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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: 6-123218612-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=123218612&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate"
],
"effects": [
"stop_gained"
],
"gene_symbol": "TRDN",
"hgnc_id": 12261,
"hgvs_c": "c.2179C>T",
"hgvs_p": "p.Gln727*",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_006073.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate",
"acmg_score": 2,
"allele_count_reference_population": 78,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.36,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Cardiovascular phenotype,Catecholaminergic polymorphic ventricular tachycardia 1,Catecholaminergic polymorphic ventricular tachycardia 5,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.36000001430511475,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 729,
"aa_ref": "Q",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4627,
"cdna_start": 2354,
"cds_end": null,
"cds_length": 2190,
"cds_start": 2179,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "NM_006073.4",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.2179C>T",
"hgvs_p": "p.Gln727*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000334268.9",
"protein_coding": true,
"protein_id": "NP_006064.2",
"strand": false,
"transcript": "NM_006073.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 729,
"aa_ref": "Q",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4627,
"cdna_start": 2354,
"cds_end": null,
"cds_length": 2190,
"cds_start": 2179,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000334268.9",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.2179C>T",
"hgvs_p": "p.Gln727*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006073.4",
"protein_coding": true,
"protein_id": "ENSP00000333984.5",
"strand": false,
"transcript": "ENST00000334268.9",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 730,
"aa_ref": "Q",
"aa_start": 728,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4683,
"cdna_start": 2412,
"cds_end": null,
"cds_length": 2193,
"cds_start": 2182,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000962661.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.2182C>T",
"hgvs_p": "p.Gln728*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632720.1",
"strand": false,
"transcript": "ENST00000962661.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 729,
"aa_ref": "Q",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4889,
"cdna_start": 2429,
"cds_end": null,
"cds_length": 2190,
"cds_start": 2179,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000962654.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.2179C>T",
"hgvs_p": "p.Gln727*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632713.1",
"strand": false,
"transcript": "ENST00000962654.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 729,
"aa_ref": "Q",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4713,
"cdna_start": 2443,
"cds_end": null,
"cds_length": 2190,
"cds_start": 2179,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000962655.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.2179C>T",
"hgvs_p": "p.Gln727*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632714.1",
"strand": false,
"transcript": "ENST00000962655.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 729,
"aa_ref": "Q",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4680,
"cdna_start": 2409,
"cds_end": null,
"cds_length": 2190,
"cds_start": 2179,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000962660.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.2179C>T",
"hgvs_p": "p.Gln727*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632719.1",
"strand": false,
"transcript": "ENST00000962660.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 729,
"aa_ref": "Q",
"aa_start": 727,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4676,
"cdna_start": 2406,
"cds_end": null,
"cds_length": 2190,
"cds_start": 2179,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000962662.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.2179C>T",
"hgvs_p": "p.Gln727*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632721.1",
"strand": false,
"transcript": "ENST00000962662.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 728,
"aa_ref": "Q",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4978,
"cdna_start": 2661,
"cds_end": null,
"cds_length": 2187,
"cds_start": 2176,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000962653.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Gln726*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632712.1",
"strand": false,
"transcript": "ENST00000962653.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 728,
"aa_ref": "Q",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4705,
"cdna_start": 2434,
"cds_end": null,
"cds_length": 2187,
"cds_start": 2176,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000962656.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Gln726*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632715.1",
"strand": false,
"transcript": "ENST00000962656.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 728,
"aa_ref": "Q",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4661,
"cdna_start": 2390,
"cds_end": null,
"cds_length": 2187,
"cds_start": 2176,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000962663.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Gln726*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632722.1",
"strand": false,
"transcript": "ENST00000962663.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 728,
"aa_ref": "Q",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4660,
"cdna_start": 2389,
"cds_end": null,
"cds_length": 2187,
"cds_start": 2176,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000962664.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.2176C>T",
"hgvs_p": "p.Gln726*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632723.1",
"strand": false,
"transcript": "ENST00000962664.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 727,
"aa_ref": "Q",
"aa_start": 725,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4675,
"cdna_start": 2404,
"cds_end": null,
"cds_length": 2184,
"cds_start": 2173,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000962659.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.2173C>T",
"hgvs_p": "p.Gln725*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632718.1",
"strand": false,
"transcript": "ENST00000962659.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 727,
"aa_ref": "Q",
"aa_start": 725,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3679,
"cdna_start": 2436,
"cds_end": null,
"cds_length": 2184,
"cds_start": 2173,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000962682.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.2173C>T",
"hgvs_p": "p.Gln725*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632741.1",
"strand": false,
"transcript": "ENST00000962682.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 726,
"aa_ref": "Q",
"aa_start": 724,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4569,
"cdna_start": 2366,
"cds_end": null,
"cds_length": 2181,
"cds_start": 2170,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000962678.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.2170C>T",
"hgvs_p": "p.Gln724*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632737.1",
"strand": false,
"transcript": "ENST00000962678.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 725,
"aa_ref": "Q",
"aa_start": 723,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4602,
"cdna_start": 2397,
"cds_end": null,
"cds_length": 2178,
"cds_start": 2167,
"consequences": [
"stop_gained"
],
"exon_count": 41,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "ENST00000962674.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.2167C>T",
"hgvs_p": "p.Gln723*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632733.1",
"strand": false,
"transcript": "ENST00000962674.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 719,
"aa_ref": "Q",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4678,
"cdna_start": 2408,
"cds_end": null,
"cds_length": 2160,
"cds_start": 2149,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000962657.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.2149C>T",
"hgvs_p": "p.Gln717*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632716.1",
"strand": false,
"transcript": "ENST00000962657.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 719,
"aa_ref": "Q",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4616,
"cdna_start": 2345,
"cds_end": null,
"cds_length": 2160,
"cds_start": 2149,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000962666.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.2149C>T",
"hgvs_p": "p.Gln717*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632725.1",
"strand": false,
"transcript": "ENST00000962666.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 719,
"aa_ref": "Q",
"aa_start": 717,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4602,
"cdna_start": 2332,
"cds_end": null,
"cds_length": 2160,
"cds_start": 2149,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000962671.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.2149C>T",
"hgvs_p": "p.Gln717*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632730.1",
"strand": false,
"transcript": "ENST00000962671.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 718,
"aa_ref": "Q",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4594,
"cdna_start": 2323,
"cds_end": null,
"cds_length": 2157,
"cds_start": 2146,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000962673.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.2146C>T",
"hgvs_p": "p.Gln716*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632732.1",
"strand": false,
"transcript": "ENST00000962673.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 718,
"aa_ref": "Q",
"aa_start": 716,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4562,
"cdna_start": 2359,
"cds_end": null,
"cds_length": 2157,
"cds_start": 2146,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000962676.1",
"gene_hgnc_id": 12261,
"gene_symbol": "TRDN",
"hgvs_c": "c.2146C>T",
"hgvs_p": "p.Gln716*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632735.1",
"strand": false,
"transcript": "ENST00000962676.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 717,
"aa_ref": "Q",
"aa_start": 715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5880,
"cdna_start": 2356,
"cds_end": null,
"cds_length": 2154,
"cds_start": 2143,
"consequences": [
"stop_gained"
],
"exon_count": 40,
"exon_rank": 40,
"exon_rank_end": null,
"feature": "ENST00000962652.1",
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