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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: 18-47841843-CA-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=47841843&ref=CA&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "SMAD2",
"hgnc_id": 6768,
"hgvs_c": "c.1387delT",
"hgvs_p": "p.Cys463fs",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_005901.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"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": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": "C",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 34626,
"cdna_start": 1739,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1387,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_005901.6",
"gene_hgnc_id": 6768,
"gene_symbol": "SMAD2",
"hgvs_c": "c.1387delT",
"hgvs_p": "p.Cys463fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262160.11",
"protein_coding": true,
"protein_id": "NP_005892.1",
"strand": false,
"transcript": "NM_005901.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": "C",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 34626,
"cdna_start": 1739,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1387,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000262160.11",
"gene_hgnc_id": 6768,
"gene_symbol": "SMAD2",
"hgvs_c": "c.1387delT",
"hgvs_p": "p.Cys463fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005901.6",
"protein_coding": true,
"protein_id": "ENSP00000262160.6",
"strand": false,
"transcript": "ENST00000262160.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": "C",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12075,
"cdna_start": 1782,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1387,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000402690.6",
"gene_hgnc_id": 6768,
"gene_symbol": "SMAD2",
"hgvs_c": "c.1387delT",
"hgvs_p": "p.Cys463fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384449.1",
"strand": false,
"transcript": "ENST00000402690.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 437,
"aa_ref": "C",
"aa_start": 433,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10445,
"cdna_start": 1697,
"cds_end": null,
"cds_length": 1314,
"cds_start": 1297,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000356825.8",
"gene_hgnc_id": 6768,
"gene_symbol": "SMAD2",
"hgvs_c": "c.1297delT",
"hgvs_p": "p.Cys433fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349282.4",
"strand": false,
"transcript": "ENST00000356825.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 546,
"aa_ref": "C",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 1728,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1624,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000966650.1",
"gene_hgnc_id": 6768,
"gene_symbol": "SMAD2",
"hgvs_c": "c.1624delT",
"hgvs_p": "p.Cys542fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636709.1",
"strand": false,
"transcript": "ENST00000966650.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": "C",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 34400,
"cdna_start": 1513,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1387,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001003652.4",
"gene_hgnc_id": 6768,
"gene_symbol": "SMAD2",
"hgvs_c": "c.1387delT",
"hgvs_p": "p.Cys463fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001003652.1",
"strand": false,
"transcript": "NM_001003652.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": "C",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3469,
"cdna_start": 1876,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1387,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000878359.1",
"gene_hgnc_id": 6768,
"gene_symbol": "SMAD2",
"hgvs_c": "c.1387delT",
"hgvs_p": "p.Cys463fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548418.1",
"strand": false,
"transcript": "ENST00000878359.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": "C",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3552,
"cdna_start": 1959,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1387,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000878360.1",
"gene_hgnc_id": 6768,
"gene_symbol": "SMAD2",
"hgvs_c": "c.1387delT",
"hgvs_p": "p.Cys463fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548419.1",
"strand": false,
"transcript": "ENST00000878360.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": "C",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3497,
"cdna_start": 1904,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1387,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000878361.1",
"gene_hgnc_id": 6768,
"gene_symbol": "SMAD2",
"hgvs_c": "c.1387delT",
"hgvs_p": "p.Cys463fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548420.1",
"strand": false,
"transcript": "ENST00000878361.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": "C",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3533,
"cdna_start": 1947,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1387,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000878362.1",
"gene_hgnc_id": 6768,
"gene_symbol": "SMAD2",
"hgvs_c": "c.1387delT",
"hgvs_p": "p.Cys463fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548421.1",
"strand": false,
"transcript": "ENST00000878362.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": "C",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3429,
"cdna_start": 1840,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1387,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000878363.1",
"gene_hgnc_id": 6768,
"gene_symbol": "SMAD2",
"hgvs_c": "c.1387delT",
"hgvs_p": "p.Cys463fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548422.1",
"strand": false,
"transcript": "ENST00000878363.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": "C",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3163,
"cdna_start": 1577,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1387,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000878364.1",
"gene_hgnc_id": 6768,
"gene_symbol": "SMAD2",
"hgvs_c": "c.1387delT",
"hgvs_p": "p.Cys463fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548423.1",
"strand": false,
"transcript": "ENST00000878364.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": "C",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1952,
"cdna_start": 1503,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1387,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000878368.1",
"gene_hgnc_id": 6768,
"gene_symbol": "SMAD2",
"hgvs_c": "c.1387delT",
"hgvs_p": "p.Cys463fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548427.1",
"strand": false,
"transcript": "ENST00000878368.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": "C",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2261,
"cdna_start": 1651,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1387,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000878370.1",
"gene_hgnc_id": 6768,
"gene_symbol": "SMAD2",
"hgvs_c": "c.1387delT",
"hgvs_p": "p.Cys463fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548429.1",
"strand": false,
"transcript": "ENST00000878370.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": "C",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1741,
"cdna_start": 1563,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1387,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000878371.1",
"gene_hgnc_id": 6768,
"gene_symbol": "SMAD2",
"hgvs_c": "c.1387delT",
"hgvs_p": "p.Cys463fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548430.1",
"strand": false,
"transcript": "ENST00000878371.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": "C",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": 1646,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1387,
"consequences": [
"frameshift_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000936519.1",
"gene_hgnc_id": 6768,
"gene_symbol": "SMAD2",
"hgvs_c": "c.1387delT",
"hgvs_p": "p.Cys463fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606578.1",
"strand": false,
"transcript": "ENST00000936519.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": "C",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1941,
"cdna_start": 1692,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1387,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000936522.1",
"gene_hgnc_id": 6768,
"gene_symbol": "SMAD2",
"hgvs_c": "c.1387delT",
"hgvs_p": "p.Cys463fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606581.1",
"strand": false,
"transcript": "ENST00000936522.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": "C",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5259,
"cdna_start": 4655,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1387,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000936523.1",
"gene_hgnc_id": 6768,
"gene_symbol": "SMAD2",
"hgvs_c": "c.1387delT",
"hgvs_p": "p.Cys463fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606582.1",
"strand": false,
"transcript": "ENST00000936523.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": "C",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3065,
"cdna_start": 2448,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1387,
"consequences": [
"frameshift_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000966645.1",
"gene_hgnc_id": 6768,
"gene_symbol": "SMAD2",
"hgvs_c": "c.1387delT",
"hgvs_p": "p.Cys463fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636704.1",
"strand": false,
"transcript": "ENST00000966645.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": "C",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2325,
"cdna_start": 1721,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1387,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000966649.1",
"gene_hgnc_id": 6768,
"gene_symbol": "SMAD2",
"hgvs_c": "c.1387delT",
"hgvs_p": "p.Cys463fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636708.1",
"strand": false,
"transcript": "ENST00000966649.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 467,
"aa_ref": "C",
"aa_start": 463,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 1753,
"cds_end": null,
"cds_length": 1404,
"cds_start": 1387,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000966653.1",
"gene_hgnc_id": 6768,
"gene_symbol": "SMAD2",
"hgvs_c": "c.1387delT",
"hgvs_p": "p.Cys463fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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