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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: 2-60948083-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=60948083&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 60948083,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_144709.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Glu471Gln",
"transcript": "NM_144709.4",
"protein_id": "NP_653310.2",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 529,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000316752.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144709.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Glu471Gln",
"transcript": "ENST00000316752.11",
"protein_id": "ENSP00000326003.6",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 529,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144709.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000316752.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "n.4014G>C",
"hgvs_p": null,
"transcript": "ENST00000602599.1",
"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": "retained_intron",
"feature": "ENST00000602599.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1435G>C",
"hgvs_p": "p.Glu479Gln",
"transcript": "ENST00000971235.1",
"protein_id": "ENSP00000641294.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 537,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971235.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Glu471Gln",
"transcript": "NM_001322123.1",
"protein_id": "NP_001309052.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 529,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322123.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Glu471Gln",
"transcript": "NM_001322124.1",
"protein_id": "NP_001309053.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 529,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322124.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Glu471Gln",
"transcript": "ENST00000407787.6",
"protein_id": "ENSP00000386074.1",
"transcript_support_level": 2,
"aa_start": 471,
"aa_end": null,
"aa_length": 529,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407787.6"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Glu471Gln",
"transcript": "ENST00000902119.1",
"protein_id": "ENSP00000572178.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 529,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902119.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Glu471Gln",
"transcript": "ENST00000902123.1",
"protein_id": "ENSP00000572182.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 529,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902123.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Glu471Gln",
"transcript": "ENST00000902124.1",
"protein_id": "ENSP00000572183.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 529,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902124.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Glu471Gln",
"transcript": "ENST00000902125.1",
"protein_id": "ENSP00000572184.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 529,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902125.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Glu471Gln",
"transcript": "ENST00000902126.1",
"protein_id": "ENSP00000572185.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 529,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902126.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Glu471Gln",
"transcript": "ENST00000902127.1",
"protein_id": "ENSP00000572186.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 529,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902127.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Glu471Gln",
"transcript": "ENST00000902128.1",
"protein_id": "ENSP00000572187.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 529,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902128.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Glu471Gln",
"transcript": "ENST00000971231.1",
"protein_id": "ENSP00000641290.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 529,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971231.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Glu471Gln",
"transcript": "ENST00000971232.1",
"protein_id": "ENSP00000641291.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 529,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971232.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Glu471Gln",
"transcript": "ENST00000971233.1",
"protein_id": "ENSP00000641292.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 529,
"cds_start": 1411,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971233.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1237G>C",
"hgvs_p": "p.Glu413Gln",
"transcript": "ENST00000902121.1",
"protein_id": "ENSP00000572180.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 471,
"cds_start": 1237,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902121.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Glu386Gln",
"transcript": "ENST00000902120.1",
"protein_id": "ENSP00000572179.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 444,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902120.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Glu386Gln",
"transcript": "ENST00000902129.1",
"protein_id": "ENSP00000572188.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 444,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902129.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Glu386Gln",
"transcript": "ENST00000971234.1",
"protein_id": "ENSP00000641293.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 444,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971234.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1156G>C",
"hgvs_p": "p.Glu386Gln",
"transcript": "ENST00000971236.1",
"protein_id": "ENSP00000641295.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 444,
"cds_start": 1156,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0895,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.722,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.11,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_144709.4",
"gene_symbol": "PUS10",
"hgnc_id": 26505,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1411G>C",
"hgvs_p": "p.Glu471Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}