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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: X-101625338-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=101625338&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 101625338,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_016607.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"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": "ARMCX3",
"gene_hgnc_id": 24065,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "NM_177947.3",
"protein_id": "NP_808816.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 379,
"cds_start": 359,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000471229.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177947.3"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"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": "ARMCX3",
"gene_hgnc_id": 24065,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "ENST00000471229.7",
"protein_id": "ENSP00000454483.1",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 379,
"cds_start": 359,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_177947.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471229.7"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "ARMCX3",
"gene_hgnc_id": 24065,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "ENST00000341189.8",
"protein_id": "ENSP00000340672.4",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 379,
"cds_start": 359,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341189.8"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "ARMCX3",
"gene_hgnc_id": 24065,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "ENST00000537169.1",
"protein_id": "ENSP00000439032.1",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 379,
"cds_start": 359,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537169.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "ARMCX3",
"gene_hgnc_id": 24065,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "NM_016607.4",
"protein_id": "NP_057691.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 379,
"cds_start": 359,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016607.4"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "ARMCX3",
"gene_hgnc_id": 24065,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "NM_177948.3",
"protein_id": "NP_808817.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 379,
"cds_start": 359,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177948.3"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "ARMCX3",
"gene_hgnc_id": 24065,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "ENST00000892644.1",
"protein_id": "ENSP00000562703.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 379,
"cds_start": 359,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892644.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "ARMCX3",
"gene_hgnc_id": 24065,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "ENST00000892645.1",
"protein_id": "ENSP00000562704.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 379,
"cds_start": 359,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892645.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "ARMCX3",
"gene_hgnc_id": 24065,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "ENST00000892646.1",
"protein_id": "ENSP00000562705.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 379,
"cds_start": 359,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892646.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "ARMCX3",
"gene_hgnc_id": 24065,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "ENST00000892647.1",
"protein_id": "ENSP00000562706.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 379,
"cds_start": 359,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892647.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "ARMCX3",
"gene_hgnc_id": 24065,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "ENST00000892648.1",
"protein_id": "ENSP00000562707.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 379,
"cds_start": 359,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892648.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "ARMCX3",
"gene_hgnc_id": 24065,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "ENST00000892649.1",
"protein_id": "ENSP00000562708.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 379,
"cds_start": 359,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892649.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "ARMCX3",
"gene_hgnc_id": 24065,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "ENST00000892650.1",
"protein_id": "ENSP00000562709.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 379,
"cds_start": 359,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892650.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "ARMCX3",
"gene_hgnc_id": 24065,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "ENST00000892651.1",
"protein_id": "ENSP00000562710.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 379,
"cds_start": 359,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892651.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "ARMCX3",
"gene_hgnc_id": 24065,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "ENST00000892652.1",
"protein_id": "ENSP00000562711.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 379,
"cds_start": 359,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892652.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "ARMCX3",
"gene_hgnc_id": 24065,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "ENST00000892653.1",
"protein_id": "ENSP00000562712.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 379,
"cds_start": 359,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892653.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "ARMCX3",
"gene_hgnc_id": 24065,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "ENST00000892654.1",
"protein_id": "ENSP00000562713.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 379,
"cds_start": 359,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892654.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "ARMCX3",
"gene_hgnc_id": 24065,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "ENST00000892655.1",
"protein_id": "ENSP00000562714.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 379,
"cds_start": 359,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892655.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "ARMCX3",
"gene_hgnc_id": 24065,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "ENST00000892656.1",
"protein_id": "ENSP00000562715.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 379,
"cds_start": 359,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892656.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "ARMCX3",
"gene_hgnc_id": 24065,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "ENST00000892657.1",
"protein_id": "ENSP00000562716.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 379,
"cds_start": 359,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892657.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX3",
"gene_hgnc_id": 24065,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "ENST00000892658.1",
"protein_id": "ENSP00000562717.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 379,
"cds_start": 359,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892658.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"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": "ARMCX3",
"gene_hgnc_id": 24065,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Pro120His",
"transcript": "ENST00000939728.1",
"protein_id": "ENSP00000609787.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 379,
"cds_start": 359,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939728.1"
},
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{
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{
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],
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"hom_count_reference_population": 2,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6619759202003479,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.199,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.327,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_016607.4",
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"effects": [
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"inheritance_mode": "",
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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
}