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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: 17-57105703-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=57105703&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 57105703,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000337714.8",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Lys80Arg",
"transcript": "NM_003488.4",
"protein_id": "NP_003479.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 903,
"cds_start": 239,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": "ENST00000337714.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Lys80Arg",
"transcript": "ENST00000337714.8",
"protein_id": "ENSP00000337736.3",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 903,
"cds_start": 239,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 416,
"cdna_end": null,
"cdna_length": 3909,
"mane_select": "NM_003488.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Lys80Arg",
"transcript": "ENST00000314126.4",
"protein_id": "ENSP00000314075.3",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 593,
"cds_start": 239,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 301,
"cdna_end": null,
"cdna_length": 2380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Lys80Arg",
"transcript": "NM_001242902.2",
"protein_id": "NP_001229831.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 903,
"cds_start": 239,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 4032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Lys80Arg",
"transcript": "NM_001242903.2",
"protein_id": "NP_001229832.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 903,
"cds_start": 239,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 755,
"cdna_end": null,
"cdna_length": 4248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Lys80Arg",
"transcript": "NM_001370423.1",
"protein_id": "NP_001357352.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 903,
"cds_start": 239,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 3998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Lys80Arg",
"transcript": "NM_001370424.1",
"protein_id": "NP_001357353.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 903,
"cds_start": 239,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 340,
"cdna_end": null,
"cdna_length": 3833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Lys80Arg",
"transcript": "NM_001370425.1",
"protein_id": "NP_001357354.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 903,
"cds_start": 239,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 4092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Lys80Arg",
"transcript": "NM_001370426.1",
"protein_id": "NP_001357355.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 903,
"cds_start": 239,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 3927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Lys80Arg",
"transcript": "NM_001370427.1",
"protein_id": "NP_001357356.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 903,
"cds_start": 239,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 907,
"cdna_end": null,
"cdna_length": 4400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Lys80Arg",
"transcript": "ENST00000539273.5",
"protein_id": "ENSP00000443139.1",
"transcript_support_level": 2,
"aa_start": 80,
"aa_end": null,
"aa_length": 903,
"cds_start": 239,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 3153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Lys80Arg",
"transcript": "ENST00000571629.5",
"protein_id": "ENSP00000459968.1",
"transcript_support_level": 2,
"aa_start": 80,
"aa_end": null,
"aa_length": 903,
"cds_start": 239,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 3105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Lys80Arg",
"transcript": "ENST00000572557.5",
"protein_id": "ENSP00000459895.1",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 903,
"cds_start": 239,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 3098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Lys80Arg",
"transcript": "ENST00000621116.4",
"protein_id": "ENSP00000478212.1",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 903,
"cds_start": 239,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 794,
"cdna_end": null,
"cdna_length": 4285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Lys80Arg",
"transcript": "ENST00000575322.1",
"protein_id": "ENSP00000459808.1",
"transcript_support_level": 4,
"aa_start": 80,
"aa_end": null,
"aa_length": 185,
"cds_start": 239,
"cds_end": null,
"cds_length": 559,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Lys80Arg",
"transcript": "ENST00000572156.1",
"protein_id": "ENSP00000459521.1",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 181,
"cds_start": 239,
"cds_end": null,
"cds_length": 548,
"cdna_start": 401,
"cdna_end": null,
"cdna_length": 710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Lys80Arg",
"transcript": "ENST00000572814.1",
"protein_id": "ENSP00000458164.1",
"transcript_support_level": 4,
"aa_start": 80,
"aa_end": null,
"aa_length": 136,
"cds_start": 239,
"cds_end": null,
"cds_length": 412,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Lys80Arg",
"transcript": "ENST00000574683.1",
"protein_id": "ENSP00000460209.1",
"transcript_support_level": 2,
"aa_start": 80,
"aa_end": null,
"aa_length": 94,
"cds_start": 239,
"cds_end": null,
"cds_length": 285,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Lys80Arg",
"transcript": "ENST00000576591.1",
"protein_id": "ENSP00000460514.1",
"transcript_support_level": 4,
"aa_start": 80,
"aa_end": null,
"aa_length": 82,
"cds_start": 239,
"cds_end": null,
"cds_length": 249,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "n.239A>G",
"hgvs_p": null,
"transcript": "ENST00000481416.5",
"protein_id": "ENSP00000433212.1",
"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": 4089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.*98A>G",
"hgvs_p": null,
"transcript": "ENST00000573085.1",
"protein_id": "ENSP00000460557.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 46,
"cds_start": -4,
"cds_end": null,
"cds_length": 141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.*216A>G",
"hgvs_p": null,
"transcript": "ENST00000575186.5",
"protein_id": "ENSP00000461418.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 6,
"cds_start": -4,
"cds_end": null,
"cds_length": 23,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"hgvs_c": "c.*218A>G",
"hgvs_p": null,
"transcript": "ENST00000570423.5",
"protein_id": "ENSP00000458982.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 6,
"cds_start": -4,
"cds_end": null,
"cds_length": 21,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AKAP1",
"gene_hgnc_id": 367,
"dbsnp": "rs148312142",
"frequency_reference_population": 0.00006752755,
"hom_count_reference_population": 0,
"allele_count_reference_population": 109,
"gnomad_exomes_af": 0.0000690888,
"gnomad_genomes_af": 0.0000525383,
"gnomad_exomes_ac": 101,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.016479969024658203,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.014,
"revel_prediction": "Benign",
"alphamissense_score": 0.0905,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.625,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000337714.8",
"gene_symbol": "AKAP1",
"hgnc_id": 367,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.239A>G",
"hgvs_p": "p.Lys80Arg"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}