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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: 18-31546033-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=31546033&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 31546033,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000261590.13",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"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.2647T>C",
"hgvs_p": "p.Ser883Pro",
"transcript": "NM_001943.5",
"protein_id": "NP_001934.2",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 1118,
"cds_start": 2647,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 2722,
"cdna_end": null,
"cdna_length": 5697,
"mane_select": "ENST00000261590.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"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.2647T>C",
"hgvs_p": "p.Ser883Pro",
"transcript": "ENST00000261590.13",
"protein_id": "ENSP00000261590.8",
"transcript_support_level": 1,
"aa_start": 883,
"aa_end": null,
"aa_length": 1118,
"cds_start": 2647,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 2722,
"cdna_end": null,
"cdna_length": 5697,
"mane_select": "NM_001943.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"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.2638T>C",
"hgvs_p": "p.Ser880Pro",
"transcript": "ENST00000713817.1",
"protein_id": "ENSP00000519121.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2638,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 3126,
"cdna_end": null,
"cdna_length": 5944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"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.2638T>C",
"hgvs_p": "p.Ser880Pro",
"transcript": "ENST00000713819.1",
"protein_id": "ENSP00000519123.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2638,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 3160,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"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.2623T>C",
"hgvs_p": "p.Ser875Pro",
"transcript": "ENST00000713822.1",
"protein_id": "ENSP00000519126.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 1110,
"cds_start": 2623,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 3095,
"cdna_end": null,
"cdna_length": 5913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"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.2611T>C",
"hgvs_p": "p.Ser871Pro",
"transcript": "ENST00000713821.1",
"protein_id": "ENSP00000519125.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1106,
"cds_start": 2611,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 2910,
"cdna_end": null,
"cdna_length": 5739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"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.2554T>C",
"hgvs_p": "p.Ser852Pro",
"transcript": "ENST00000713823.1",
"protein_id": "ENSP00000519127.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 1087,
"cds_start": 2554,
"cds_end": null,
"cds_length": 3264,
"cdna_start": 2642,
"cdna_end": null,
"cdna_length": 5466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"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.2485T>C",
"hgvs_p": "p.Ser829Pro",
"transcript": "ENST00000713824.1",
"protein_id": "ENSP00000519128.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2485,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 2545,
"cdna_end": null,
"cdna_length": 5364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"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.2347T>C",
"hgvs_p": "p.Ser783Pro",
"transcript": "ENST00000713825.1",
"protein_id": "ENSP00000519129.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2347,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 2380,
"cdna_end": null,
"cdna_length": 5198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"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.2314T>C",
"hgvs_p": "p.Ser772Pro",
"transcript": "ENST00000713818.1",
"protein_id": "ENSP00000519122.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2314,
"cds_end": null,
"cds_length": 3024,
"cdna_start": 2614,
"cdna_end": null,
"cdna_length": 5421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"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.2113T>C",
"hgvs_p": "p.Ser705Pro",
"transcript": "ENST00000713762.1",
"protein_id": "ENSP00000519063.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 940,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2926,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"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.2113T>C",
"hgvs_p": "p.Ser705Pro",
"transcript": "ENST00000713779.1",
"protein_id": "ENSP00000519081.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 940,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2647,
"cdna_end": null,
"cdna_length": 5465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"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.2113T>C",
"hgvs_p": "p.Ser705Pro",
"transcript": "ENST00000713780.1",
"protein_id": "ENSP00000519082.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 940,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2993,
"cdna_end": null,
"cdna_length": 8311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"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.2113T>C",
"hgvs_p": "p.Ser705Pro",
"transcript": "ENST00000713835.1",
"protein_id": "ENSP00000519140.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 940,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2654,
"cdna_end": null,
"cdna_length": 5472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"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.2113T>C",
"hgvs_p": "p.Ser705Pro",
"transcript": "XM_047437315.1",
"protein_id": "XP_047293271.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 940,
"cds_start": 2113,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2760,
"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.*2313T>C",
"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.*1804T>C",
"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.*1804T>C",
"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.*2749T>C",
"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,
"cds_length": null,
"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.*2313T>C",
"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.*1619T>C",
"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": [
"splice_region_variant",
"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.155A>G",
"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",
"gene_hgnc_id": 3049,
"hgvs_c": "c.*225T>C",
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"transcript": "ENST00000713832.1",
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],
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.556,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Benign",
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{
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"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
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"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000261590.13",
"gene_symbol": "DSG2",
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"effects": [
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],
"inheritance_mode": "AD,AR",
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"hgvs_p": "p.Ser883Pro"
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{
"score": -20,
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"criteria": [
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"BS1",
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],
"verdict": "Benign",
"transcript": "ENST00000812971.1",
"gene_symbol": "DSG2-AS1",
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"effects": [
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],
"inheritance_mode": "",
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],
"clinvar_disease": "Arrhythmogenic right ventricular cardiomyopathy,Arrhythmogenic right ventricular dysplasia 10,Cardiomyopathy,Dilated cardiomyopathy 1BB,Restrictive cardiomyopathy,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:12",
"phenotype_combined": "Cardiomyopathy|not specified|Arrhythmogenic right ventricular dysplasia 10|not provided|Cardiomyopathy;Restrictive cardiomyopathy|Arrhythmogenic right ventricular dysplasia 10;Dilated cardiomyopathy 1BB|Arrhythmogenic right ventricular cardiomyopathy",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}