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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: 7-140781602-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=140781602&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BRAF",
"hgnc_id": 1097,
"hgvs_c": "c.1526G>T",
"hgvs_p": "p.Gly509Val",
"inheritance_mode": "AD",
"pathogenic_score": 13,
"score": 13,
"transcript": "NM_001374258.1",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000289788",
"hgnc_id": null,
"hgvs_c": "n.502+6734C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 8,
"score": 8,
"transcript": "ENST00000700122.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Moderate",
"acmg_score": 13,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9999,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.45,
"chr": "7",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Non-small cell lung carcinoma",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.989444375038147,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 807,
"aa_ref": "G",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9807,
"cdna_start": 1752,
"cds_end": null,
"cds_length": 2424,
"cds_start": 1526,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001374258.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1526G>T",
"hgvs_p": "p.Gly509Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000644969.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361187.1",
"strand": false,
"transcript": "NM_001374258.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 807,
"aa_ref": "G",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9807,
"cdna_start": 1752,
"cds_end": null,
"cds_length": 2424,
"cds_start": 1526,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000644969.2",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1526G>T",
"hgvs_p": "p.Gly509Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001374258.1",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496776.1",
"strand": false,
"transcript": "ENST00000644969.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 766,
"aa_ref": "G",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6459,
"cdna_start": 1632,
"cds_end": null,
"cds_length": 2301,
"cds_start": 1406,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_004333.6",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1406G>T",
"hgvs_p": "p.Gly469Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000646891.2",
"protein_coding": true,
"protein_id": "NP_004324.2",
"strand": false,
"transcript": "NM_004333.6",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 766,
"aa_ref": "G",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6459,
"cdna_start": 1632,
"cds_end": null,
"cds_length": 2301,
"cds_start": 1406,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000646891.2",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1406G>T",
"hgvs_p": "p.Gly469Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004333.6",
"protein_coding": true,
"protein_id": "ENSP00000493543.1",
"strand": false,
"transcript": "ENST00000646891.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 806,
"aa_ref": "G",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 1555,
"cds_end": null,
"cds_length": 2421,
"cds_start": 1526,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000288602.11",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1526G>T",
"hgvs_p": "p.Gly509Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000288602.7",
"strand": false,
"transcript": "ENST00000288602.11",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 809,
"aa_ref": "G",
"aa_start": 512,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2552,
"cdna_start": 1545,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1535,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000944245.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1535G>T",
"hgvs_p": "p.Gly512Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614304.1",
"strand": false,
"transcript": "ENST00000944245.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 806,
"aa_ref": "G",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6579,
"cdna_start": 1752,
"cds_end": null,
"cds_length": 2421,
"cds_start": 1526,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001374244.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1526G>T",
"hgvs_p": "p.Gly509Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361173.1",
"strand": false,
"transcript": "NM_001374244.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 770,
"aa_ref": "G",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9696,
"cdna_start": 1641,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1415,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001378467.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1415G>T",
"hgvs_p": "p.Gly472Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365396.1",
"strand": false,
"transcript": "NM_001378467.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 769,
"aa_ref": "G",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3168,
"cdna_start": 1688,
"cds_end": null,
"cds_length": 2310,
"cds_start": 1415,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000912600.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1415G>T",
"hgvs_p": "p.Gly472Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582659.1",
"strand": false,
"transcript": "ENST00000912600.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 767,
"aa_ref": "G",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9687,
"cdna_start": 1632,
"cds_end": null,
"cds_length": 2304,
"cds_start": 1406,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001354609.2",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1406G>T",
"hgvs_p": "p.Gly469Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341538.1",
"strand": false,
"transcript": "NM_001354609.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 767,
"aa_ref": "G",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9578,
"cdna_start": 1513,
"cds_end": null,
"cds_length": 2304,
"cds_start": 1406,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000496384.7",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1406G>T",
"hgvs_p": "p.Gly469Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419060.2",
"strand": false,
"transcript": "ENST00000496384.7",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 758,
"aa_ref": "G",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9533,
"cdna_start": 1632,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1406,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001378468.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1406G>T",
"hgvs_p": "p.Gly469Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365397.1",
"strand": false,
"transcript": "NM_001378468.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 744,
"aa_ref": "G",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6393,
"cdna_start": 1566,
"cds_end": null,
"cds_length": 2235,
"cds_start": 1340,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001378469.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1340G>T",
"hgvs_p": "p.Gly447Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365398.1",
"strand": false,
"transcript": "NM_001378469.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 744,
"aa_ref": "G",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 2235,
"cds_start": 1340,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000912601.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1340G>T",
"hgvs_p": "p.Gly447Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582660.1",
"strand": false,
"transcript": "ENST00000912601.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 733,
"aa_ref": "G",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9585,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 2202,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001378470.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1304G>T",
"hgvs_p": "p.Gly435Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365399.1",
"strand": false,
"transcript": "NM_001378470.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 732,
"aa_ref": "G",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2550,
"cdna_start": 1548,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000867091.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1304G>T",
"hgvs_p": "p.Gly435Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537150.1",
"strand": false,
"transcript": "ENST00000867091.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 730,
"aa_ref": "G",
"aa_start": 432,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9576,
"cdna_start": 1521,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1295,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001378471.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1295G>T",
"hgvs_p": "p.Gly432Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365400.1",
"strand": false,
"transcript": "NM_001378471.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 715,
"aa_ref": "G",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9406,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 2148,
"cds_start": 1250,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001378472.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1250G>T",
"hgvs_p": "p.Gly417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365401.1",
"strand": false,
"transcript": "NM_001378472.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 714,
"aa_ref": "G",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6178,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 2145,
"cds_start": 1250,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001378473.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1250G>T",
"hgvs_p": "p.Gly417Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365402.1",
"strand": false,
"transcript": "NM_001378473.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "G",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5062,
"cdna_start": 1632,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1406,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001378474.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1406G>T",
"hgvs_p": "p.Gly469Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365403.1",
"strand": false,
"transcript": "NM_001378474.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 679,
"aa_ref": "G",
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