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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: 18-31521165-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=31521165&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 31521165,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001943.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Val149Ile",
"transcript": "NM_001943.5",
"protein_id": "NP_001934.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1118,
"cds_start": 445,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 5697,
"mane_select": "ENST00000261590.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001943.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Val149Ile",
"transcript": "ENST00000261590.13",
"protein_id": "ENSP00000261590.8",
"transcript_support_level": 1,
"aa_start": 149,
"aa_end": null,
"aa_length": 1118,
"cds_start": 445,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 520,
"cdna_end": null,
"cdna_length": 5697,
"mane_select": "NM_001943.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261590.13"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.436G>A",
"hgvs_p": "p.Val146Ile",
"transcript": "ENST00000713817.1",
"protein_id": "ENSP00000519121.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 1115,
"cds_start": 436,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 924,
"cdna_end": null,
"cdna_length": 5944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713817.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.436G>A",
"hgvs_p": "p.Val146Ile",
"transcript": "ENST00000713819.1",
"protein_id": "ENSP00000519123.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 1115,
"cds_start": 436,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713819.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.421G>A",
"hgvs_p": "p.Val141Ile",
"transcript": "ENST00000713822.1",
"protein_id": "ENSP00000519126.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 1110,
"cds_start": 421,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 893,
"cdna_end": null,
"cdna_length": 5913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713822.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.409G>A",
"hgvs_p": "p.Val137Ile",
"transcript": "ENST00000713821.1",
"protein_id": "ENSP00000519125.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 1106,
"cds_start": 409,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 5739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713821.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Val149Ile",
"transcript": "ENST00000713823.1",
"protein_id": "ENSP00000519127.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1087,
"cds_start": 445,
"cds_end": null,
"cds_length": 3264,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 5466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713823.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Val149Ile",
"transcript": "ENST00000856883.1",
"protein_id": "ENSP00000526942.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1072,
"cds_start": 445,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 4242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856883.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.283G>A",
"hgvs_p": "p.Val95Ile",
"transcript": "ENST00000713824.1",
"protein_id": "ENSP00000519128.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 1064,
"cds_start": 283,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 5364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713824.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.283G>A",
"hgvs_p": "p.Val95Ile",
"transcript": "ENST00000713825.1",
"protein_id": "ENSP00000519129.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 1018,
"cds_start": 283,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 5198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713825.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Val149Ile",
"transcript": "ENST00000713818.1",
"protein_id": "ENSP00000519122.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 1007,
"cds_start": 445,
"cds_end": null,
"cds_length": 3024,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 5421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713818.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Val149Ile",
"transcript": "ENST00000713832.1",
"protein_id": "ENSP00000519137.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 805,
"cds_start": 445,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 5585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713832.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Val149Ile",
"transcript": "ENST00000713783.1",
"protein_id": "ENSP00000519085.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 294,
"cds_start": 445,
"cds_end": null,
"cds_length": 885,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713783.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Val149Ile",
"transcript": "ENST00000683654.2",
"protein_id": "ENSP00000506971.1",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 248,
"cds_start": 445,
"cds_end": null,
"cds_length": 747,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 971,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683654.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Val149Ile",
"transcript": "ENST00000682241.3",
"protein_id": "ENSP00000507600.2",
"transcript_support_level": null,
"aa_start": 149,
"aa_end": null,
"aa_length": 241,
"cds_start": 445,
"cds_end": null,
"cds_length": 726,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682241.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.445G>A",
"hgvs_p": "p.Val149Ile",
"transcript": "ENST00000585206.1",
"protein_id": "ENSP00000462503.1",
"transcript_support_level": 2,
"aa_start": 149,
"aa_end": null,
"aa_length": 232,
"cds_start": 445,
"cds_end": null,
"cds_length": 699,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 1081,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585206.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.-90G>A",
"hgvs_p": null,
"transcript": "ENST00000713762.1",
"protein_id": "ENSP00000519063.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 940,
"cds_start": null,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713762.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.-90G>A",
"hgvs_p": null,
"transcript": "ENST00000713779.1",
"protein_id": "ENSP00000519081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 940,
"cds_start": null,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713779.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.-90G>A",
"hgvs_p": null,
"transcript": "ENST00000713780.1",
"protein_id": "ENSP00000519082.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 940,
"cds_start": null,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713780.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.-90G>A",
"hgvs_p": null,
"transcript": "ENST00000713835.1",
"protein_id": "ENSP00000519140.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 940,
"cds_start": null,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713835.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.-90G>A",
"hgvs_p": null,
"transcript": "XM_047437315.1",
"protein_id": "XP_047293271.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 940,
"cds_start": null,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437315.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "n.276G>A",
"hgvs_p": null,
"transcript": "ENST00000682087.2",
"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": 1326,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:6",
"phenotype_combined": "Arrhythmogenic right ventricular cardiomyopathy|Arrhythmogenic right ventricular dysplasia 10|Cardiomyopathy|not provided|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}