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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: 18-31522179-ATCCTCC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=31522179&ref=ATCCTCC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 31522179,
"ref": "ATCCTCC",
"alt": "A",
"effect": "stop_gained,disruptive_inframe_deletion",
"transcript": "ENST00000261590.13",
"consequences": [
{
"aa_ref": "YPP",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.621_626delTCCTCC",
"hgvs_p": "p.Tyr207_Pro209delinsTer",
"transcript": "NM_001943.5",
"protein_id": "NP_001934.2",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1118,
"cds_start": 621,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 5697,
"mane_select": "ENST00000261590.13",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YPP",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.621_626delTCCTCC",
"hgvs_p": "p.Tyr207_Pro209delinsTer",
"transcript": "ENST00000261590.13",
"protein_id": "ENSP00000261590.8",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 1118,
"cds_start": 621,
"cds_end": null,
"cds_length": 3357,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 5697,
"mane_select": "NM_001943.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YPP",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.612_617delTCCTCC",
"hgvs_p": "p.Tyr204_Pro206delinsTer",
"transcript": "ENST00000713817.1",
"protein_id": "ENSP00000519121.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 1115,
"cds_start": 612,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 5944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YPP",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.612_617delTCCTCC",
"hgvs_p": "p.Tyr204_Pro206delinsTer",
"transcript": "ENST00000713819.1",
"protein_id": "ENSP00000519123.1",
"transcript_support_level": null,
"aa_start": 204,
"aa_end": null,
"aa_length": 1115,
"cds_start": 612,
"cds_end": null,
"cds_length": 3348,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 5978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YPP",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.597_602delTCCTCC",
"hgvs_p": "p.Tyr199_Pro201delinsTer",
"transcript": "ENST00000713822.1",
"protein_id": "ENSP00000519126.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 1110,
"cds_start": 597,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 1069,
"cdna_end": null,
"cdna_length": 5913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YPP",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"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.585_590delTCCTCC",
"hgvs_p": "p.Tyr195_Pro197delinsTer",
"transcript": "ENST00000713821.1",
"protein_id": "ENSP00000519125.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 1106,
"cds_start": 585,
"cds_end": null,
"cds_length": 3321,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 5739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YPP",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.621_626delTCCTCC",
"hgvs_p": "p.Tyr207_Pro209delinsTer",
"transcript": "ENST00000713823.1",
"protein_id": "ENSP00000519127.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1087,
"cds_start": 621,
"cds_end": null,
"cds_length": 3264,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 5466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YPP",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"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.459_464delTCCTCC",
"hgvs_p": "p.Tyr153_Pro155delinsTer",
"transcript": "ENST00000713824.1",
"protein_id": "ENSP00000519128.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1064,
"cds_start": 459,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 519,
"cdna_end": null,
"cdna_length": 5364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YPP",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.459_464delTCCTCC",
"hgvs_p": "p.Tyr153_Pro155delinsTer",
"transcript": "ENST00000713825.1",
"protein_id": "ENSP00000519129.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 1018,
"cds_start": 459,
"cds_end": null,
"cds_length": 3057,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 5198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YPP",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.621_626delTCCTCC",
"hgvs_p": "p.Tyr207_Pro209delinsTer",
"transcript": "ENST00000713818.1",
"protein_id": "ENSP00000519122.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1007,
"cds_start": 621,
"cds_end": null,
"cds_length": 3024,
"cdna_start": 921,
"cdna_end": null,
"cdna_length": 5421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YPP",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.87_92delTCCTCC",
"hgvs_p": "p.Tyr29_Pro31delinsTer",
"transcript": "ENST00000713762.1",
"protein_id": "ENSP00000519063.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 940,
"cds_start": 87,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 900,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YPP",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"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.87_92delTCCTCC",
"hgvs_p": "p.Tyr29_Pro31delinsTer",
"transcript": "ENST00000713779.1",
"protein_id": "ENSP00000519081.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 940,
"cds_start": 87,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 5465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YPP",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.87_92delTCCTCC",
"hgvs_p": "p.Tyr29_Pro31delinsTer",
"transcript": "ENST00000713780.1",
"protein_id": "ENSP00000519082.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 940,
"cds_start": 87,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 967,
"cdna_end": null,
"cdna_length": 8311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YPP",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.87_92delTCCTCC",
"hgvs_p": "p.Tyr29_Pro31delinsTer",
"transcript": "ENST00000713835.1",
"protein_id": "ENSP00000519140.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 940,
"cds_start": 87,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 628,
"cdna_end": null,
"cdna_length": 5472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YPP",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.621_626delTCCTCC",
"hgvs_p": "p.Tyr207_Pro209delinsTer",
"transcript": "ENST00000713832.1",
"protein_id": "ENSP00000519137.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 805,
"cds_start": 621,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 5585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YPP",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.621_626delTCCTCC",
"hgvs_p": "p.Tyr207_Pro209delinsTer",
"transcript": "ENST00000713783.1",
"protein_id": "ENSP00000519085.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 294,
"cds_start": 621,
"cds_end": null,
"cds_length": 885,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YPP",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.621_626delTCCTCC",
"hgvs_p": "p.Tyr207_Pro209delinsTer",
"transcript": "ENST00000683654.2",
"protein_id": "ENSP00000506971.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 248,
"cds_start": 621,
"cds_end": null,
"cds_length": 747,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 971,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YPP",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.621_626delTCCTCC",
"hgvs_p": "p.Tyr207_Pro209delinsTer",
"transcript": "ENST00000682241.3",
"protein_id": "ENSP00000507600.2",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 241,
"cds_start": 621,
"cds_end": null,
"cds_length": 726,
"cdna_start": 811,
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"cdna_length": 1156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YPP",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.621_626delTCCTCC",
"hgvs_p": "p.Tyr207_Pro209delinsTer",
"transcript": "ENST00000585206.1",
"protein_id": "ENSP00000462503.1",
"transcript_support_level": 2,
"aa_start": 207,
"aa_end": null,
"aa_length": 232,
"cds_start": 621,
"cds_end": null,
"cds_length": 699,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 1081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YPP",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained",
"disruptive_inframe_deletion"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "c.87_92delTCCTCC",
"hgvs_p": "p.Tyr29_Pro31delinsTer",
"transcript": "XM_047437315.1",
"protein_id": "XP_047293271.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 940,
"cds_start": 87,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 734,
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSG2",
"gene_hgnc_id": 3049,
"hgvs_c": "n.452_457delTCCTCC",
"hgvs_p": null,
"transcript": "ENST00000682087.2",
"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": 1326,
"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": 4,
"exon_rank_end": null,
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{
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],
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:2 US:1",
"phenotype_combined": "Arrhythmogenic right ventricular dysplasia 10|Cardiomyopathy|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}