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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: 22-33761403-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=33761403&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 33761403,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000397394.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "NM_133642.5",
"protein_id": "NP_598397.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 756,
"cds_start": 74,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 4753,
"mane_select": "ENST00000397394.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "ENST00000397394.8",
"protein_id": "ENSP00000380549.2",
"transcript_support_level": 5,
"aa_start": 25,
"aa_end": null,
"aa_length": 756,
"cds_start": 74,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 4753,
"mane_select": "NM_133642.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "ENST00000354992.7",
"protein_id": "ENSP00000347088.2",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 756,
"cds_start": 74,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "ENST00000402320.6",
"protein_id": "ENSP00000385223.1",
"transcript_support_level": 1,
"aa_start": 25,
"aa_end": null,
"aa_length": 704,
"cds_start": 74,
"cds_end": null,
"cds_length": 2115,
"cdna_start": 576,
"cdna_end": null,
"cdna_length": 3967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "NM_001362949.2",
"protein_id": "NP_001349878.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 756,
"cds_start": 74,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 423,
"cdna_end": null,
"cdna_length": 4538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "NM_001362951.2",
"protein_id": "NP_001349880.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 756,
"cds_start": 74,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 4358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "NM_001362953.2",
"protein_id": "NP_001349882.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 756,
"cds_start": 74,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 4475,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "NM_001378624.1",
"protein_id": "NP_001365553.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 756,
"cds_start": 74,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 306,
"cdna_end": null,
"cdna_length": 4421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "NM_001378625.1",
"protein_id": "NP_001365554.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 756,
"cds_start": 74,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 4556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "NM_001378626.1",
"protein_id": "NP_001365555.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 756,
"cds_start": 74,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 4493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "NM_004737.7",
"protein_id": "NP_004728.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 756,
"cds_start": 74,
"cds_end": null,
"cds_length": 2271,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 4816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "ENST00000413114.6",
"protein_id": "ENSP00000415546.2",
"transcript_support_level": 4,
"aa_start": 25,
"aa_end": null,
"aa_length": 756,
"cds_start": 74,
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"cds_length": 2271,
"cdna_start": 440,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "ENST00000675416.1",
"protein_id": "ENSP00000502826.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 756,
"cds_start": 74,
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"cds_length": 2271,
"cdna_start": 277,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "ENST00000676070.1",
"protein_id": "ENSP00000502152.1",
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "ENST00000676132.1",
"protein_id": "ENSP00000501854.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 756,
"cds_start": 74,
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"cdna_start": 275,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "ENST00000676370.1",
"protein_id": "ENSP00000502238.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 1,
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"exon_count": 13,
"intron_rank": null,
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"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "ENST00000674668.1",
"protein_id": "ENSP00000502103.1",
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"aa_start": 25,
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"aa_length": 714,
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"cdna_start": 156,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "NM_001378627.1",
"protein_id": "NP_001365556.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 707,
"cds_start": 74,
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"cdna_start": 243,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "NM_001378628.1",
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},
{
"aa_ref": "T",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "ENST00000674789.1",
"protein_id": "ENSP00000501941.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "NM_001378629.1",
"protein_id": "NP_001365558.1",
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"aa_start": 25,
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"aa_length": 704,
"cds_start": 74,
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"cdna_start": 638,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile",
"transcript": "ENST00000676126.1",
"protein_id": "ENSP00000501966.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 663,
"cds_start": 74,
"cds_end": null,
"cds_length": 1992,
"cdna_start": 156,
"cdna_end": null,
"cdna_length": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LARGE1",
"gene_hgnc_id": 6511,
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"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000397394.8",
"gene_symbol": "LARGE1",
"hgnc_id": 6511,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.74C>T",
"hgvs_p": "p.Thr25Ile"
}
],
"clinvar_disease": "Muscular dystrophy-dystroglycanopathy type B6",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Muscular dystrophy-dystroglycanopathy type B6",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}