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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: 18-58733376-TCTTA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=58733376&ref=TCTTA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 58733376,
"ref": "TCTTA",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_006785.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.1223-20_1223-17delCTTA",
"hgvs_p": null,
"transcript": "NM_006785.4",
"protein_id": "NP_006776.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 824,
"cds_start": null,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000649217.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006785.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.1223-20_1223-17delCTTA",
"hgvs_p": null,
"transcript": "ENST00000649217.2",
"protein_id": "ENSP00000497997.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 824,
"cds_start": null,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006785.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649217.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.1190-20_1190-17delCTTA",
"hgvs_p": null,
"transcript": "ENST00000345724.7",
"protein_id": "ENSP00000304161.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 813,
"cds_start": null,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345724.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.1346-20_1346-17delCTTA",
"hgvs_p": null,
"transcript": "ENST00000968608.1",
"protein_id": "ENSP00000638667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 865,
"cds_start": null,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968608.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.1223-20_1223-17delCTTA",
"hgvs_p": null,
"transcript": "ENST00000851939.1",
"protein_id": "ENSP00000521998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 850,
"cds_start": null,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851939.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.1214-20_1214-17delCTTA",
"hgvs_p": null,
"transcript": "ENST00000968610.1",
"protein_id": "ENSP00000638669.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 821,
"cds_start": null,
"cds_end": null,
"cds_length": 2466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968610.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.1190-20_1190-17delCTTA",
"hgvs_p": null,
"transcript": "NM_173844.3",
"protein_id": "NP_776216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 813,
"cds_start": null,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173844.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.1157-20_1157-17delCTTA",
"hgvs_p": null,
"transcript": "ENST00000968614.1",
"protein_id": "ENSP00000638673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 802,
"cds_start": null,
"cds_end": null,
"cds_length": 2409,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968614.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.950-20_950-17delCTTA",
"hgvs_p": null,
"transcript": "ENST00000968612.1",
"protein_id": "ENSP00000638671.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 733,
"cds_start": null,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968612.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.947-20_947-17delCTTA",
"hgvs_p": null,
"transcript": "ENST00000851940.1",
"protein_id": "ENSP00000521999.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": null,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851940.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.887-20_887-17delCTTA",
"hgvs_p": null,
"transcript": "ENST00000968611.1",
"protein_id": "ENSP00000638670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 712,
"cds_start": null,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968611.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.854-20_854-17delCTTA",
"hgvs_p": null,
"transcript": "ENST00000968613.1",
"protein_id": "ENSP00000638672.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 701,
"cds_start": null,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968613.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.650-20_650-17delCTTA",
"hgvs_p": null,
"transcript": "ENST00000968609.1",
"protein_id": "ENSP00000638668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": null,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968609.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.650-8488_650-8485delCTTA",
"hgvs_p": null,
"transcript": "ENST00000851941.1",
"protein_id": "ENSP00000522000.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 506,
"cds_start": null,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851941.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "c.*3-20_*3-17delCTTA",
"hgvs_p": null,
"transcript": "XM_011525794.2",
"protein_id": "XP_011524096.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 427,
"cds_start": null,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011525794.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267476",
"gene_hgnc_id": null,
"hgvs_c": "n.56+19295_56+19298delTAAG",
"hgvs_p": null,
"transcript": "ENST00000588835.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "pseudogene",
"feature": "ENST00000588835.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "n.*385-20_*385-17delCTTA",
"hgvs_p": null,
"transcript": "ENST00000648670.1",
"protein_id": "ENSP00000497173.1",
"transcript_support_level": null,
"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": "ENST00000648670.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "n.1092-20_1092-17delCTTA",
"hgvs_p": null,
"transcript": "ENST00000649125.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000649125.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "n.827-20_827-17delCTTA",
"hgvs_p": null,
"transcript": "ENST00000649202.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000649202.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "n.1223-20_1223-17delCTTA",
"hgvs_p": null,
"transcript": "ENST00000650045.1",
"protein_id": "ENSP00000497036.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000650045.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "n.1077-20_1077-17delCTTA",
"hgvs_p": null,
"transcript": "ENST00000697045.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000697045.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MALT1",
"gene_hgnc_id": 6819,
"hgvs_c": "n.375-20_375-17delCTTA",
"hgvs_p": null,
"transcript": "ENST00000697046.1",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000697046.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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"verdict": "Benign",
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{
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"verdict": "Benign",
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"effects": [
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],
"inheritance_mode": "",
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{
"score": -12,
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],
"inheritance_mode": "",
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],
"clinvar_disease": "Combined immunodeficiency due to MALT1 deficiency,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not provided|Combined immunodeficiency due to MALT1 deficiency",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}