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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: 17-39653708-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39653708&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 39653708,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_006804.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu",
"transcript": "NM_006804.4",
"protein_id": "NP_006795.3",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 445,
"cds_start": 177,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336308.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006804.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu",
"transcript": "ENST00000336308.10",
"protein_id": "ENSP00000337446.5",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 445,
"cds_start": 177,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006804.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336308.10"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu",
"transcript": "ENST00000580611.5",
"protein_id": "ENSP00000463613.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 475,
"cds_start": 177,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580611.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu",
"transcript": "ENST00000936728.1",
"protein_id": "ENSP00000606787.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 462,
"cds_start": 177,
"cds_end": null,
"cds_length": 1389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936728.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu",
"transcript": "ENST00000964921.1",
"protein_id": "ENSP00000634980.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 454,
"cds_start": 177,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964921.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu",
"transcript": "ENST00000908875.1",
"protein_id": "ENSP00000578934.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 452,
"cds_start": 177,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908875.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu",
"transcript": "ENST00000908889.1",
"protein_id": "ENSP00000578948.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 452,
"cds_start": 177,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908889.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu",
"transcript": "NM_001165937.2",
"protein_id": "NP_001159409.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 445,
"cds_start": 177,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001165937.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu",
"transcript": "ENST00000544210.6",
"protein_id": "ENSP00000439869.2",
"transcript_support_level": 2,
"aa_start": 59,
"aa_end": null,
"aa_length": 445,
"cds_start": 177,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544210.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu",
"transcript": "ENST00000908879.1",
"protein_id": "ENSP00000578938.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 445,
"cds_start": 177,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908879.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu",
"transcript": "ENST00000908880.1",
"protein_id": "ENSP00000578939.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 445,
"cds_start": 177,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908880.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu",
"transcript": "ENST00000908881.1",
"protein_id": "ENSP00000578940.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 445,
"cds_start": 177,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908881.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu",
"transcript": "ENST00000908884.1",
"protein_id": "ENSP00000578943.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 445,
"cds_start": 177,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908884.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu",
"transcript": "ENST00000908885.1",
"protein_id": "ENSP00000578944.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 445,
"cds_start": 177,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908885.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu",
"transcript": "ENST00000908886.1",
"protein_id": "ENSP00000578945.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 445,
"cds_start": 177,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908886.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu",
"transcript": "ENST00000908891.1",
"protein_id": "ENSP00000578950.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 445,
"cds_start": 177,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908891.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu",
"transcript": "ENST00000936730.1",
"protein_id": "ENSP00000606789.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 445,
"cds_start": 177,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936730.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu",
"transcript": "ENST00000936732.1",
"protein_id": "ENSP00000606791.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 445,
"cds_start": 177,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936732.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu",
"transcript": "ENST00000964919.1",
"protein_id": "ENSP00000634978.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 445,
"cds_start": 177,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964919.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu",
"transcript": "ENST00000964920.1",
"protein_id": "ENSP00000634979.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 445,
"cds_start": 177,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964920.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu",
"transcript": "ENST00000964922.1",
"protein_id": "ENSP00000634981.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 445,
"cds_start": 177,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964922.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STARD3",
"gene_hgnc_id": 17579,
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu",
"transcript": "ENST00000936731.1",
"protein_id": "ENSP00000606790.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 444,
"cds_start": 177,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"gene_hgnc_id": 17579,
"dbsnp": "rs150342077",
"frequency_reference_population": 6.840666e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84067e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9546538591384888,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1899999976158142,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.631,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.999,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": -0.07,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.19,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_006804.4",
"gene_symbol": "STARD3",
"hgnc_id": 17579,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.177C>A",
"hgvs_p": "p.Phe59Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}