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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: 4-113369521-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=113369521&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ANK2",
"hgnc_id": 493,
"hgvs_c": "c.11467A>G",
"hgvs_p": "p.Thr3823Ala",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001386174.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 52,
"alphamissense_prediction": null,
"alphamissense_score": 0.0875,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "4",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " ankyrin-B-related,Cardiac arrhythmia,Cardiovascular phenotype,Long QT syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08614444732666016,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3957,
"aa_ref": "T",
"aa_start": 3776,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14215,
"cdna_start": 11402,
"cds_end": null,
"cds_length": 11874,
"cds_start": 11326,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001148.6",
"gene_hgnc_id": 493,
"gene_symbol": "ANK2",
"hgvs_c": "c.11326A>G",
"hgvs_p": "p.Thr3776Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000357077.9",
"protein_coding": true,
"protein_id": "NP_001139.3",
"strand": true,
"transcript": "NM_001148.6",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3957,
"aa_ref": "T",
"aa_start": 3776,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 14215,
"cdna_start": 11402,
"cds_end": null,
"cds_length": 11874,
"cds_start": 11326,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000357077.9",
"gene_hgnc_id": 493,
"gene_symbol": "ANK2",
"hgvs_c": "c.11326A>G",
"hgvs_p": "p.Thr3776Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001148.6",
"protein_coding": true,
"protein_id": "ENSP00000349588.4",
"strand": true,
"transcript": "ENST00000357077.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 4183,
"aa_ref": "T",
"aa_start": 3823,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14898,
"cdna_start": 11717,
"cds_end": null,
"cds_length": 12552,
"cds_start": 11467,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000506344.6",
"gene_hgnc_id": 493,
"gene_symbol": "ANK2",
"hgvs_c": "c.11467A>G",
"hgvs_p": "p.Thr3823Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422888.2",
"strand": true,
"transcript": "ENST00000506344.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1872,
"aa_ref": "T",
"aa_start": 1691,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6313,
"cdna_start": 5124,
"cds_end": null,
"cds_length": 5619,
"cds_start": 5071,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000394537.7",
"gene_hgnc_id": 493,
"gene_symbol": "ANK2",
"hgvs_c": "c.5071A>G",
"hgvs_p": "p.Thr1691Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378044.3",
"strand": true,
"transcript": "ENST00000394537.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1863,
"aa_ref": "T",
"aa_start": 1682,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8051,
"cdna_start": 5239,
"cds_end": null,
"cds_length": 5592,
"cds_start": 5044,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000506722.5",
"gene_hgnc_id": 493,
"gene_symbol": "ANK2",
"hgvs_c": "c.5044A>G",
"hgvs_p": "p.Thr1682Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421067.1",
"strand": true,
"transcript": "ENST00000506722.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 965,
"aa_ref": "T",
"aa_start": 692,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5160,
"cdna_start": 2075,
"cds_end": null,
"cds_length": 2898,
"cds_start": 2074,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000514960.5",
"gene_hgnc_id": 493,
"gene_symbol": "ANK2",
"hgvs_c": "c.2074A>G",
"hgvs_p": "p.Thr692Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422853.1",
"strand": true,
"transcript": "ENST00000514960.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 683,
"aa_ref": "T",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4305,
"cdna_start": 1753,
"cds_end": null,
"cds_length": 2052,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000510275.8",
"gene_hgnc_id": 493,
"gene_symbol": "ANK2",
"hgvs_c": "c.1753A>G",
"hgvs_p": "p.Thr585Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421023.4",
"strand": true,
"transcript": "ENST00000510275.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 4183,
"aa_ref": "T",
"aa_start": 3823,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14898,
"cdna_start": 11717,
"cds_end": null,
"cds_length": 12552,
"cds_start": 11467,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_001386174.1",
"gene_hgnc_id": 493,
"gene_symbol": "ANK2",
"hgvs_c": "c.11467A>G",
"hgvs_p": "p.Thr3823Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373103.1",
"strand": true,
"transcript": "NM_001386174.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 4175,
"aa_ref": "T",
"aa_start": 3815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14874,
"cdna_start": 11693,
"cds_end": null,
"cds_length": 12528,
"cds_start": 11443,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "NM_001386175.1",
"gene_hgnc_id": 493,
"gene_symbol": "ANK2",
"hgvs_c": "c.11443A>G",
"hgvs_p": "p.Thr3815Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373104.1",
"strand": true,
"transcript": "NM_001386175.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3995,
"aa_ref": "T",
"aa_start": 3722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14932,
"cdna_start": 11363,
"cds_end": null,
"cds_length": 11988,
"cds_start": 11164,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000672209.1",
"gene_hgnc_id": 493,
"gene_symbol": "ANK2",
"hgvs_c": "c.11164A>G",
"hgvs_p": "p.Thr3722Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499982.1",
"strand": true,
"transcript": "ENST00000672209.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3984,
"aa_ref": "T",
"aa_start": 3803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15298,
"cdna_start": 12000,
"cds_end": null,
"cds_length": 11955,
"cds_start": 11407,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000672240.1",
"gene_hgnc_id": 493,
"gene_symbol": "ANK2",
"hgvs_c": "c.11407A>G",
"hgvs_p": "p.Thr3803Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500548.1",
"strand": true,
"transcript": "ENST00000672240.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3972,
"aa_ref": "T",
"aa_start": 3791,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15262,
"cdna_start": 11964,
"cds_end": null,
"cds_length": 11919,
"cds_start": 11371,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000671971.1",
"gene_hgnc_id": 493,
"gene_symbol": "ANK2",
"hgvs_c": "c.11371A>G",
"hgvs_p": "p.Thr3791Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499832.1",
"strand": true,
"transcript": "ENST00000671971.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3964,
"aa_ref": "T",
"aa_start": 3722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14363,
"cdna_start": 11363,
"cds_end": null,
"cds_length": 11895,
"cds_start": 11164,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000673298.1",
"gene_hgnc_id": 493,
"gene_symbol": "ANK2",
"hgvs_c": "c.11164A>G",
"hgvs_p": "p.Thr3722Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500245.1",
"strand": true,
"transcript": "ENST00000673298.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3961,
"aa_ref": "T",
"aa_start": 3722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12641,
"cdna_start": 11363,
"cds_end": null,
"cds_length": 11886,
"cds_start": 11164,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000503423.6",
"gene_hgnc_id": 493,
"gene_symbol": "ANK2",
"hgvs_c": "c.11164A>G",
"hgvs_p": "p.Thr3722Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421011.2",
"strand": true,
"transcript": "ENST00000503423.6",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3940,
"aa_ref": "T",
"aa_start": 3698,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14287,
"cdna_start": 11291,
"cds_end": null,
"cds_length": 11823,
"cds_start": 11092,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 41,
"exon_rank_end": null,
"feature": "NM_001386142.1",
"gene_hgnc_id": 493,
"gene_symbol": "ANK2",
"hgvs_c": "c.11092A>G",
"hgvs_p": "p.Thr3698Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373071.1",
"strand": true,
"transcript": "NM_001386142.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3939,
"aa_ref": "T",
"aa_start": 3758,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15163,
"cdna_start": 11865,
"cds_end": null,
"cds_length": 11820,
"cds_start": 11272,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000673363.1",
"gene_hgnc_id": 493,
"gene_symbol": "ANK2",
"hgvs_c": "c.11272A>G",
"hgvs_p": "p.Thr3758Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500539.1",
"strand": true,
"transcript": "ENST00000673363.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3936,
"aa_ref": "T",
"aa_start": 3755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14771,
"cdna_start": 11473,
"cds_end": null,
"cds_length": 11811,
"cds_start": 11263,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000672830.1",
"gene_hgnc_id": 493,
"gene_symbol": "ANK2",
"hgvs_c": "c.11263A>G",
"hgvs_p": "p.Thr3755Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500222.1",
"strand": true,
"transcript": "ENST00000672830.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3934,
"aa_ref": "T",
"aa_start": 3722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14485,
"cdna_start": 11363,
"cds_end": null,
"cds_length": 11805,
"cds_start": 11164,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000672068.1",
"gene_hgnc_id": 493,
"gene_symbol": "ANK2",
"hgvs_c": "c.11164A>G",
"hgvs_p": "p.Thr3722Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499902.1",
"strand": true,
"transcript": "ENST00000672068.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3924,
"aa_ref": "T",
"aa_start": 3743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11775,
"cdna_start": 11227,
"cds_end": null,
"cds_length": 11775,
"cds_start": 11227,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000264366.10",
"gene_hgnc_id": 493,
"gene_symbol": "ANK2",
"hgvs_c": "c.11227A>G",
"hgvs_p": "p.Thr3743Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000264366.6",
"strand": true,
"transcript": "ENST00000264366.10",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3924,
"aa_ref": "T",
"aa_start": 3743,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14732,
"cdna_start": 11434,
"cds_end": null,
"cds_length": 11775,
"cds_start": 11227,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "ENST00000672502.1",
"gene_hgnc_id": 493,
"gene_symbol": "ANK2",
"hgvs_c": "c.11227A>G",
"hgvs_p": "p.Thr3743Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499870.1",
"strand": true,
"transcript": "ENST00000672502.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 3915,
"aa_ref": "T",
"aa_start": 3734,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14697,
"cdna_start": 11399,
"cds_end": null,
"cds_length": 11748,
"cds_start": 11200,
"consequences": [
"missense_variant"
],
"exon_count": 47,
"exon_rank": 44,
"exon_rank_end": null,
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