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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: 18-31524461-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=31524461&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DSG2",
"hgnc_id": 3049,
"hgvs_c": "c.704A>G",
"hgvs_p": "p.Tyr235Cys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001943.5",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_score": 6,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Uncertain_significance",
"alphamissense_score": 0.5628,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.33,
"chr": "18",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9887259006500244,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1118,
"aa_ref": "Y",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5697,
"cdna_start": 779,
"cds_end": null,
"cds_length": 3357,
"cds_start": 704,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001943.5",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.704A>G",
"hgvs_p": "p.Tyr235Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261590.13",
"protein_coding": true,
"protein_id": "NP_001934.2",
"strand": true,
"transcript": "NM_001943.5",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1118,
"aa_ref": "Y",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5697,
"cdna_start": 779,
"cds_end": null,
"cds_length": 3357,
"cds_start": 704,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000261590.13",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.704A>G",
"hgvs_p": "p.Tyr235Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001943.5",
"protein_coding": true,
"protein_id": "ENSP00000261590.8",
"strand": true,
"transcript": "ENST00000261590.13",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "Y",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5944,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 3348,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000713817.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.695A>G",
"hgvs_p": "p.Tyr232Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519121.1",
"strand": true,
"transcript": "ENST00000713817.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "Y",
"aa_start": 232,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5978,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 3348,
"cds_start": 695,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000713819.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.695A>G",
"hgvs_p": "p.Tyr232Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519123.1",
"strand": true,
"transcript": "ENST00000713819.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1110,
"aa_ref": "Y",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5913,
"cdna_start": 1152,
"cds_end": null,
"cds_length": 3333,
"cds_start": 680,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000713822.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.680A>G",
"hgvs_p": "p.Tyr227Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519126.1",
"strand": true,
"transcript": "ENST00000713822.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "Y",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5739,
"cdna_start": 967,
"cds_end": null,
"cds_length": 3321,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000713821.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.668A>G",
"hgvs_p": "p.Tyr223Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519125.1",
"strand": true,
"transcript": "ENST00000713821.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1087,
"aa_ref": "Y",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5466,
"cdna_start": 792,
"cds_end": null,
"cds_length": 3264,
"cds_start": 704,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000713823.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.704A>G",
"hgvs_p": "p.Tyr235Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519127.1",
"strand": true,
"transcript": "ENST00000713823.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1064,
"aa_ref": "Y",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5364,
"cdna_start": 602,
"cds_end": null,
"cds_length": 3195,
"cds_start": 542,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000713824.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.542A>G",
"hgvs_p": "p.Tyr181Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519128.1",
"strand": true,
"transcript": "ENST00000713824.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1007,
"aa_ref": "Y",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5421,
"cdna_start": 1004,
"cds_end": null,
"cds_length": 3024,
"cds_start": 704,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000713818.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.704A>G",
"hgvs_p": "p.Tyr235Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519122.1",
"strand": true,
"transcript": "ENST00000713818.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 940,
"aa_ref": "Y",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5749,
"cdna_start": 983,
"cds_end": null,
"cds_length": 2823,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000713762.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Tyr57Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519063.1",
"strand": true,
"transcript": "ENST00000713762.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 940,
"aa_ref": "Y",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5465,
"cdna_start": 704,
"cds_end": null,
"cds_length": 2823,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000713779.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Tyr57Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519081.1",
"strand": true,
"transcript": "ENST00000713779.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 940,
"aa_ref": "Y",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8311,
"cdna_start": 1050,
"cds_end": null,
"cds_length": 2823,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000713780.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Tyr57Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519082.1",
"strand": true,
"transcript": "ENST00000713780.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 940,
"aa_ref": "Y",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5472,
"cdna_start": 711,
"cds_end": null,
"cds_length": 2823,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000713835.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Tyr57Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519140.1",
"strand": true,
"transcript": "ENST00000713835.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 805,
"aa_ref": "Y",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5585,
"cdna_start": 828,
"cds_end": null,
"cds_length": 2418,
"cds_start": 704,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000713832.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.704A>G",
"hgvs_p": "p.Tyr235Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519137.1",
"strand": true,
"transcript": "ENST00000713832.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 294,
"aa_ref": "Y",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 939,
"cdna_start": 713,
"cds_end": null,
"cds_length": 885,
"cds_start": 704,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000713783.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.704A>G",
"hgvs_p": "p.Tyr235Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519085.1",
"strand": true,
"transcript": "ENST00000713783.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 940,
"aa_ref": "Y",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5735,
"cdna_start": 817,
"cds_end": null,
"cds_length": 2823,
"cds_start": 170,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047437315.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.170A>G",
"hgvs_p": "p.Tyr57Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293271.1",
"strand": true,
"transcript": "XM_047437315.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1072,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4242,
"cdna_start": null,
"cds_end": null,
"cds_length": 3219,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000856883.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.691-242A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526942.1",
"strand": true,
"transcript": "ENST00000856883.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1018,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5198,
"cdna_start": null,
"cds_end": null,
"cds_length": 3057,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000713825.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.529-242A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519129.1",
"strand": true,
"transcript": "ENST00000713825.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1326,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000682087.2",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "n.535A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000682087.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3173,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000683614.2",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "n.535A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000683614.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4177,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000713767.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "n.*370A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
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