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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: 2-215361621-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=215361621&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 215361621,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_212482.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7368T>G",
"hgvs_p": "p.Val2456Val",
"transcript": "NM_212482.4",
"protein_id": "NP_997647.2",
"transcript_support_level": null,
"aa_start": 2456,
"aa_end": null,
"aa_length": 2477,
"cds_start": 7368,
"cds_end": null,
"cds_length": 7434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354785.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_212482.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7368T>G",
"hgvs_p": "p.Val2456Val",
"transcript": "ENST00000354785.11",
"protein_id": "ENSP00000346839.4",
"transcript_support_level": 1,
"aa_start": 2456,
"aa_end": null,
"aa_length": 2477,
"cds_start": 7368,
"cds_end": null,
"cds_length": 7434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_212482.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354785.11"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7275T>G",
"hgvs_p": "p.Val2425Val",
"transcript": "ENST00000323926.10",
"protein_id": "ENSP00000323534.6",
"transcript_support_level": 1,
"aa_start": 2425,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7275,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000323926.10"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7002T>G",
"hgvs_p": "p.Val2334Val",
"transcript": "ENST00000336916.8",
"protein_id": "ENSP00000338200.4",
"transcript_support_level": 1,
"aa_start": 2334,
"aa_end": null,
"aa_length": 2355,
"cds_start": 7002,
"cds_end": null,
"cds_length": 7068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336916.8"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.6927T>G",
"hgvs_p": "p.Val2309Val",
"transcript": "ENST00000446046.5",
"protein_id": "ENSP00000410422.1",
"transcript_support_level": 1,
"aa_start": 2309,
"aa_end": null,
"aa_length": 2330,
"cds_start": 6927,
"cds_end": null,
"cds_length": 6993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446046.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.6825T>G",
"hgvs_p": "p.Val2275Val",
"transcript": "ENST00000356005.8",
"protein_id": "ENSP00000348285.4",
"transcript_support_level": 1,
"aa_start": 2275,
"aa_end": null,
"aa_length": 2296,
"cds_start": 6825,
"cds_end": null,
"cds_length": 6891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356005.8"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.6738T>G",
"hgvs_p": "p.Val2246Val",
"transcript": "ENST00000432072.6",
"protein_id": "ENSP00000399538.2",
"transcript_support_level": 1,
"aa_start": 2246,
"aa_end": null,
"aa_length": 2267,
"cds_start": 6738,
"cds_end": null,
"cds_length": 6804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432072.6"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.6732T>G",
"hgvs_p": "p.Val2244Val",
"transcript": "ENST00000443816.5",
"protein_id": "ENSP00000415018.1",
"transcript_support_level": 1,
"aa_start": 2244,
"aa_end": null,
"aa_length": 2265,
"cds_start": 6732,
"cds_end": null,
"cds_length": 6798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443816.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.6657T>G",
"hgvs_p": "p.Val2219Val",
"transcript": "ENST00000421182.5",
"protein_id": "ENSP00000394423.1",
"transcript_support_level": 1,
"aa_start": 2219,
"aa_end": null,
"aa_length": 2240,
"cds_start": 6657,
"cds_end": null,
"cds_length": 6723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421182.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.6465T>G",
"hgvs_p": "p.Val2155Val",
"transcript": "ENST00000357867.8",
"protein_id": "ENSP00000350534.4",
"transcript_support_level": 1,
"aa_start": 2155,
"aa_end": null,
"aa_length": 2176,
"cds_start": 6465,
"cds_end": null,
"cds_length": 6531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357867.8"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7362T>G",
"hgvs_p": "p.Val2454Val",
"transcript": "ENST00000933287.1",
"protein_id": "ENSP00000603346.1",
"transcript_support_level": null,
"aa_start": 2454,
"aa_end": null,
"aa_length": 2475,
"cds_start": 7362,
"cds_end": null,
"cds_length": 7428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933287.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7275T>G",
"hgvs_p": "p.Val2425Val",
"transcript": "NM_001306129.2",
"protein_id": "NP_001293058.2",
"transcript_support_level": null,
"aa_start": 2425,
"aa_end": null,
"aa_length": 2446,
"cds_start": 7275,
"cds_end": null,
"cds_length": 7341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306129.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7098T>G",
"hgvs_p": "p.Val2366Val",
"transcript": "NM_001365517.2",
"protein_id": "NP_001352446.1",
"transcript_support_level": null,
"aa_start": 2366,
"aa_end": null,
"aa_length": 2387,
"cds_start": 7098,
"cds_end": null,
"cds_length": 7164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365517.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7095T>G",
"hgvs_p": "p.Val2365Val",
"transcript": "NM_001365518.2",
"protein_id": "NP_001352447.1",
"transcript_support_level": null,
"aa_start": 2365,
"aa_end": null,
"aa_length": 2386,
"cds_start": 7095,
"cds_end": null,
"cds_length": 7161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365518.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7095T>G",
"hgvs_p": "p.Val2365Val",
"transcript": "ENST00000359671.5",
"protein_id": "ENSP00000352696.1",
"transcript_support_level": 5,
"aa_start": 2365,
"aa_end": null,
"aa_length": 2386,
"cds_start": 7095,
"cds_end": null,
"cds_length": 7161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359671.5"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7089T>G",
"hgvs_p": "p.Val2363Val",
"transcript": "ENST00000967218.1",
"protein_id": "ENSP00000637277.1",
"transcript_support_level": null,
"aa_start": 2363,
"aa_end": null,
"aa_length": 2384,
"cds_start": 7089,
"cds_end": null,
"cds_length": 7155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967218.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7023T>G",
"hgvs_p": "p.Val2341Val",
"transcript": "NM_001365519.2",
"protein_id": "NP_001352448.1",
"transcript_support_level": null,
"aa_start": 2341,
"aa_end": null,
"aa_length": 2362,
"cds_start": 7023,
"cds_end": null,
"cds_length": 7089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365519.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7020T>G",
"hgvs_p": "p.Val2340Val",
"transcript": "NM_001365520.2",
"protein_id": "NP_001352449.1",
"transcript_support_level": null,
"aa_start": 2340,
"aa_end": null,
"aa_length": 2361,
"cds_start": 7020,
"cds_end": null,
"cds_length": 7086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365520.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7008T>G",
"hgvs_p": "p.Val2336Val",
"transcript": "ENST00000865085.1",
"protein_id": "ENSP00000535144.1",
"transcript_support_level": null,
"aa_start": 2336,
"aa_end": null,
"aa_length": 2357,
"cds_start": 7008,
"cds_end": null,
"cds_length": 7074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865085.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7005T>G",
"hgvs_p": "p.Val2335Val",
"transcript": "NM_001365521.2",
"protein_id": "NP_001352450.1",
"transcript_support_level": null,
"aa_start": 2335,
"aa_end": null,
"aa_length": 2356,
"cds_start": 7005,
"cds_end": null,
"cds_length": 7071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365521.2"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7002T>G",
"hgvs_p": "p.Val2334Val",
"transcript": "NM_002026.4",
"protein_id": "NP_002017.2",
"transcript_support_level": null,
"aa_start": 2334,
"aa_end": null,
"aa_length": 2355,
"cds_start": 7002,
"cds_end": null,
"cds_length": 7068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002026.4"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"hgvs_c": "c.7002T>G",
"hgvs_p": "p.Val2334Val",
"transcript": "ENST00000865089.1",
"protein_id": "ENSP00000535148.1",
"transcript_support_level": null,
"aa_start": 2334,
"aa_end": null,
"aa_length": 2355,
"cds_start": 7002,
"cds_end": null,
"cds_length": 7068,
"cdna_start": null,
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}
],
"gene_symbol": "FN1",
"gene_hgnc_id": 3778,
"dbsnp": "rs574336108",
"frequency_reference_population": 0.000089413894,
"hom_count_reference_population": 1,
"allele_count_reference_population": 144,
"gnomad_exomes_af": 0.000096008,
"gnomad_genomes_af": 0.0000262681,
"gnomad_exomes_ac": 140,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6600000262260437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.871,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_212482.4",
"gene_symbol": "FN1",
"hgnc_id": 3778,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7368T>G",
"hgvs_p": "p.Val2456Val"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "XR_007075418.1",
"gene_symbol": "ATIC",
"hgnc_id": 794,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.1872-1025A>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}