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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: 11-105026893-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=105026893&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 105026893,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_033292.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP1",
"gene_hgnc_id": 1499,
"hgvs_c": "c.1065A>T",
"hgvs_p": "p.Glu355Asp",
"transcript": "NM_001257118.3",
"protein_id": "NP_001244047.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 404,
"cds_start": 1065,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000533400.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257118.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP1",
"gene_hgnc_id": 1499,
"hgvs_c": "c.1065A>T",
"hgvs_p": "p.Glu355Asp",
"transcript": "ENST00000533400.6",
"protein_id": "ENSP00000433138.1",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 404,
"cds_start": 1065,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001257118.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533400.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP1",
"gene_hgnc_id": 1499,
"hgvs_c": "c.1065A>T",
"hgvs_p": "p.Glu355Asp",
"transcript": "ENST00000436863.7",
"protein_id": "ENSP00000410076.3",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 404,
"cds_start": 1065,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436863.7"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP1",
"gene_hgnc_id": 1499,
"hgvs_c": "c.786A>T",
"hgvs_p": "p.Glu262Asp",
"transcript": "ENST00000526568.5",
"protein_id": "ENSP00000434250.1",
"transcript_support_level": 1,
"aa_start": 262,
"aa_end": null,
"aa_length": 311,
"cds_start": 786,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526568.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP1",
"gene_hgnc_id": 1499,
"hgvs_c": "n.*553A>T",
"hgvs_p": null,
"transcript": "ENST00000529871.1",
"protein_id": "ENSP00000431947.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000529871.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP1",
"gene_hgnc_id": 1499,
"hgvs_c": "n.*553A>T",
"hgvs_p": null,
"transcript": "ENST00000529871.1",
"protein_id": "ENSP00000431947.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000529871.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP1",
"gene_hgnc_id": 1499,
"hgvs_c": "c.1071A>T",
"hgvs_p": "p.Glu357Asp",
"transcript": "ENST00000904259.1",
"protein_id": "ENSP00000574318.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 406,
"cds_start": 1071,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904259.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP1",
"gene_hgnc_id": 1499,
"hgvs_c": "c.1065A>T",
"hgvs_p": "p.Glu355Asp",
"transcript": "NM_033292.4",
"protein_id": "NP_150634.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 404,
"cds_start": 1065,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033292.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP1",
"gene_hgnc_id": 1499,
"hgvs_c": "c.1002A>T",
"hgvs_p": "p.Glu334Asp",
"transcript": "NM_001223.5",
"protein_id": "NP_001214.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 383,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001223.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP1",
"gene_hgnc_id": 1499,
"hgvs_c": "c.1002A>T",
"hgvs_p": "p.Glu334Asp",
"transcript": "NM_001257119.3",
"protein_id": "NP_001244048.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 383,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257119.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP1",
"gene_hgnc_id": 1499,
"hgvs_c": "c.1002A>T",
"hgvs_p": "p.Glu334Asp",
"transcript": "ENST00000525825.6",
"protein_id": "ENSP00000434779.1",
"transcript_support_level": 2,
"aa_start": 334,
"aa_end": null,
"aa_length": 383,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525825.6"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP1",
"gene_hgnc_id": 1499,
"hgvs_c": "c.1002A>T",
"hgvs_p": "p.Glu334Asp",
"transcript": "ENST00000695719.1",
"protein_id": "ENSP00000512117.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 383,
"cds_start": 1002,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695719.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP1",
"gene_hgnc_id": 1499,
"hgvs_c": "c.1065A>T",
"hgvs_p": "p.Glu355Asp",
"transcript": "ENST00000695720.1",
"protein_id": "ENSP00000512118.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 375,
"cds_start": 1065,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695720.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP1",
"gene_hgnc_id": 1499,
"hgvs_c": "c.954A>T",
"hgvs_p": "p.Glu318Asp",
"transcript": "ENST00000527979.5",
"protein_id": "ENSP00000512112.1",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 367,
"cds_start": 954,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527979.5"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP1",
"gene_hgnc_id": 1499,
"hgvs_c": "c.948A>T",
"hgvs_p": "p.Glu316Asp",
"transcript": "ENST00000695715.1",
"protein_id": "ENSP00000512114.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 365,
"cds_start": 948,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695715.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP1",
"gene_hgnc_id": 1499,
"hgvs_c": "c.948A>T",
"hgvs_p": "p.Glu316Asp",
"transcript": "ENST00000695718.1",
"protein_id": "ENSP00000512116.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 365,
"cds_start": 948,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695718.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP1",
"gene_hgnc_id": 1499,
"hgvs_c": "c.948A>T",
"hgvs_p": "p.Glu316Asp",
"transcript": "ENST00000695721.1",
"protein_id": "ENSP00000512119.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 365,
"cds_start": 948,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695721.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP1",
"gene_hgnc_id": 1499,
"hgvs_c": "c.948A>T",
"hgvs_p": "p.Glu316Asp",
"transcript": "ENST00000695722.1",
"protein_id": "ENSP00000512120.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 365,
"cds_start": 948,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695722.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP1",
"gene_hgnc_id": 1499,
"hgvs_c": "c.921A>T",
"hgvs_p": "p.Glu307Asp",
"transcript": "ENST00000904258.1",
"protein_id": "ENSP00000574317.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 356,
"cds_start": 921,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904258.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP1",
"gene_hgnc_id": 1499,
"hgvs_c": "c.948A>T",
"hgvs_p": "p.Glu316Asp",
"transcript": "ENST00000695717.1",
"protein_id": "ENSP00000512115.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 336,
"cds_start": 948,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695717.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP1",
"gene_hgnc_id": 1499,
"hgvs_c": "c.858A>T",
"hgvs_p": "p.Glu286Asp",
"transcript": "ENST00000904260.1",
"protein_id": "ENSP00000574319.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 335,
"cds_start": 858,
"cds_end": null,
"cds_length": 1008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000904260.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CASP1",
"gene_hgnc_id": 1499,
"hgvs_c": "c.786A>T",
"hgvs_p": "p.Glu262Asp",
"transcript": "NM_033293.4",
"protein_id": "NP_150635.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 311,
"cds_start": 786,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033293.4"
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}