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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: 7-140734702-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=140734702&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 140734702,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000646891.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.2316C>G",
"hgvs_p": "p.Ser772Ser",
"transcript": "NM_001374258.1",
"protein_id": "NP_001361187.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 807,
"cds_start": 2316,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2542,
"cdna_end": null,
"cdna_length": 9807,
"mane_select": null,
"mane_plus": "ENST00000644969.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.2316C>G",
"hgvs_p": "p.Ser772Ser",
"transcript": "ENST00000644969.2",
"protein_id": "ENSP00000496776.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 807,
"cds_start": 2316,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 2542,
"cdna_end": null,
"cdna_length": 9807,
"mane_select": null,
"mane_plus": "NM_001374258.1",
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.2196C>G",
"hgvs_p": "p.Ser732Ser",
"transcript": "NM_004333.6",
"protein_id": "NP_004324.2",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 766,
"cds_start": 2196,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2422,
"cdna_end": null,
"cdna_length": 6459,
"mane_select": "ENST00000646891.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.2196C>G",
"hgvs_p": "p.Ser732Ser",
"transcript": "ENST00000646891.2",
"protein_id": "ENSP00000493543.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 766,
"cds_start": 2196,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 2422,
"cdna_end": null,
"cdna_length": 6459,
"mane_select": "NM_004333.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.2316C>G",
"hgvs_p": "p.Ser772Ser",
"transcript": "ENST00000288602.11",
"protein_id": "ENSP00000288602.7",
"transcript_support_level": 1,
"aa_start": 772,
"aa_end": null,
"aa_length": 806,
"cds_start": 2316,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2345,
"cdna_end": null,
"cdna_length": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.2316C>G",
"hgvs_p": "p.Ser772Ser",
"transcript": "NM_001374244.1",
"protein_id": "NP_001361173.1",
"transcript_support_level": null,
"aa_start": 772,
"aa_end": null,
"aa_length": 806,
"cds_start": 2316,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 2542,
"cdna_end": null,
"cdna_length": 6579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.2205C>G",
"hgvs_p": "p.Ser735Ser",
"transcript": "NM_001378467.1",
"protein_id": "NP_001365396.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 770,
"cds_start": 2205,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2431,
"cdna_end": null,
"cdna_length": 9696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.2196C>G",
"hgvs_p": "p.Ser732Ser",
"transcript": "NM_001354609.2",
"protein_id": "NP_001341538.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 767,
"cds_start": 2196,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 2422,
"cdna_end": null,
"cdna_length": 9687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.2196C>G",
"hgvs_p": "p.Ser732Ser",
"transcript": "ENST00000496384.7",
"protein_id": "ENSP00000419060.2",
"transcript_support_level": 5,
"aa_start": 732,
"aa_end": null,
"aa_length": 767,
"cds_start": 2196,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 2303,
"cdna_end": null,
"cdna_length": 9578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.2130C>G",
"hgvs_p": "p.Ser710Ser",
"transcript": "NM_001378469.1",
"protein_id": "NP_001365398.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 744,
"cds_start": 2130,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 2356,
"cdna_end": null,
"cdna_length": 6393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.2094C>G",
"hgvs_p": "p.Ser698Ser",
"transcript": "NM_001378470.1",
"protein_id": "NP_001365399.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 733,
"cds_start": 2094,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 2320,
"cdna_end": null,
"cdna_length": 9585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.2085C>G",
"hgvs_p": "p.Ser695Ser",
"transcript": "NM_001378471.1",
"protein_id": "NP_001365400.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 730,
"cds_start": 2085,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 2311,
"cdna_end": null,
"cdna_length": 9576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.2040C>G",
"hgvs_p": "p.Ser680Ser",
"transcript": "NM_001378472.1",
"protein_id": "NP_001365401.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 715,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 9406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.2040C>G",
"hgvs_p": "p.Ser680Ser",
"transcript": "NM_001378473.1",
"protein_id": "NP_001365402.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 714,
"cds_start": 2040,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 2141,
"cdna_end": null,
"cdna_length": 6178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1932C>G",
"hgvs_p": "p.Ser644Ser",
"transcript": "NM_001378475.1",
"protein_id": "NP_001365404.1",
"transcript_support_level": null,
"aa_start": 644,
"aa_end": null,
"aa_length": 679,
"cds_start": 1932,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 2158,
"cdna_end": null,
"cdna_length": 9423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.2160C>G",
"hgvs_p": "p.Ser720Ser",
"transcript": "XM_047420766.1",
"protein_id": "XP_047276722.1",
"transcript_support_level": null,
"aa_start": 720,
"aa_end": null,
"aa_length": 755,
"cds_start": 2160,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 2261,
"cdna_end": null,
"cdna_length": 9526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.1482C>G",
"hgvs_p": "p.Ser494Ser",
"transcript": "XM_047420770.1",
"protein_id": "XP_047276726.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 529,
"cds_start": 1482,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1880,
"cdna_end": null,
"cdna_length": 9145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "n.*253C>G",
"hgvs_p": null,
"transcript": "ENST00000479537.6",
"protein_id": "ENSP00000418033.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "n.*1646C>G",
"hgvs_p": null,
"transcript": "ENST00000497784.2",
"protein_id": "ENSP00000420119.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "n.*1274C>G",
"hgvs_p": null,
"transcript": "ENST00000642228.1",
"protein_id": "ENSP00000493678.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "n.1594C>G",
"hgvs_p": null,
"transcript": "ENST00000642875.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "n.*260C>G",
"hgvs_p": null,
"transcript": "ENST00000644650.1",
"protein_id": "ENSP00000493783.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "n.3078C>G",
"hgvs_p": null,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
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"pathogenic_score": 0,
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"verdict": "Benign",
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:5",
"phenotype_combined": "not provided|not specified|LEOPARD syndrome 3|Noonan syndrome 7|Cardiovascular phenotype|RASopathy|BRAF-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}