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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: 1-111147997-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=111147997&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 111147997,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006090.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEPT1",
"gene_hgnc_id": 24289,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val",
"transcript": "NM_006090.5",
"protein_id": "NP_006081.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 416,
"cds_start": 283,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357172.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006090.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEPT1",
"gene_hgnc_id": 24289,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val",
"transcript": "ENST00000357172.9",
"protein_id": "ENSP00000349696.4",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 416,
"cds_start": 283,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006090.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357172.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEPT1",
"gene_hgnc_id": 24289,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val",
"transcript": "ENST00000545121.5",
"protein_id": "ENSP00000441980.1",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 416,
"cds_start": 283,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545121.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEPT1",
"gene_hgnc_id": 24289,
"hgvs_c": "n.491A>G",
"hgvs_p": null,
"transcript": "ENST00000498239.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000498239.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEPT1",
"gene_hgnc_id": 24289,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val",
"transcript": "NM_001007794.3",
"protein_id": "NP_001007795.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 416,
"cds_start": 283,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007794.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEPT1",
"gene_hgnc_id": 24289,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val",
"transcript": "NM_001330743.2",
"protein_id": "NP_001317672.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 416,
"cds_start": 283,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330743.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEPT1",
"gene_hgnc_id": 24289,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val",
"transcript": "NM_001410844.1",
"protein_id": "NP_001397773.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 416,
"cds_start": 283,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410844.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEPT1",
"gene_hgnc_id": 24289,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val",
"transcript": "ENST00000700750.1",
"protein_id": "ENSP00000515162.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 416,
"cds_start": 283,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700750.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEPT1",
"gene_hgnc_id": 24289,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val",
"transcript": "ENST00000874823.1",
"protein_id": "ENSP00000544882.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 416,
"cds_start": 283,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874823.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEPT1",
"gene_hgnc_id": 24289,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val",
"transcript": "ENST00000874824.1",
"protein_id": "ENSP00000544883.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 416,
"cds_start": 283,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874824.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEPT1",
"gene_hgnc_id": 24289,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val",
"transcript": "ENST00000874827.1",
"protein_id": "ENSP00000544886.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 416,
"cds_start": 283,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874827.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEPT1",
"gene_hgnc_id": 24289,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val",
"transcript": "ENST00000874828.1",
"protein_id": "ENSP00000544887.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 416,
"cds_start": 283,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874828.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEPT1",
"gene_hgnc_id": 24289,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val",
"transcript": "ENST00000874829.1",
"protein_id": "ENSP00000544888.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 416,
"cds_start": 283,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874829.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEPT1",
"gene_hgnc_id": 24289,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val",
"transcript": "ENST00000874830.1",
"protein_id": "ENSP00000544889.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 416,
"cds_start": 283,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874830.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEPT1",
"gene_hgnc_id": 24289,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val",
"transcript": "ENST00000938971.1",
"protein_id": "ENSP00000609030.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 416,
"cds_start": 283,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938971.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEPT1",
"gene_hgnc_id": 24289,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val",
"transcript": "ENST00000942340.1",
"protein_id": "ENSP00000612399.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 416,
"cds_start": 283,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942340.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEPT1",
"gene_hgnc_id": 24289,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val",
"transcript": "ENST00000942341.1",
"protein_id": "ENSP00000612400.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 416,
"cds_start": 283,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942341.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEPT1",
"gene_hgnc_id": 24289,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val",
"transcript": "ENST00000942342.1",
"protein_id": "ENSP00000612401.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 416,
"cds_start": 283,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942342.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"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": "CEPT1",
"gene_hgnc_id": 24289,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val",
"transcript": "ENST00000874826.1",
"protein_id": "ENSP00000544885.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 307,
"cds_start": 283,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874826.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEPT1",
"gene_hgnc_id": 24289,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val",
"transcript": "ENST00000874825.1",
"protein_id": "ENSP00000544884.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 291,
"cds_start": 283,
"cds_end": null,
"cds_length": 876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874825.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEPT1",
"gene_hgnc_id": 24289,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val",
"transcript": "XM_011540496.3",
"protein_id": "XP_011538798.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 416,
"cds_start": 283,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011540496.3"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEPT1",
"gene_hgnc_id": 24289,
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val",
"transcript": "XM_047429909.1",
"protein_id": "XP_047285865.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 239,
"cds_start": 283,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429909.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
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"hom_count_reference_population": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17215454578399658,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.11,
"revel_prediction": "Benign",
"alphamissense_score": 0.0621,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.735,
"phylop100way_prediction": "Pathogenic",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006090.5",
"gene_symbol": "CEPT1",
"hgnc_id": 24289,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.283A>G",
"hgvs_p": "p.Ile95Val"
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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
}