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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: 7-140800374-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=140800374&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 140800374,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000646891.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Ser323Leu",
"transcript": "NM_001374258.1",
"protein_id": "NP_001361187.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 807,
"cds_start": 968,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 9807,
"mane_select": null,
"mane_plus": "ENST00000644969.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Ser323Leu",
"transcript": "ENST00000644969.2",
"protein_id": "ENSP00000496776.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 807,
"cds_start": 968,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 9807,
"mane_select": null,
"mane_plus": "NM_001374258.1",
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Ser323Leu",
"transcript": "NM_004333.6",
"protein_id": "NP_004324.2",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 766,
"cds_start": 968,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 6459,
"mane_select": "ENST00000646891.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Ser323Leu",
"transcript": "ENST00000646891.2",
"protein_id": "ENSP00000493543.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 766,
"cds_start": 968,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 6459,
"mane_select": "NM_004333.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Ser323Leu",
"transcript": "ENST00000288602.11",
"protein_id": "ENSP00000288602.7",
"transcript_support_level": 1,
"aa_start": 323,
"aa_end": null,
"aa_length": 806,
"cds_start": 968,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Ser323Leu",
"transcript": "NM_001374244.1",
"protein_id": "NP_001361173.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 806,
"cds_start": 968,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 6579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Ser326Leu",
"transcript": "NM_001378467.1",
"protein_id": "NP_001365396.1",
"transcript_support_level": null,
"aa_start": 326,
"aa_end": null,
"aa_length": 770,
"cds_start": 977,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 9696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Ser323Leu",
"transcript": "NM_001354609.2",
"protein_id": "NP_001341538.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 767,
"cds_start": 968,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 9687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Ser323Leu",
"transcript": "ENST00000496384.7",
"protein_id": "ENSP00000419060.2",
"transcript_support_level": 5,
"aa_start": 323,
"aa_end": null,
"aa_length": 767,
"cds_start": 968,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 9578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Ser323Leu",
"transcript": "NM_001378468.1",
"protein_id": "NP_001365397.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 758,
"cds_start": 968,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 9533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Ser323Leu",
"transcript": "NM_001378469.1",
"protein_id": "NP_001365398.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 744,
"cds_start": 968,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 6393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.866C>T",
"hgvs_p": "p.Ser289Leu",
"transcript": "NM_001378470.1",
"protein_id": "NP_001365399.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 733,
"cds_start": 866,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1092,
"cdna_end": null,
"cdna_length": 9585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Ser323Leu",
"transcript": "NM_001378471.1",
"protein_id": "NP_001365400.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 730,
"cds_start": 968,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 9576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.812C>T",
"hgvs_p": "p.Ser271Leu",
"transcript": "NM_001378472.1",
"protein_id": "NP_001365401.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 715,
"cds_start": 812,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 9406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.812C>T",
"hgvs_p": "p.Ser271Leu",
"transcript": "NM_001378473.1",
"protein_id": "NP_001365402.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 714,
"cds_start": 812,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 913,
"cdna_end": null,
"cdna_length": 6178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Ser323Leu",
"transcript": "NM_001378474.1",
"protein_id": "NP_001365403.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 711,
"cds_start": 968,
"cds_end": null,
"cds_length": 2136,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 5062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.704C>T",
"hgvs_p": "p.Ser235Leu",
"transcript": "NM_001378475.1",
"protein_id": "NP_001365404.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 679,
"cds_start": 704,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 930,
"cdna_end": null,
"cdna_length": 9423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Ser323Leu",
"transcript": "XM_017012559.2",
"protein_id": "XP_016868048.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 798,
"cds_start": 968,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 9653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.812C>T",
"hgvs_p": "p.Ser271Leu",
"transcript": "XM_047420766.1",
"protein_id": "XP_047276722.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 755,
"cds_start": 812,
"cds_end": null,
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"cdna_start": 913,
"cdna_end": null,
"cdna_length": 9526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Ser323Leu",
"transcript": "XM_047420767.1",
"protein_id": "XP_047276723.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 714,
"cds_start": 968,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 2555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Ser323Leu",
"transcript": "XM_047420768.1",
"protein_id": "XP_047276724.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 633,
"cds_start": 968,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.968C>T",
"hgvs_p": "p.Ser323Leu",
"transcript": "XM_047420769.1",
"protein_id": "XP_047276725.1",
"transcript_support_level": null,
"aa_start": 323,
"aa_end": null,
"aa_length": 593,
"cds_start": 968,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1194,
"cdna_end": null,
"cdna_length": 2120,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Ser45Leu",
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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{
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"verdict": "Benign",
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],
"clinvar_disease": "BRAF-related disorder,Noonan syndrome and Noonan-related syndrome,RASopathy,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "US:1 LB:1 B:3",
"phenotype_combined": "not specified|RASopathy|not provided|Noonan syndrome and Noonan-related syndrome|BRAF-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}