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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: 17-40023239-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=40023239&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 40023239,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001330211.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2142T>G",
"hgvs_p": "p.Ile714Met",
"transcript": "NM_014815.4",
"protein_id": "NP_055630.2",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 989,
"cds_start": 2142,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 2227,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": "ENST00000394128.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014815.4"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2142T>G",
"hgvs_p": "p.Ile714Met",
"transcript": "ENST00000394128.7",
"protein_id": "ENSP00000377686.2",
"transcript_support_level": 1,
"aa_start": 714,
"aa_end": null,
"aa_length": 989,
"cds_start": 2142,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 2227,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": "NM_014815.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394128.7"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2217T>G",
"hgvs_p": "p.Ile739Met",
"transcript": "ENST00000394126.5",
"protein_id": "ENSP00000377684.1",
"transcript_support_level": 1,
"aa_start": 739,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2217,
"cds_end": null,
"cds_length": 3045,
"cdna_start": 2636,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394126.5"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2235T>G",
"hgvs_p": "p.Ile745Met",
"transcript": "ENST00000887917.1",
"protein_id": "ENSP00000557976.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2235,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 2329,
"cdna_end": null,
"cdna_length": 3586,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887917.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2235T>G",
"hgvs_p": "p.Ile745Met",
"transcript": "ENST00000972430.1",
"protein_id": "ENSP00000642489.1",
"transcript_support_level": null,
"aa_start": 745,
"aa_end": null,
"aa_length": 1019,
"cds_start": 2235,
"cds_end": null,
"cds_length": 3060,
"cdna_start": 2319,
"cdna_end": null,
"cdna_length": 3569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972430.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2223T>G",
"hgvs_p": "p.Ile741Met",
"transcript": "ENST00000887919.1",
"protein_id": "ENSP00000557978.1",
"transcript_support_level": null,
"aa_start": 741,
"aa_end": null,
"aa_length": 1016,
"cds_start": 2223,
"cds_end": null,
"cds_length": 3051,
"cdna_start": 2308,
"cdna_end": null,
"cdna_length": 3563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887919.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2199T>G",
"hgvs_p": "p.Ile733Met",
"transcript": "NM_001330211.2",
"protein_id": "NP_001317140.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3027,
"cdna_start": 2284,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330211.2"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2199T>G",
"hgvs_p": "p.Ile733Met",
"transcript": "ENST00000501516.7",
"protein_id": "ENSP00000440100.2",
"transcript_support_level": 5,
"aa_start": 733,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3027,
"cdna_start": 2209,
"cdna_end": null,
"cdna_length": 3037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000501516.7"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2199T>G",
"hgvs_p": "p.Ile733Met",
"transcript": "ENST00000887920.1",
"protein_id": "ENSP00000557979.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3024,
"cdna_start": 2284,
"cdna_end": null,
"cdna_length": 3535,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887920.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2199T>G",
"hgvs_p": "p.Ile733Met",
"transcript": "ENST00000931327.1",
"protein_id": "ENSP00000601386.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3024,
"cdna_start": 2267,
"cdna_end": null,
"cdna_length": 3516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931327.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2199T>G",
"hgvs_p": "p.Ile733Met",
"transcript": "ENST00000972426.1",
"protein_id": "ENSP00000642485.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2199,
"cds_end": null,
"cds_length": 3024,
"cdna_start": 2279,
"cdna_end": null,
"cdna_length": 3528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972426.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2178T>G",
"hgvs_p": "p.Ile726Met",
"transcript": "ENST00000887916.1",
"protein_id": "ENSP00000557975.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2178,
"cds_end": null,
"cds_length": 3006,
"cdna_start": 2272,
"cdna_end": null,
"cdna_length": 3532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887916.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2178T>G",
"hgvs_p": "p.Ile726Met",
"transcript": "ENST00000931326.1",
"protein_id": "ENSP00000601385.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2178,
"cds_end": null,
"cds_length": 3006,
"cdna_start": 2950,
"cdna_end": null,
"cdna_length": 4205,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931326.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2178T>G",
"hgvs_p": "p.Ile726Met",
"transcript": "ENST00000931328.1",
"protein_id": "ENSP00000601387.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2178,
"cds_end": null,
"cds_length": 3006,
"cdna_start": 2241,
"cdna_end": null,
"cdna_length": 3494,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931328.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2142T>G",
"hgvs_p": "p.Ile714Met",
"transcript": "ENST00000972427.1",
"protein_id": "ENSP00000642486.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 1001,
"cds_start": 2142,
"cds_end": null,
"cds_length": 3006,
"cdna_start": 2230,
"cdna_end": null,
"cdna_length": 3521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972427.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2178T>G",
"hgvs_p": "p.Ile726Met",
"transcript": "ENST00000887918.1",
"protein_id": "ENSP00000557977.1",
"transcript_support_level": null,
"aa_start": 726,
"aa_end": null,
"aa_length": 1000,
"cds_start": 2178,
"cds_end": null,
"cds_length": 3003,
"cdna_start": 2263,
"cdna_end": null,
"cdna_length": 3520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887918.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2163T>G",
"hgvs_p": "p.Ile721Met",
"transcript": "ENST00000972429.1",
"protein_id": "ENSP00000642488.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 996,
"cds_start": 2163,
"cds_end": null,
"cds_length": 2991,
"cdna_start": 2248,
"cdna_end": null,
"cdna_length": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972429.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2160T>G",
"hgvs_p": "p.Ile720Met",
"transcript": "ENST00000972431.1",
"protein_id": "ENSP00000642490.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 995,
"cds_start": 2160,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 2245,
"cdna_end": null,
"cdna_length": 3495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972431.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2142T>G",
"hgvs_p": "p.Ile714Met",
"transcript": "ENST00000931324.1",
"protein_id": "ENSP00000601383.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 989,
"cds_start": 2142,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 2234,
"cdna_end": null,
"cdna_length": 3491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931324.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2142T>G",
"hgvs_p": "p.Ile714Met",
"transcript": "ENST00000931329.1",
"protein_id": "ENSP00000601388.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 989,
"cds_start": 2142,
"cds_end": null,
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"cdna_start": 2766,
"cdna_end": null,
"cdna_length": 4020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931329.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2142T>G",
"hgvs_p": "p.Ile714Met",
"transcript": "ENST00000972424.1",
"protein_id": "ENSP00000642483.1",
"transcript_support_level": null,
"aa_start": 714,
"aa_end": null,
"aa_length": 989,
"cds_start": 2142,
"cds_end": null,
"cds_length": 2970,
"cdna_start": 3252,
"cdna_end": null,
"cdna_length": 4505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972424.1"
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED24",
"gene_hgnc_id": 22963,
"hgvs_c": "c.2142T>G",
"hgvs_p": "p.Ile714Met",
"transcript": "ENST00000972432.1",
"protein_id": "ENSP00000642491.1",
"transcript_support_level": null,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001330211.2",
"gene_symbol": "MED24",
"hgnc_id": 22963,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2199T>G",
"hgvs_p": "p.Ile733Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}