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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: 14-99812518-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=99812518&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "EML1",
"hgnc_id": 3330,
"hgvs_c": "c.67+18975A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001008707.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.79,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7900000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 815,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4460,
"cdna_start": null,
"cds_end": null,
"cds_length": 2448,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004434.3",
"gene_hgnc_id": 3330,
"gene_symbol": "EML1",
"hgvs_c": "c.67+18975A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262233.11",
"protein_coding": true,
"protein_id": "NP_004425.2",
"strand": true,
"transcript": "NM_004434.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 815,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4460,
"cdna_start": null,
"cds_end": null,
"cds_length": 2448,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000262233.11",
"gene_hgnc_id": 3330,
"gene_symbol": "EML1",
"hgvs_c": "c.67+18975A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004434.3",
"protein_coding": true,
"protein_id": "ENSP00000262233.7",
"strand": true,
"transcript": "ENST00000262233.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 378,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1277,
"cdna_start": null,
"cds_end": null,
"cds_length": 1137,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554479.5",
"gene_hgnc_id": 3330,
"gene_symbol": "EML1",
"hgvs_c": "c.29-38335A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451346.1",
"strand": true,
"transcript": "ENST00000554479.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 873,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3876,
"cdna_start": null,
"cds_end": null,
"cds_length": 2622,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909081.1",
"gene_hgnc_id": 3330,
"gene_symbol": "EML1",
"hgvs_c": "c.67+18975A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579140.1",
"strand": true,
"transcript": "ENST00000909081.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 846,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3501,
"cdna_start": null,
"cds_end": null,
"cds_length": 2541,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940980.1",
"gene_hgnc_id": 3330,
"gene_symbol": "EML1",
"hgvs_c": "c.67+18975A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611039.1",
"strand": true,
"transcript": "ENST00000940980.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 840,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4804,
"cdna_start": null,
"cds_end": null,
"cds_length": 2523,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000649352.1",
"gene_hgnc_id": 3330,
"gene_symbol": "EML1",
"hgvs_c": "c.-125+19616A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498100.1",
"strand": true,
"transcript": "ENST00000649352.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 834,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4517,
"cdna_start": null,
"cds_end": null,
"cds_length": 2505,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001008707.2",
"gene_hgnc_id": 3330,
"gene_symbol": "EML1",
"hgvs_c": "c.67+18975A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001008707.1",
"strand": true,
"transcript": "NM_001008707.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 834,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4064,
"cdna_start": null,
"cds_end": null,
"cds_length": 2505,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000334192.8",
"gene_hgnc_id": 3330,
"gene_symbol": "EML1",
"hgvs_c": "c.67+18975A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000334314.4",
"strand": true,
"transcript": "ENST00000334192.8",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 824,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4531,
"cdna_start": null,
"cds_end": null,
"cds_length": 2475,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909078.1",
"gene_hgnc_id": 3330,
"gene_symbol": "EML1",
"hgvs_c": "c.67+18975A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579137.1",
"strand": true,
"transcript": "ENST00000909078.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 814,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4105,
"cdna_start": null,
"cds_end": null,
"cds_length": 2445,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000940979.1",
"gene_hgnc_id": 3330,
"gene_symbol": "EML1",
"hgvs_c": "c.67+18975A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611038.1",
"strand": true,
"transcript": "ENST00000940979.1",
"transcript_support_level": null
},
{
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"aa_length": 803,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2412,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000327921.13",
"gene_hgnc_id": 3330,
"gene_symbol": "EML1",
"hgvs_c": "c.-26-38335A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000327384.9",
"strand": true,
"transcript": "ENST00000327921.13",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2409,
"cds_start": null,
"consequences": [
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],
"exon_count": 22,
"exon_rank": null,
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"feature": "NM_001375411.1",
"gene_hgnc_id": 3330,
"gene_symbol": "EML1",
"hgvs_c": "c.29-38335A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001362340.1",
"strand": true,
"transcript": "NM_001375411.1",
"transcript_support_level": null
},
{
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],
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"feature": "ENST00000909079.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000579138.1",
"strand": true,
"transcript": "ENST00000909079.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001375412.1",
"gene_hgnc_id": 3330,
"gene_symbol": "EML1",
"hgvs_c": "c.67+18975A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001362341.1",
"strand": true,
"transcript": "NM_001375412.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 21,
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"feature": "ENST00000909082.1",
"gene_hgnc_id": 3330,
"gene_symbol": "EML1",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000579141.1",
"strand": true,
"transcript": "ENST00000909082.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440377.1",
"gene_hgnc_id": 3330,
"gene_symbol": "EML1",
"hgvs_c": "c.29-38335A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001427306.1",
"strand": true,
"transcript": "NM_001440377.1",
"transcript_support_level": null
},
{
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"cdna_end": null,
"cdna_length": 3767,
"cdna_start": null,
"cds_end": null,
"cds_length": 2265,
"cds_start": null,
"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909080.1",
"gene_hgnc_id": 3330,
"gene_symbol": "EML1",
"hgvs_c": "c.67+18975A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000579139.1",
"strand": true,
"transcript": "ENST00000909080.1",
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},
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"consequences": [
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],
"exon_count": 19,
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"feature": "ENST00000912116.1",
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"protein_id": "ENSP00000582175.1",
"strand": true,
"transcript": "ENST00000912116.1",
"transcript_support_level": null
},
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],
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"feature": "ENST00000556714.5",
"gene_hgnc_id": 3330,
"gene_symbol": "EML1",
"hgvs_c": "c.-27+19001A>G",
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"mane_plus": null,
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"protein_id": "ENSP00000452089.1",
"strand": true,
"transcript": "ENST00000556714.5",
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},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000555145.5",
"gene_hgnc_id": 3330,
"gene_symbol": "EML1",
"hgvs_c": "c.29-38335A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452160.1",
"strand": true,
"transcript": "ENST00000555145.5",
"transcript_support_level": 4
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 568,
"cdna_start": null,
"cds_end": null,
"cds_length": 323,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000556835.5",
"gene_hgnc_id": 3330,
"gene_symbol": "EML1",
"hgvs_c": "c.-27+19616A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451669.1",
"strand": true,
"transcript": "ENST00000556835.5",
"transcript_support_level": 4
},
{
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"biotype": "protein_coding",
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