length": 5098,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689832.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2536A>G",
"hgvs_p": "p.Thr846Ala",
"transcript": "NM_001385285.1",
"protein_id": "NP_001372214.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 975,
"cds_start": 2536,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2594,
"cdna_end": null,
"cdna_length": 5144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385285.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2536A>G",
"hgvs_p": "p.Thr846Ala",
"transcript": "ENST00000692783.1",
"protein_id": "ENSP00000508733.1",
"transcript_support_level": null,
"aa_start": 846,
"aa_end": null,
"aa_length": 975,
"cds_start": 2536,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 2628,
"cdna_end": null,
"cdna_length": 5230,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692783.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2530A>G",
"hgvs_p": "p.Thr844Ala",
"transcript": "NM_001385288.1",
"protein_id": "NP_001372217.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 973,
"cds_start": 2530,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2588,
"cdna_end": null,
"cdna_length": 5138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385288.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2530A>G",
"hgvs_p": "p.Thr844Ala",
"transcript": "ENST00000690543.1",
"protein_id": "ENSP00000508831.1",
"transcript_support_level": null,
"aa_start": 844,
"aa_end": null,
"aa_length": 973,
"cds_start": 2530,
"cds_end": null,
"cds_length": 2922,
"cdna_start": 2588,
"cdna_end": null,
"cdna_length": 5121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690543.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2527A>G",
"hgvs_p": "p.Thr843Ala",
"transcript": "NM_001093772.2",
"protein_id": "NP_001087241.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 972,
"cds_start": 2527,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2585,
"cdna_end": null,
"cdna_length": 5135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001093772.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2527A>G",
"hgvs_p": "p.Thr843Ala",
"transcript": "NM_001385292.1",
"protein_id": "NP_001372221.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 972,
"cds_start": 2527,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2585,
"cdna_end": null,
"cdna_length": 5135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385292.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2527A>G",
"hgvs_p": "p.Thr843Ala",
"transcript": "ENST00000687295.1",
"protein_id": "ENSP00000509450.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 972,
"cds_start": 2527,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 2653,
"cdna_end": null,
"cdna_length": 5271,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687295.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2524A>G",
"hgvs_p": "p.Thr842Ala",
"transcript": "NM_001385286.1",
"protein_id": "NP_001372215.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 971,
"cds_start": 2524,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2582,
"cdna_end": null,
"cdna_length": 5132,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385286.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2524A>G",
"hgvs_p": "p.Thr842Ala",
"transcript": "ENST00000686011.1",
"protein_id": "ENSP00000509704.1",
"transcript_support_level": null,
"aa_start": 842,
"aa_end": null,
"aa_length": 971,
"cds_start": 2524,
"cds_end": null,
"cds_length": 2916,
"cdna_start": 2597,
"cdna_end": null,
"cdna_length": 5135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000686011.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2422A>G",
"hgvs_p": "p.Thr808Ala",
"transcript": "ENST00000895987.1",
"protein_id": "ENSP00000566046.1",
"transcript_support_level": null,
"aa_start": 808,
"aa_end": null,
"aa_length": 937,
"cds_start": 2422,
"cds_end": null,
"cds_length": 2814,
"cdna_start": 2480,
"cdna_end": null,
"cdna_length": 5024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895987.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2404A>G",
"hgvs_p": "p.Thr802Ala",
"transcript": "ENST00000687246.1",
"protein_id": "ENSP00000509114.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 931,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2796,
"cdna_start": 2472,
"cdna_end": null,
"cdna_length": 5022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687246.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2320A>G",
"hgvs_p": "p.Thr774Ala",
"transcript": "ENST00000931720.1",
"protein_id": "ENSP00000601779.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 903,
"cds_start": 2320,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 2372,
"cdna_end": null,
"cdna_length": 4918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931720.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2314A>G",
"hgvs_p": "p.Thr772Ala",
"transcript": "ENST00000931721.1",
"protein_id": "ENSP00000601780.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 901,
"cds_start": 2314,
"cds_end": null,
"cds_length": 2706,
"cdna_start": 2365,
"cdna_end": null,
"cdna_length": 4911,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931721.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2311A>G",
"hgvs_p": "p.Thr771Ala",
"transcript": "ENST00000931719.1",
"protein_id": "ENSP00000601778.1",
"transcript_support_level": null,
"aa_start": 771,
"aa_end": null,
"aa_length": 900,
"cds_start": 2311,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2380,
"cdna_end": null,
"cdna_length": 4930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931719.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIT",
"gene_hgnc_id": 6342,
"hgvs_c": "c.2029A>G",
"hgvs_p": "p.Thr677Ala",
"transcript": "ENST00000689994.1",
"protein_id": "ENSP00000509156.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 806,
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{
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"PM5",
"PP2",
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Gastrointestinal stromal tumor|Hereditary cancer-predisposing syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}