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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: 9-108906409-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=108906409&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4_Strong",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ELP1",
"hgnc_id": 5959,
"hgvs_c": "c.1537G>A",
"hgvs_p": "p.Val513Ile",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_003640.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_score": -5,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.0655,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.78,
"chr": "9",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Familial dysautonomia,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.015873730182647705,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1332,
"aa_ref": "V",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5913,
"cdna_start": 1853,
"cds_end": null,
"cds_length": 3999,
"cds_start": 1537,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_003640.5",
"gene_hgnc_id": 5959,
"gene_symbol": "ELP1",
"hgvs_c": "c.1537G>A",
"hgvs_p": "p.Val513Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374647.10",
"protein_coding": true,
"protein_id": "NP_003631.2",
"strand": false,
"transcript": "NM_003640.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1332,
"aa_ref": "V",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5913,
"cdna_start": 1853,
"cds_end": null,
"cds_length": 3999,
"cds_start": 1537,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000374647.10",
"gene_hgnc_id": 5959,
"gene_symbol": "ELP1",
"hgvs_c": "c.1537G>A",
"hgvs_p": "p.Val513Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003640.5",
"protein_coding": true,
"protein_id": "ENSP00000363779.5",
"strand": false,
"transcript": "ENST00000374647.10",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 983,
"aa_ref": "V",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3823,
"cdna_start": 887,
"cds_end": null,
"cds_length": 2952,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000537196.1",
"gene_hgnc_id": 5959,
"gene_symbol": "ELP1",
"hgvs_c": "c.490G>A",
"hgvs_p": "p.Val164Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439367.1",
"strand": false,
"transcript": "ENST00000537196.1",
"transcript_support_level": 1
},
{
"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": 5073,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000495759.6",
"gene_hgnc_id": 5959,
"gene_symbol": "ELP1",
"hgvs_c": "n.*147G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000433514.2",
"strand": false,
"transcript": "ENST00000495759.6",
"transcript_support_level": 1
},
{
"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": 5073,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 31,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000495759.6",
"gene_hgnc_id": 5959,
"gene_symbol": "ELP1",
"hgvs_c": "n.*147G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000433514.2",
"strand": false,
"transcript": "ENST00000495759.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1346,
"aa_ref": "V",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5921,
"cdna_start": 1842,
"cds_end": null,
"cds_length": 4041,
"cds_start": 1537,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000675825.1",
"gene_hgnc_id": 5959,
"gene_symbol": "ELP1",
"hgvs_c": "c.1537G>A",
"hgvs_p": "p.Val513Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502632.1",
"strand": false,
"transcript": "ENST00000675825.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1343,
"aa_ref": "V",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5073,
"cdna_start": 1842,
"cds_end": null,
"cds_length": 4032,
"cds_start": 1537,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000675052.1",
"gene_hgnc_id": 5959,
"gene_symbol": "ELP1",
"hgvs_c": "c.1537G>A",
"hgvs_p": "p.Val513Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502664.1",
"strand": false,
"transcript": "ENST00000675052.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1332,
"aa_ref": "V",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5879,
"cdna_start": 1840,
"cds_end": null,
"cds_length": 3999,
"cds_start": 1537,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000675406.1",
"gene_hgnc_id": 5959,
"gene_symbol": "ELP1",
"hgvs_c": "c.1537G>A",
"hgvs_p": "p.Val513Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501893.1",
"strand": false,
"transcript": "ENST00000675406.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1332,
"aa_ref": "V",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4776,
"cdna_start": 1840,
"cds_end": null,
"cds_length": 3999,
"cds_start": 1537,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000861104.1",
"gene_hgnc_id": 5959,
"gene_symbol": "ELP1",
"hgvs_c": "c.1537G>A",
"hgvs_p": "p.Val513Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531163.1",
"strand": false,
"transcript": "ENST00000861104.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1332,
"aa_ref": "V",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4652,
"cdna_start": 1836,
"cds_end": null,
"cds_length": 3999,
"cds_start": 1537,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000933697.1",
"gene_hgnc_id": 5959,
"gene_symbol": "ELP1",
"hgvs_c": "c.1537G>A",
"hgvs_p": "p.Val513Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603756.1",
"strand": false,
"transcript": "ENST00000933697.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1314,
"aa_ref": "V",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5200,
"cdna_start": 1791,
"cds_end": null,
"cds_length": 3945,
"cds_start": 1483,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000933696.1",
"gene_hgnc_id": 5959,
"gene_symbol": "ELP1",
"hgvs_c": "c.1483G>A",
"hgvs_p": "p.Val495Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603755.1",
"strand": false,
"transcript": "ENST00000933696.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1313,
"aa_ref": "V",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5822,
"cdna_start": 1743,
"cds_end": null,
"cds_length": 3942,
"cds_start": 1438,
"consequences": [
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],
"exon_count": 36,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000676237.1",
"gene_hgnc_id": 5959,
"gene_symbol": "ELP1",
"hgvs_c": "c.1438G>A",
"hgvs_p": "p.Val480Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501828.1",
"strand": false,
"transcript": "ENST00000676237.1",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4793,
"cdna_start": 1842,
"cds_end": null,
"cds_length": 3909,
"cds_start": 1537,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000674535.1",
"gene_hgnc_id": 5959,
"gene_symbol": "ELP1",
"hgvs_c": "c.1537G>A",
"hgvs_p": "p.Val513Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502142.1",
"strand": false,
"transcript": "ENST00000674535.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1232,
"aa_ref": "V",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5606,
"cdna_start": 1527,
"cds_end": null,
"cds_length": 3699,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000676416.1",
"gene_hgnc_id": 5959,
"gene_symbol": "ELP1",
"hgvs_c": "c.1195G>A",
"hgvs_p": "p.Val399Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501660.1",
"strand": false,
"transcript": "ENST00000676416.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1218,
"aa_ref": "V",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5768,
"cdna_start": 1708,
"cds_end": null,
"cds_length": 3657,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001318360.2",
"gene_hgnc_id": 5959,
"gene_symbol": "ELP1",
"hgvs_c": "c.1195G>A",
"hgvs_p": "p.Val399Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001305289.1",
"strand": false,
"transcript": "NM_001318360.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1218,
"aa_ref": "V",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5685,
"cdna_start": 1646,
"cds_end": null,
"cds_length": 3657,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000674938.1",
"gene_hgnc_id": 5959,
"gene_symbol": "ELP1",
"hgvs_c": "c.1195G>A",
"hgvs_p": "p.Val399Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502427.1",
"strand": false,
"transcript": "ENST00000674938.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1218,
"aa_ref": "V",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5951,
"cdna_start": 1912,
"cds_end": null,
"cds_length": 3657,
"cds_start": 1195,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000674948.1",
"gene_hgnc_id": 5959,
"gene_symbol": "ELP1",
"hgvs_c": "c.1195G>A",
"hgvs_p": "p.Val399Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501602.1",
"strand": false,
"transcript": "ENST00000674948.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 983,
"aa_ref": "V",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5725,
"cdna_start": 1665,
"cds_end": null,
"cds_length": 2952,
"cds_start": 490,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001330749.2",
"gene_hgnc_id": 5959,
"gene_symbol": "ELP1",
"hgvs_c": "c.490G>A",
"hgvs_p": "p.Val164Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317678.1",
"strand": false,
"transcript": "NM_001330749.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 892,
"aa_ref": "V",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3098,
"cdna_start": 1853,
"cds_end": null,
"cds_length": 2679,
"cds_start": 1537,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_047423991.1",
"gene_hgnc_id": 5959,
"gene_symbol": "ELP1",
"hgvs_c": "c.1537G>A",
"hgvs_p": "p.Val513Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047279947.1",
"strand": false,
"transcript": "XM_047423991.1",
"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": 8661,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 34,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000674704.1",
"gene_hgnc_id": 5959,
"gene_symbol": "ELP1",
"hgvs_c": "n.3344G>A",
"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": "ENST00000674704.1",
"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": 6189,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 36,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000674836.1",
"gene_hgnc_id": 5959,
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