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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: 18-31546031-ACTC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=31546031&ref=ACTC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 31546031,
"ref": "ACTC",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_001943.5",
"consequences": [
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.2649_2651delCTC",
"hgvs_p": "p.Ser884del",
"transcript": "NM_001943.5",
"protein_id": "NP_001934.2",
"transcript_support_level": null,
"aa_start": 883,
"aa_end": null,
"aa_length": 1118,
"cds_start": 2649,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 2724,
"cdna_end": null,
"cdna_length": 5697,
"mane_select": "ENST00000261590.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001943.5"
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.2649_2651delCTC",
"hgvs_p": "p.Ser884del",
"transcript": "ENST00000261590.13",
"protein_id": "ENSP00000261590.8",
"transcript_support_level": 1,
"aa_start": 883,
"aa_end": null,
"aa_length": 1118,
"cds_start": 2649,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 2724,
"cdna_end": null,
"cdna_length": 5697,
"mane_select": "NM_001943.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261590.13"
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.2640_2642delCTC",
"hgvs_p": "p.Ser881del",
"transcript": "ENST00000713817.1",
"protein_id": "ENSP00000519121.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2640,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 3128,
"cdna_end": null,
"cdna_length": 5944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713817.1"
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.2640_2642delCTC",
"hgvs_p": "p.Ser881del",
"transcript": "ENST00000713819.1",
"protein_id": "ENSP00000519123.1",
"transcript_support_level": null,
"aa_start": 880,
"aa_end": null,
"aa_length": 1115,
"cds_start": 2640,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 3162,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713819.1"
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.2625_2627delCTC",
"hgvs_p": "p.Ser876del",
"transcript": "ENST00000713822.1",
"protein_id": "ENSP00000519126.1",
"transcript_support_level": null,
"aa_start": 875,
"aa_end": null,
"aa_length": 1110,
"cds_start": 2625,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 3097,
"cdna_end": null,
"cdna_length": 5913,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713822.1"
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.2613_2615delCTC",
"hgvs_p": "p.Ser872del",
"transcript": "ENST00000713821.1",
"protein_id": "ENSP00000519125.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1106,
"cds_start": 2613,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 2912,
"cdna_end": null,
"cdna_length": 5739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713821.1"
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.2556_2558delCTC",
"hgvs_p": "p.Ser853del",
"transcript": "ENST00000713823.1",
"protein_id": "ENSP00000519127.1",
"transcript_support_level": null,
"aa_start": 852,
"aa_end": null,
"aa_length": 1087,
"cds_start": 2556,
"cds_end": null,
"cds_length": 3264,
"cdna_start": 2644,
"cdna_end": null,
"cdna_length": 5466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713823.1"
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.2511_2513delCTC",
"hgvs_p": "p.Ser838del",
"transcript": "ENST00000856883.1",
"protein_id": "ENSP00000526942.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 1072,
"cds_start": 2511,
"cds_end": null,
"cds_length": 3219,
"cdna_start": 2574,
"cdna_end": null,
"cdna_length": 4242,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856883.1"
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.2487_2489delCTC",
"hgvs_p": "p.Ser830del",
"transcript": "ENST00000713824.1",
"protein_id": "ENSP00000519128.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2487,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 2547,
"cdna_end": null,
"cdna_length": 5364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713824.1"
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.2349_2351delCTC",
"hgvs_p": "p.Ser784del",
"transcript": "ENST00000713825.1",
"protein_id": "ENSP00000519129.1",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2349,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 2382,
"cdna_end": null,
"cdna_length": 5198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713825.1"
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.2316_2318delCTC",
"hgvs_p": "p.Ser773del",
"transcript": "ENST00000713818.1",
"protein_id": "ENSP00000519122.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 1007,
"cds_start": 2316,
"cds_end": null,
"cds_length": 3024,
"cdna_start": 2616,
"cdna_end": null,
"cdna_length": 5421,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713818.1"
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.2115_2117delCTC",
"hgvs_p": "p.Ser706del",
"transcript": "ENST00000713762.1",
"protein_id": "ENSP00000519063.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 940,
"cds_start": 2115,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2928,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713762.1"
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.2115_2117delCTC",
"hgvs_p": "p.Ser706del",
"transcript": "ENST00000713779.1",
"protein_id": "ENSP00000519081.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 940,
"cds_start": 2115,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2649,
"cdna_end": null,
"cdna_length": 5465,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713779.1"
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.2115_2117delCTC",
"hgvs_p": "p.Ser706del",
"transcript": "ENST00000713780.1",
"protein_id": "ENSP00000519082.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 940,
"cds_start": 2115,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2995,
"cdna_end": null,
"cdna_length": 8311,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713780.1"
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.2115_2117delCTC",
"hgvs_p": "p.Ser706del",
"transcript": "ENST00000713835.1",
"protein_id": "ENSP00000519140.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 940,
"cds_start": 2115,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2656,
"cdna_end": null,
"cdna_length": 5472,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713835.1"
},
{
"aa_ref": "SS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"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.2115_2117delCTC",
"hgvs_p": "p.Ser706del",
"transcript": "XM_047437315.1",
"protein_id": "XP_047293271.1",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 940,
"cds_start": 2115,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2762,
"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": 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.*227_*229delCTC",
"hgvs_p": null,
"transcript": "ENST00000713832.1",
"protein_id": "ENSP00000519137.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": null,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5585,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713832.1"
},
{
"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.*2315_*2317delCTC",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4177,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000713767.1"
},
{
"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.*1806_*1808delCTC",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6064,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000713781.1"
},
{
"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.*1806_*1808delCTC",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5969,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000713784.1"
},
{
"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.*2751_*2753delCTC",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5974,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000713820.1"
},
{
"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,
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],
"gene_symbol": "DSG2",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.662,
"phylop100way_prediction": "Benign",
"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": "PM4_Supporting",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001943.5",
"gene_symbol": "DSG2",
"hgnc_id": 3049,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2649_2651delCTC",
"hgvs_p": "p.Ser884del"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PVS1_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000812971.1",
"gene_symbol": "DSG2-AS1",
"hgnc_id": 51311,
"effects": [
"splice_donor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.154_155+1delGAG",
"hgvs_p": null
}
],
"clinvar_disease": "Arrhythmogenic right ventricular dysplasia 10,Cardiovascular phenotype,Dilated cardiomyopathy 1BB,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "not provided|Arrhythmogenic right ventricular dysplasia 10|Cardiovascular phenotype|Dilated cardiomyopathy 1BB;Arrhythmogenic right ventricular dysplasia 10",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}