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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: 2-60945078-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=60945078&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 60945078,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_144709.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Phe494Phe",
"transcript": "NM_144709.4",
"protein_id": "NP_653310.2",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 529,
"cds_start": 1482,
"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": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Phe494Phe",
"transcript": "ENST00000316752.11",
"protein_id": "ENSP00000326003.6",
"transcript_support_level": 1,
"aa_start": 494,
"aa_end": null,
"aa_length": 529,
"cds_start": 1482,
"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": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "n.4085C>T",
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1506C>T",
"hgvs_p": "p.Phe502Phe",
"transcript": "ENST00000971235.1",
"protein_id": "ENSP00000641294.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 537,
"cds_start": 1506,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Phe494Phe",
"transcript": "NM_001322123.1",
"protein_id": "NP_001309052.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 529,
"cds_start": 1482,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Phe494Phe",
"transcript": "NM_001322124.1",
"protein_id": "NP_001309053.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 529,
"cds_start": 1482,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Phe494Phe",
"transcript": "ENST00000407787.6",
"protein_id": "ENSP00000386074.1",
"transcript_support_level": 2,
"aa_start": 494,
"aa_end": null,
"aa_length": 529,
"cds_start": 1482,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Phe494Phe",
"transcript": "ENST00000902119.1",
"protein_id": "ENSP00000572178.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 529,
"cds_start": 1482,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Phe494Phe",
"transcript": "ENST00000902123.1",
"protein_id": "ENSP00000572182.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 529,
"cds_start": 1482,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Phe494Phe",
"transcript": "ENST00000902124.1",
"protein_id": "ENSP00000572183.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 529,
"cds_start": 1482,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Phe494Phe",
"transcript": "ENST00000902125.1",
"protein_id": "ENSP00000572184.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 529,
"cds_start": 1482,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Phe494Phe",
"transcript": "ENST00000902126.1",
"protein_id": "ENSP00000572185.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 529,
"cds_start": 1482,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Phe494Phe",
"transcript": "ENST00000902127.1",
"protein_id": "ENSP00000572186.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 529,
"cds_start": 1482,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Phe494Phe",
"transcript": "ENST00000902128.1",
"protein_id": "ENSP00000572187.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 529,
"cds_start": 1482,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Phe494Phe",
"transcript": "ENST00000971231.1",
"protein_id": "ENSP00000641290.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 529,
"cds_start": 1482,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Phe494Phe",
"transcript": "ENST00000971232.1",
"protein_id": "ENSP00000641291.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 529,
"cds_start": 1482,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Phe494Phe",
"transcript": "ENST00000971233.1",
"protein_id": "ENSP00000641292.1",
"transcript_support_level": null,
"aa_start": 494,
"aa_end": null,
"aa_length": 529,
"cds_start": 1482,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1431C>T",
"hgvs_p": "p.Phe477Phe",
"transcript": "ENST00000902122.1",
"protein_id": "ENSP00000572181.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 512,
"cds_start": 1431,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902122.1"
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1308C>T",
"hgvs_p": "p.Phe436Phe",
"transcript": "ENST00000902121.1",
"protein_id": "ENSP00000572180.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 471,
"cds_start": 1308,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1227C>T",
"hgvs_p": "p.Phe409Phe",
"transcript": "ENST00000902120.1",
"protein_id": "ENSP00000572179.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 444,
"cds_start": 1227,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1227C>T",
"hgvs_p": "p.Phe409Phe",
"transcript": "ENST00000902129.1",
"protein_id": "ENSP00000572188.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 444,
"cds_start": 1227,
"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": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUS10",
"gene_hgnc_id": 26505,
"hgvs_c": "c.1227C>T",
"hgvs_p": "p.Phe409Phe",
"transcript": "ENST00000971234.1",
"protein_id": "ENSP00000641293.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 444,
"cds_start": 1227,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.535,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 3,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_144709.4",
"gene_symbol": "PUS10",
"hgnc_id": 26505,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1482C>T",
"hgvs_p": "p.Phe494Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}