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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: 7-140801537-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=140801537&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 140801537,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000646891.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.735A>C",
"hgvs_p": "p.Leu245Phe",
"transcript": "NM_001374258.1",
"protein_id": "NP_001361187.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 807,
"cds_start": 735,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 9807,
"mane_select": null,
"mane_plus": "ENST00000644969.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.735A>C",
"hgvs_p": "p.Leu245Phe",
"transcript": "ENST00000644969.2",
"protein_id": "ENSP00000496776.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 807,
"cds_start": 735,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 9807,
"mane_select": null,
"mane_plus": "NM_001374258.1",
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"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.735A>C",
"hgvs_p": "p.Leu245Phe",
"transcript": "NM_004333.6",
"protein_id": "NP_004324.2",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 766,
"cds_start": 735,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 6459,
"mane_select": "ENST00000646891.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"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.735A>C",
"hgvs_p": "p.Leu245Phe",
"transcript": "ENST00000646891.2",
"protein_id": "ENSP00000493543.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 766,
"cds_start": 735,
"cds_end": null,
"cds_length": 2301,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 6459,
"mane_select": "NM_004333.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.735A>C",
"hgvs_p": "p.Leu245Phe",
"transcript": "ENST00000288602.11",
"protein_id": "ENSP00000288602.7",
"transcript_support_level": 1,
"aa_start": 245,
"aa_end": null,
"aa_length": 806,
"cds_start": 735,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.735A>C",
"hgvs_p": "p.Leu245Phe",
"transcript": "NM_001374244.1",
"protein_id": "NP_001361173.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 806,
"cds_start": 735,
"cds_end": null,
"cds_length": 2421,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 6579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.744A>C",
"hgvs_p": "p.Leu248Phe",
"transcript": "NM_001378467.1",
"protein_id": "NP_001365396.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 770,
"cds_start": 744,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 9696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.735A>C",
"hgvs_p": "p.Leu245Phe",
"transcript": "NM_001354609.2",
"protein_id": "NP_001341538.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 767,
"cds_start": 735,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 9687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.735A>C",
"hgvs_p": "p.Leu245Phe",
"transcript": "ENST00000496384.7",
"protein_id": "ENSP00000419060.2",
"transcript_support_level": 5,
"aa_start": 245,
"aa_end": null,
"aa_length": 767,
"cds_start": 735,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 842,
"cdna_end": null,
"cdna_length": 9578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"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.735A>C",
"hgvs_p": "p.Leu245Phe",
"transcript": "NM_001378468.1",
"protein_id": "NP_001365397.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 758,
"cds_start": 735,
"cds_end": null,
"cds_length": 2277,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 9533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"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.735A>C",
"hgvs_p": "p.Leu245Phe",
"transcript": "NM_001378469.1",
"protein_id": "NP_001365398.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 744,
"cds_start": 735,
"cds_end": null,
"cds_length": 2235,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 6393,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"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.633A>C",
"hgvs_p": "p.Leu211Phe",
"transcript": "NM_001378470.1",
"protein_id": "NP_001365399.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 733,
"cds_start": 633,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 9585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"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.735A>C",
"hgvs_p": "p.Leu245Phe",
"transcript": "NM_001378471.1",
"protein_id": "NP_001365400.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 730,
"cds_start": 735,
"cds_end": null,
"cds_length": 2193,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 9576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.579A>C",
"hgvs_p": "p.Leu193Phe",
"transcript": "NM_001378472.1",
"protein_id": "NP_001365401.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 715,
"cds_start": 579,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 9406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"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.579A>C",
"hgvs_p": "p.Leu193Phe",
"transcript": "NM_001378473.1",
"protein_id": "NP_001365402.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 714,
"cds_start": 579,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 6178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"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.735A>C",
"hgvs_p": "p.Leu245Phe",
"transcript": "NM_001378474.1",
"protein_id": "NP_001365403.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 711,
"cds_start": 735,
"cds_end": null,
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"cdna_start": 961,
"cdna_end": null,
"cdna_length": 5062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"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.471A>C",
"hgvs_p": "p.Leu157Phe",
"transcript": "NM_001378475.1",
"protein_id": "NP_001365404.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 679,
"cds_start": 471,
"cds_end": null,
"cds_length": 2040,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 9423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.735A>C",
"hgvs_p": "p.Leu245Phe",
"transcript": "XM_017012559.2",
"protein_id": "XP_016868048.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 798,
"cds_start": 735,
"cds_end": null,
"cds_length": 2397,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 9653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.579A>C",
"hgvs_p": "p.Leu193Phe",
"transcript": "XM_047420766.1",
"protein_id": "XP_047276722.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 755,
"cds_start": 579,
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"cdna_start": 680,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.735A>C",
"hgvs_p": "p.Leu245Phe",
"transcript": "XM_047420767.1",
"protein_id": "XP_047276723.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 714,
"cds_start": 735,
"cds_end": null,
"cds_length": 2145,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 2555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.735A>C",
"hgvs_p": "p.Leu245Phe",
"transcript": "XM_047420768.1",
"protein_id": "XP_047276724.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 633,
"cds_start": 735,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
"gene_hgnc_id": 1097,
"hgvs_c": "c.735A>C",
"hgvs_p": "p.Leu245Phe",
"transcript": "XM_047420769.1",
"protein_id": "XP_047276725.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 593,
"cds_start": 735,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 2120,
"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": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BRAF",
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}
],
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"dbsnp": "rs397507466",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.9173902869224548,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.834,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9939,
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"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.384,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PP3,PP2,PM1,PS2,PM2,PS4_Supporting",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
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"PP2",
"PM1",
"PS2",
"PM2",
"PS4_Supporting"
],
"verdict": "Pathogenic",
"transcript": "ENST00000646891.2",
"gene_symbol": "BRAF",
"hgnc_id": 1097,
"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.735A>C",
"hgvs_p": "p.Leu245Phe"
}
],
"clinvar_disease": "Cardio-facio-cutaneous syndrome,Cardiofaciocutaneous syndrome 1,LEOPARD syndrome 3,Lung carcinoma,Noonan syndrome 1,Noonan syndrome 7,Noonan syndrome and Noonan-related syndrome,RASopathy,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:4 LP:2",
"phenotype_combined": "not provided|Cardio-facio-cutaneous syndrome|RASopathy|LEOPARD syndrome 3|Cardiofaciocutaneous syndrome 1;Noonan syndrome 1;Lung carcinoma;LEOPARD syndrome 3;Noonan syndrome 7|Noonan syndrome and Noonan-related syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}