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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-101657276-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=101657276&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 101657276,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014782.7",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX2",
"gene_hgnc_id": 16869,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "NM_177949.4",
"protein_id": "NP_808818.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 632,
"cds_start": 313,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356824.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177949.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX2",
"gene_hgnc_id": 16869,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "ENST00000356824.9",
"protein_id": "ENSP00000349281.4",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 632,
"cds_start": 313,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_177949.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356824.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX2",
"gene_hgnc_id": 16869,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "ENST00000328766.9",
"protein_id": "ENSP00000331662.5",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 632,
"cds_start": 313,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328766.9"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX2",
"gene_hgnc_id": 16869,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "ENST00000330154.6",
"protein_id": "ENSP00000328631.2",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 632,
"cds_start": 313,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330154.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX2",
"gene_hgnc_id": 16869,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "NM_001282231.2",
"protein_id": "NP_001269160.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 632,
"cds_start": 313,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282231.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX2",
"gene_hgnc_id": 16869,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "NM_014782.7",
"protein_id": "NP_055597.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 632,
"cds_start": 313,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014782.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX2",
"gene_hgnc_id": 16869,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "ENST00000889669.1",
"protein_id": "ENSP00000559728.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 632,
"cds_start": 313,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889669.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX2",
"gene_hgnc_id": 16869,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "ENST00000889670.1",
"protein_id": "ENSP00000559729.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 632,
"cds_start": 313,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889670.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX2",
"gene_hgnc_id": 16869,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "ENST00000889671.1",
"protein_id": "ENSP00000559730.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 632,
"cds_start": 313,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889671.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX2",
"gene_hgnc_id": 16869,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "ENST00000889672.1",
"protein_id": "ENSP00000559731.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 632,
"cds_start": 313,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889672.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX2",
"gene_hgnc_id": 16869,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "ENST00000889673.1",
"protein_id": "ENSP00000559732.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 632,
"cds_start": 313,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889673.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX2",
"gene_hgnc_id": 16869,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "ENST00000889674.1",
"protein_id": "ENSP00000559733.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 632,
"cds_start": 313,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889674.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX2",
"gene_hgnc_id": 16869,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "ENST00000889675.1",
"protein_id": "ENSP00000559734.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 632,
"cds_start": 313,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889675.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX2",
"gene_hgnc_id": 16869,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "ENST00000889676.1",
"protein_id": "ENSP00000559735.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 632,
"cds_start": 313,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889676.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX2",
"gene_hgnc_id": 16869,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "ENST00000889677.1",
"protein_id": "ENSP00000559736.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 632,
"cds_start": 313,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889677.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX2",
"gene_hgnc_id": 16869,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "ENST00000889678.1",
"protein_id": "ENSP00000559737.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 632,
"cds_start": 313,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889678.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX2",
"gene_hgnc_id": 16869,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "ENST00000889679.1",
"protein_id": "ENSP00000559738.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 632,
"cds_start": 313,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889679.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX2",
"gene_hgnc_id": 16869,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "ENST00000889680.1",
"protein_id": "ENSP00000559739.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 632,
"cds_start": 313,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889680.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX2",
"gene_hgnc_id": 16869,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "ENST00000889681.1",
"protein_id": "ENSP00000559740.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 632,
"cds_start": 313,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889681.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX2",
"gene_hgnc_id": 16869,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "ENST00000889682.1",
"protein_id": "ENSP00000559741.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 632,
"cds_start": 313,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889682.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX2",
"gene_hgnc_id": 16869,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "ENST00000889683.1",
"protein_id": "ENSP00000559742.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 632,
"cds_start": 313,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889683.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARMCX2",
"gene_hgnc_id": 16869,
"hgvs_c": "c.313G>A",
"hgvs_p": "p.Ala105Thr",
"transcript": "ENST00000889684.1",
"protein_id": "ENSP00000559743.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 632,
"cds_start": 313,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.76,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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],
"verdict": "Likely_benign",
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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
}