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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: 18-31545746-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=31545746&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DSG2",
"hgnc_id": 3049,
"hgvs_c": "c.2360A>C",
"hgvs_p": "p.Asp787Ala",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001943.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "DSG2-AS1",
"hgnc_id": 51311,
"hgvs_c": "n.1506T>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NR_045216.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1105,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.1,
"chr": "18",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Cardiomyopathy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4757298231124878,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1118,
"aa_ref": "D",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5697,
"cdna_start": 2435,
"cds_end": null,
"cds_length": 3357,
"cds_start": 2360,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001943.5",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.2360A>C",
"hgvs_p": "p.Asp787Ala",
"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": "A",
"aa_end": null,
"aa_length": 1118,
"aa_ref": "D",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5697,
"cdna_start": 2435,
"cds_end": null,
"cds_length": 3357,
"cds_start": 2360,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000261590.13",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.2360A>C",
"hgvs_p": "p.Asp787Ala",
"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": "A",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "D",
"aa_start": 784,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5944,
"cdna_start": 2839,
"cds_end": null,
"cds_length": 3348,
"cds_start": 2351,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000713817.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.2351A>C",
"hgvs_p": "p.Asp784Ala",
"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": "A",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "D",
"aa_start": 784,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5978,
"cdna_start": 2873,
"cds_end": null,
"cds_length": 3348,
"cds_start": 2351,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000713819.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.2351A>C",
"hgvs_p": "p.Asp784Ala",
"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": "A",
"aa_end": null,
"aa_length": 1110,
"aa_ref": "D",
"aa_start": 779,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5913,
"cdna_start": 2808,
"cds_end": null,
"cds_length": 3333,
"cds_start": 2336,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000713822.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.2336A>C",
"hgvs_p": "p.Asp779Ala",
"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": "A",
"aa_end": null,
"aa_length": 1106,
"aa_ref": "D",
"aa_start": 775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5739,
"cdna_start": 2623,
"cds_end": null,
"cds_length": 3321,
"cds_start": 2324,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000713821.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.2324A>C",
"hgvs_p": "p.Asp775Ala",
"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": "A",
"aa_end": null,
"aa_length": 1087,
"aa_ref": "D",
"aa_start": 756,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5466,
"cdna_start": 2355,
"cds_end": null,
"cds_length": 3264,
"cds_start": 2267,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000713823.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.2267A>C",
"hgvs_p": "p.Asp756Ala",
"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": "A",
"aa_end": null,
"aa_length": 1072,
"aa_ref": "D",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4242,
"cdna_start": 2285,
"cds_end": null,
"cds_length": 3219,
"cds_start": 2222,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000856883.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.2222A>C",
"hgvs_p": "p.Asp741Ala",
"intron_rank": null,
"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": "A",
"aa_end": null,
"aa_length": 1064,
"aa_ref": "D",
"aa_start": 733,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5364,
"cdna_start": 2258,
"cds_end": null,
"cds_length": 3195,
"cds_start": 2198,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000713824.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.2198A>C",
"hgvs_p": "p.Asp733Ala",
"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": "A",
"aa_end": null,
"aa_length": 1018,
"aa_ref": "D",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5198,
"cdna_start": 2093,
"cds_end": null,
"cds_length": 3057,
"cds_start": 2060,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000713825.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.2060A>C",
"hgvs_p": "p.Asp687Ala",
"intron_rank": null,
"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": "A",
"aa_end": null,
"aa_length": 1007,
"aa_ref": "D",
"aa_start": 676,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5421,
"cdna_start": 2327,
"cds_end": null,
"cds_length": 3024,
"cds_start": 2027,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000713818.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.2027A>C",
"hgvs_p": "p.Asp676Ala",
"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": "A",
"aa_end": null,
"aa_length": 940,
"aa_ref": "D",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5749,
"cdna_start": 2639,
"cds_end": null,
"cds_length": 2823,
"cds_start": 1826,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000713762.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.1826A>C",
"hgvs_p": "p.Asp609Ala",
"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": "A",
"aa_end": null,
"aa_length": 940,
"aa_ref": "D",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5465,
"cdna_start": 2360,
"cds_end": null,
"cds_length": 2823,
"cds_start": 1826,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000713779.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.1826A>C",
"hgvs_p": "p.Asp609Ala",
"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": "A",
"aa_end": null,
"aa_length": 940,
"aa_ref": "D",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8311,
"cdna_start": 2706,
"cds_end": null,
"cds_length": 2823,
"cds_start": 1826,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000713780.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.1826A>C",
"hgvs_p": "p.Asp609Ala",
"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": "A",
"aa_end": null,
"aa_length": 940,
"aa_ref": "D",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5472,
"cdna_start": 2367,
"cds_end": null,
"cds_length": 2823,
"cds_start": 1826,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000713835.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.1826A>C",
"hgvs_p": "p.Asp609Ala",
"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": "L",
"aa_end": null,
"aa_length": 805,
"aa_ref": "M",
"aa_start": 786,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5585,
"cdna_start": 2480,
"cds_end": null,
"cds_length": 2418,
"cds_start": 2356,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000713832.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.2356A>C",
"hgvs_p": "p.Met786Leu",
"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": "A",
"aa_end": null,
"aa_length": 940,
"aa_ref": "D",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5735,
"cdna_start": 2473,
"cds_end": null,
"cds_length": 2823,
"cds_start": 1826,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047437315.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "c.1826A>C",
"hgvs_p": "p.Asp609Ala",
"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": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2024,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000583706.5",
"gene_hgnc_id": 51311,
"gene_symbol": "DSG2-AS1",
"hgvs_c": "n.1544T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000583706.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1254,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000657343.1",
"gene_hgnc_id": 51311,
"gene_symbol": "DSG2-AS1",
"hgvs_c": "n.857T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000657343.1",
"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": 15,
"exon_rank_end": null,
"feature": "ENST00000713767.1",
"gene_hgnc_id": 3049,
"gene_symbol": "DSG2",
"hgvs_c": "n.*2026A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000519068.1",
"strand": true,
"transcript": "ENST00000713767.1",
"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": 6064,
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