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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: 16-70258156-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=70258156&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 70258156,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001605.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2054T>C",
"hgvs_p": "p.Val685Ala",
"transcript": "NM_001605.3",
"protein_id": "NP_001596.2",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 968,
"cds_start": 2054,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261772.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001605.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2054T>C",
"hgvs_p": "p.Val685Ala",
"transcript": "ENST00000261772.13",
"protein_id": "ENSP00000261772.8",
"transcript_support_level": 1,
"aa_start": 685,
"aa_end": null,
"aa_length": 968,
"cds_start": 2054,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001605.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261772.13"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2054T>C",
"hgvs_p": "p.Val685Ala",
"transcript": "ENST00000565361.3",
"protein_id": "ENSP00000455360.3",
"transcript_support_level": 5,
"aa_start": 685,
"aa_end": null,
"aa_length": 999,
"cds_start": 2054,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565361.3"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2054T>C",
"hgvs_p": "p.Val685Ala",
"transcript": "ENST00000896288.1",
"protein_id": "ENSP00000566347.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 999,
"cds_start": 2054,
"cds_end": null,
"cds_length": 3000,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896288.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2054T>C",
"hgvs_p": "p.Val685Ala",
"transcript": "ENST00000675853.1",
"protein_id": "ENSP00000502367.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 984,
"cds_start": 2054,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675853.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2054T>C",
"hgvs_p": "p.Val685Ala",
"transcript": "ENST00000951926.1",
"protein_id": "ENSP00000621985.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 984,
"cds_start": 2054,
"cds_end": null,
"cds_length": 2955,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951926.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2081T>C",
"hgvs_p": "p.Val694Ala",
"transcript": "ENST00000675045.1",
"protein_id": "ENSP00000502014.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 977,
"cds_start": 2081,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675045.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2054T>C",
"hgvs_p": "p.Val685Ala",
"transcript": "ENST00000674691.1",
"protein_id": "ENSP00000502247.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 968,
"cds_start": 2054,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674691.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2054T>C",
"hgvs_p": "p.Val685Ala",
"transcript": "ENST00000674963.1",
"protein_id": "ENSP00000501924.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 968,
"cds_start": 2054,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674963.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2054T>C",
"hgvs_p": "p.Val685Ala",
"transcript": "ENST00000675643.1",
"protein_id": "ENSP00000502797.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 968,
"cds_start": 2054,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675643.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2054T>C",
"hgvs_p": "p.Val685Ala",
"transcript": "ENST00000896284.1",
"protein_id": "ENSP00000566343.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 968,
"cds_start": 2054,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896284.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2054T>C",
"hgvs_p": "p.Val685Ala",
"transcript": "ENST00000896291.1",
"protein_id": "ENSP00000566350.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 968,
"cds_start": 2054,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896291.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2054T>C",
"hgvs_p": "p.Val685Ala",
"transcript": "ENST00000934581.1",
"protein_id": "ENSP00000604640.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 968,
"cds_start": 2054,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934581.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2054T>C",
"hgvs_p": "p.Val685Ala",
"transcript": "ENST00000934584.1",
"protein_id": "ENSP00000604643.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 968,
"cds_start": 2054,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934584.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2054T>C",
"hgvs_p": "p.Val685Ala",
"transcript": "ENST00000951922.1",
"protein_id": "ENSP00000621981.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 968,
"cds_start": 2054,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951922.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2051T>C",
"hgvs_p": "p.Val684Ala",
"transcript": "ENST00000951923.1",
"protein_id": "ENSP00000621982.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 967,
"cds_start": 2051,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951923.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2045T>C",
"hgvs_p": "p.Val682Ala",
"transcript": "ENST00000951924.1",
"protein_id": "ENSP00000621983.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 965,
"cds_start": 2045,
"cds_end": null,
"cds_length": 2898,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951924.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2054T>C",
"hgvs_p": "p.Val685Ala",
"transcript": "ENST00000896285.1",
"protein_id": "ENSP00000566344.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 963,
"cds_start": 2054,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896285.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2033T>C",
"hgvs_p": "p.Val678Ala",
"transcript": "ENST00000674512.1",
"protein_id": "ENSP00000501613.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 961,
"cds_start": 2033,
"cds_end": null,
"cds_length": 2886,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674512.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2027T>C",
"hgvs_p": "p.Val676Ala",
"transcript": "ENST00000675133.1",
"protein_id": "ENSP00000502230.1",
"transcript_support_level": null,
"aa_start": 676,
"aa_end": null,
"aa_length": 959,
"cds_start": 2027,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675133.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.2003T>C",
"hgvs_p": "p.Val668Ala",
"transcript": "ENST00000934582.1",
"protein_id": "ENSP00000604641.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 951,
"cds_start": 2003,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934582.1"
},
{
"aa_ref": "V",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AARS1",
"gene_hgnc_id": 20,
"hgvs_c": "c.1970T>C",
"hgvs_p": "p.Val657Ala",
"transcript": "ENST00000675953.1",
"protein_id": "ENSP00000502321.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 940,
"cds_start": 1970,
"cds_end": null,
"cds_length": 2823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8886631727218628,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.561,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.93,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.047,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001605.3",
"gene_symbol": "AARS1",
"hgnc_id": 20,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,Unknown",
"hgvs_c": "c.2054T>C",
"hgvs_p": "p.Val685Ala"
}
],
"clinvar_disease": "8 conditions",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "8 conditions",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}