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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: 3-170084817-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=170084817&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 170084817,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014373.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR160",
"gene_hgnc_id": 23693,
"hgvs_c": "c.845T>A",
"hgvs_p": "p.Phe282Tyr",
"transcript": "NM_014373.3",
"protein_id": "NP_055188.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000355897.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014373.3"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR160",
"gene_hgnc_id": 23693,
"hgvs_c": "c.845T>A",
"hgvs_p": "p.Phe282Tyr",
"transcript": "ENST00000355897.10",
"protein_id": "ENSP00000348161.5",
"transcript_support_level": 1,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014373.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355897.10"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR160",
"gene_hgnc_id": 23693,
"hgvs_c": "c.845T>A",
"hgvs_p": "p.Phe282Tyr",
"transcript": "ENST00000900470.1",
"protein_id": "ENSP00000570529.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900470.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR160",
"gene_hgnc_id": 23693,
"hgvs_c": "c.845T>A",
"hgvs_p": "p.Phe282Tyr",
"transcript": "ENST00000900471.1",
"protein_id": "ENSP00000570530.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900471.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR160",
"gene_hgnc_id": 23693,
"hgvs_c": "c.845T>A",
"hgvs_p": "p.Phe282Tyr",
"transcript": "ENST00000900472.1",
"protein_id": "ENSP00000570531.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900472.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR160",
"gene_hgnc_id": 23693,
"hgvs_c": "c.845T>A",
"hgvs_p": "p.Phe282Tyr",
"transcript": "ENST00000900473.1",
"protein_id": "ENSP00000570532.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900473.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR160",
"gene_hgnc_id": 23693,
"hgvs_c": "c.845T>A",
"hgvs_p": "p.Phe282Tyr",
"transcript": "ENST00000900474.1",
"protein_id": "ENSP00000570533.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900474.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR160",
"gene_hgnc_id": 23693,
"hgvs_c": "c.845T>A",
"hgvs_p": "p.Phe282Tyr",
"transcript": "ENST00000900475.1",
"protein_id": "ENSP00000570534.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900475.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "GPR160",
"gene_hgnc_id": 23693,
"hgvs_c": "c.845T>A",
"hgvs_p": "p.Phe282Tyr",
"transcript": "ENST00000900476.1",
"protein_id": "ENSP00000570535.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900476.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR160",
"gene_hgnc_id": 23693,
"hgvs_c": "c.845T>A",
"hgvs_p": "p.Phe282Tyr",
"transcript": "ENST00000900477.1",
"protein_id": "ENSP00000570536.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900477.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR160",
"gene_hgnc_id": 23693,
"hgvs_c": "c.845T>A",
"hgvs_p": "p.Phe282Tyr",
"transcript": "ENST00000900478.1",
"protein_id": "ENSP00000570537.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900478.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR160",
"gene_hgnc_id": 23693,
"hgvs_c": "c.845T>A",
"hgvs_p": "p.Phe282Tyr",
"transcript": "ENST00000900479.1",
"protein_id": "ENSP00000570538.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900479.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR160",
"gene_hgnc_id": 23693,
"hgvs_c": "c.845T>A",
"hgvs_p": "p.Phe282Tyr",
"transcript": "ENST00000900480.1",
"protein_id": "ENSP00000570539.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900480.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR160",
"gene_hgnc_id": 23693,
"hgvs_c": "c.845T>A",
"hgvs_p": "p.Phe282Tyr",
"transcript": "ENST00000900481.1",
"protein_id": "ENSP00000570540.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900481.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR160",
"gene_hgnc_id": 23693,
"hgvs_c": "c.845T>A",
"hgvs_p": "p.Phe282Tyr",
"transcript": "ENST00000900482.1",
"protein_id": "ENSP00000570541.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900482.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "GPR160",
"gene_hgnc_id": 23693,
"hgvs_c": "c.845T>A",
"hgvs_p": "p.Phe282Tyr",
"transcript": "ENST00000900483.1",
"protein_id": "ENSP00000570542.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900483.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"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": "GPR160",
"gene_hgnc_id": 23693,
"hgvs_c": "c.845T>A",
"hgvs_p": "p.Phe282Tyr",
"transcript": "ENST00000914748.1",
"protein_id": "ENSP00000584807.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914748.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR160",
"gene_hgnc_id": 23693,
"hgvs_c": "c.845T>A",
"hgvs_p": "p.Phe282Tyr",
"transcript": "ENST00000914749.1",
"protein_id": "ENSP00000584808.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914749.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR160",
"gene_hgnc_id": 23693,
"hgvs_c": "c.845T>A",
"hgvs_p": "p.Phe282Tyr",
"transcript": "ENST00000914750.1",
"protein_id": "ENSP00000584809.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914750.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR160",
"gene_hgnc_id": 23693,
"hgvs_c": "c.845T>A",
"hgvs_p": "p.Phe282Tyr",
"transcript": "ENST00000914751.1",
"protein_id": "ENSP00000584810.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914751.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR160",
"gene_hgnc_id": 23693,
"hgvs_c": "c.845T>A",
"hgvs_p": "p.Phe282Tyr",
"transcript": "ENST00000914752.1",
"protein_id": "ENSP00000584811.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914752.1"
},
{
"aa_ref": "F",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPR160",
"gene_hgnc_id": 23693,
"hgvs_c": "c.845T>A",
"hgvs_p": "p.Phe282Tyr",
"transcript": "ENST00000914753.1",
"protein_id": "ENSP00000584812.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 845,
"cds_end": null,
"cds_length": 1017,
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],
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7435240149497986,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.351,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5123,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.831,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_014373.3",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}