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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: 13-26215440-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=26215440&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 26215440,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_005977.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg",
"transcript": "NM_005977.4",
"protein_id": "NP_005968.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 685,
"cds_start": 442,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 3520,
"mane_select": "ENST00000381588.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005977.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg",
"transcript": "ENST00000381588.9",
"protein_id": "ENSP00000371000.4",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 685,
"cds_start": 442,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 855,
"cdna_end": null,
"cdna_length": 3520,
"mane_select": "NM_005977.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381588.9"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg",
"transcript": "ENST00000346166.7",
"protein_id": "ENSP00000342121.3",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 685,
"cds_start": 442,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 3282,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346166.7"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg",
"transcript": "ENST00000381570.7",
"protein_id": "ENSP00000370982.3",
"transcript_support_level": 1,
"aa_start": 148,
"aa_end": null,
"aa_length": 685,
"cds_start": 442,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381570.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "n.768+34C>A",
"hgvs_p": null,
"transcript": "ENST00000468480.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1105,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000468480.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg",
"transcript": "NM_183043.3",
"protein_id": "NP_898864.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 685,
"cds_start": 442,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 3741,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183043.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg",
"transcript": "NM_183044.3",
"protein_id": "NP_898865.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 685,
"cds_start": 442,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 872,
"cdna_end": null,
"cdna_length": 3537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183044.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg",
"transcript": "ENST00000902197.1",
"protein_id": "ENSP00000572256.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 685,
"cds_start": 442,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 997,
"cdna_end": null,
"cdna_length": 3672,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902197.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg",
"transcript": "ENST00000902198.1",
"protein_id": "ENSP00000572257.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 685,
"cds_start": 442,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1027,
"cdna_end": null,
"cdna_length": 3711,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902198.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg",
"transcript": "ENST00000902201.1",
"protein_id": "ENSP00000572260.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 685,
"cds_start": 442,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 3411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902201.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg",
"transcript": "ENST00000902204.1",
"protein_id": "ENSP00000572263.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 685,
"cds_start": 442,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902204.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg",
"transcript": "ENST00000902205.1",
"protein_id": "ENSP00000572264.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 685,
"cds_start": 442,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 596,
"cdna_end": null,
"cdna_length": 3270,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902205.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg",
"transcript": "ENST00000902206.1",
"protein_id": "ENSP00000572265.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 685,
"cds_start": 442,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1057,
"cdna_end": null,
"cdna_length": 3737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902206.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg",
"transcript": "ENST00000911857.1",
"protein_id": "ENSP00000581916.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 685,
"cds_start": 442,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 694,
"cdna_end": null,
"cdna_length": 3359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911857.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg",
"transcript": "ENST00000911859.1",
"protein_id": "ENSP00000581918.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 685,
"cds_start": 442,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 2467,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911859.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg",
"transcript": "ENST00000945715.1",
"protein_id": "ENSP00000615774.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 685,
"cds_start": 442,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 3666,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945715.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg",
"transcript": "ENST00000945716.1",
"protein_id": "ENSP00000615775.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 685,
"cds_start": 442,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 1528,
"cdna_end": null,
"cdna_length": 4190,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945716.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg",
"transcript": "ENST00000945717.1",
"protein_id": "ENSP00000615776.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 685,
"cds_start": 442,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 951,
"cdna_end": null,
"cdna_length": 3613,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945717.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg",
"transcript": "ENST00000945718.1",
"protein_id": "ENSP00000615777.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 685,
"cds_start": 442,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 3366,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945718.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg",
"transcript": "ENST00000945721.1",
"protein_id": "ENSP00000615780.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 685,
"cds_start": 442,
"cds_end": null,
"cds_length": 2058,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 3446,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945721.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.439C>A",
"hgvs_p": "p.Arg147Arg",
"transcript": "ENST00000902199.1",
"protein_id": "ENSP00000572258.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 684,
"cds_start": 439,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 851,
"cdna_end": null,
"cdna_length": 3516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902199.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF6",
"gene_hgnc_id": 10069,
"hgvs_c": "c.439C>A",
"hgvs_p": "p.Arg147Arg",
"transcript": "ENST00000902203.1",
"protein_id": "ENSP00000572262.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 684,
"cds_start": 439,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 566,
"cdna_end": null,
"cdna_length": 3231,
"mane_select": null,
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"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342029,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.47999998927116394,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.20000000298023224,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.211,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.2,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_005977.4",
"gene_symbol": "RNF6",
"hgnc_id": 10069,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.442C>A",
"hgvs_p": "p.Arg148Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}