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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: 18-31546094-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=31546094&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 31546094,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000261590.13",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.2708C>A",
"hgvs_p": "p.Thr903Asn",
"transcript": "NM_001943.5",
"protein_id": "NP_001934.2",
"transcript_support_level": null,
"aa_start": 903,
"aa_end": null,
"aa_length": 1118,
"cds_start": 2708,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 2783,
"cdna_end": null,
"cdna_length": 5697,
"mane_select": "ENST00000261590.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.2708C>A",
"hgvs_p": "p.Thr903Asn",
"transcript": "ENST00000261590.13",
"protein_id": "ENSP00000261590.8",
"transcript_support_level": 1,
"aa_start": 903,
"aa_end": null,
"aa_length": 1118,
"cds_start": 2708,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 2783,
"cdna_end": null,
"cdna_length": 5697,
"mane_select": "NM_001943.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.2699C>A",
"hgvs_p": "p.Thr900Asn",
"transcript": "ENST00000713817.1",
"protein_id": "ENSP00000519121.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2699,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 3187,
"cdna_end": null,
"cdna_length": 5944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.2699C>A",
"hgvs_p": "p.Thr900Asn",
"transcript": "ENST00000713819.1",
"protein_id": "ENSP00000519123.1",
"transcript_support_level": null,
"aa_start": 900,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2699,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 3221,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.2684C>A",
"hgvs_p": "p.Thr895Asn",
"transcript": "ENST00000713822.1",
"protein_id": "ENSP00000519126.1",
"transcript_support_level": null,
"aa_start": 895,
"aa_end": null,
"aa_length": 1110,
"cds_start": 2684,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 3156,
"cdna_end": null,
"cdna_length": 5913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.2672C>A",
"hgvs_p": "p.Thr891Asn",
"transcript": "ENST00000713821.1",
"protein_id": "ENSP00000519125.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1106,
"cds_start": 2672,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 2971,
"cdna_end": null,
"cdna_length": 5739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.2615C>A",
"hgvs_p": "p.Thr872Asn",
"transcript": "ENST00000713823.1",
"protein_id": "ENSP00000519127.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1087,
"cds_start": 2615,
"cds_end": null,
"cds_length": 3264,
"cdna_start": 2703,
"cdna_end": null,
"cdna_length": 5466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.2546C>A",
"hgvs_p": "p.Thr849Asn",
"transcript": "ENST00000713824.1",
"protein_id": "ENSP00000519128.1",
"transcript_support_level": null,
"aa_start": 849,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2546,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 2606,
"cdna_end": null,
"cdna_length": 5364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.2408C>A",
"hgvs_p": "p.Thr803Asn",
"transcript": "ENST00000713825.1",
"protein_id": "ENSP00000519129.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2408,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 2441,
"cdna_end": null,
"cdna_length": 5198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.2375C>A",
"hgvs_p": "p.Thr792Asn",
"transcript": "ENST00000713818.1",
"protein_id": "ENSP00000519122.1",
"transcript_support_level": null,
"aa_start": 792,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2375,
"cds_end": null,
"cds_length": 3024,
"cdna_start": 2675,
"cdna_end": null,
"cdna_length": 5421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.2174C>A",
"hgvs_p": "p.Thr725Asn",
"transcript": "ENST00000713762.1",
"protein_id": "ENSP00000519063.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 940,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2987,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.2174C>A",
"hgvs_p": "p.Thr725Asn",
"transcript": "ENST00000713779.1",
"protein_id": "ENSP00000519081.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 940,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2708,
"cdna_end": null,
"cdna_length": 5465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.2174C>A",
"hgvs_p": "p.Thr725Asn",
"transcript": "ENST00000713780.1",
"protein_id": "ENSP00000519082.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 940,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 3054,
"cdna_end": null,
"cdna_length": 8311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.2174C>A",
"hgvs_p": "p.Thr725Asn",
"transcript": "ENST00000713835.1",
"protein_id": "ENSP00000519140.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 940,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2715,
"cdna_end": null,
"cdna_length": 5472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.2174C>A",
"hgvs_p": "p.Thr725Asn",
"transcript": "XM_047437315.1",
"protein_id": "XP_047293271.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 940,
"cds_start": 2174,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2821,
"cdna_end": null,
"cdna_length": 5735,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "n.*2374C>A",
"hgvs_p": null,
"transcript": "ENST00000713767.1",
"protein_id": "ENSP00000519068.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "n.*1865C>A",
"hgvs_p": null,
"transcript": "ENST00000713781.1",
"protein_id": "ENSP00000519083.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "n.*1865C>A",
"hgvs_p": null,
"transcript": "ENST00000713784.1",
"protein_id": "ENSP00000519086.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5969,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "n.*2810C>A",
"hgvs_p": null,
"transcript": "ENST00000713820.1",
"protein_id": "ENSP00000519124.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 5974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "n.*2374C>A",
"hgvs_p": null,
"transcript": "ENST00000713833.1",
"protein_id": "ENSP00000519138.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "n.*1680C>A",
"hgvs_p": null,
"transcript": "ENST00000713834.1",
"protein_id": "ENSP00000519139.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2-AS1",
"gene_hgnc_id": 51311,
"hgvs_c": "n.94G>T",
"hgvs_p": null,
"transcript": "ENST00000812971.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 296,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
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"hgvs_c": "c.*286C>A",
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{
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{
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],
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}
],
"message": null
}