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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: 11-62626633-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=62626633&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GANAB",
"hgnc_id": 4138,
"hgvs_c": "c.2515C>T",
"hgvs_p": "p.Arg839Trp",
"inheritance_mode": "AD",
"pathogenic_score": 16,
"score": 16,
"transcript": "NM_198335.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PM2,PP3_Moderate,PP5_Very_Strong",
"acmg_score": 16,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.8158,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.36,
"chr": "11",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE,Polycystic kidney disease 3 with or without polycystic liver disease,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8541380167007446,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 944,
"aa_ref": "R",
"aa_start": 817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3835,
"cdna_start": 2463,
"cds_end": null,
"cds_length": 2835,
"cds_start": 2449,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_198334.3",
"gene_hgnc_id": 4138,
"gene_symbol": "GANAB",
"hgvs_c": "c.2449C>T",
"hgvs_p": "p.Arg817Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356638.8",
"protein_coding": true,
"protein_id": "NP_938148.1",
"strand": false,
"transcript": "NM_198334.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 944,
"aa_ref": "R",
"aa_start": 817,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3835,
"cdna_start": 2463,
"cds_end": null,
"cds_length": 2835,
"cds_start": 2449,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000356638.8",
"gene_hgnc_id": 4138,
"gene_symbol": "GANAB",
"hgvs_c": "c.2449C>T",
"hgvs_p": "p.Arg817Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198334.3",
"protein_coding": true,
"protein_id": "ENSP00000349053.3",
"strand": false,
"transcript": "ENST00000356638.8",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 966,
"aa_ref": "R",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3906,
"cdna_start": 2531,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000346178.8",
"gene_hgnc_id": 4138,
"gene_symbol": "GANAB",
"hgvs_c": "c.2515C>T",
"hgvs_p": "p.Arg839Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340466.4",
"strand": false,
"transcript": "ENST00000346178.8",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 847,
"aa_ref": "R",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3836,
"cdna_start": 2467,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2158,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000540933.5",
"gene_hgnc_id": 4138,
"gene_symbol": "GANAB",
"hgvs_c": "c.2158C>T",
"hgvs_p": "p.Arg720Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442962.1",
"strand": false,
"transcript": "ENST00000540933.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3718,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000532402.5",
"gene_hgnc_id": 4138,
"gene_symbol": "GANAB",
"hgvs_c": "n.*2181C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432181.1",
"strand": false,
"transcript": "ENST00000532402.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3718,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000532402.5",
"gene_hgnc_id": 4138,
"gene_symbol": "GANAB",
"hgvs_c": "n.*2181C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000432181.1",
"strand": false,
"transcript": "ENST00000532402.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 966,
"aa_ref": "R",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3901,
"cdna_start": 2529,
"cds_end": null,
"cds_length": 2901,
"cds_start": 2515,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_198335.4",
"gene_hgnc_id": 4138,
"gene_symbol": "GANAB",
"hgvs_c": "c.2515C>T",
"hgvs_p": "p.Arg839Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_938149.2",
"strand": false,
"transcript": "NM_198335.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 954,
"aa_ref": "R",
"aa_start": 827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3856,
"cdna_start": 2488,
"cds_end": null,
"cds_length": 2865,
"cds_start": 2479,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000933202.1",
"gene_hgnc_id": 4138,
"gene_symbol": "GANAB",
"hgvs_c": "c.2479C>T",
"hgvs_p": "p.Arg827Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603261.1",
"strand": false,
"transcript": "ENST00000933202.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 944,
"aa_ref": "R",
"aa_start": 817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3853,
"cdna_start": 2476,
"cds_end": null,
"cds_length": 2835,
"cds_start": 2449,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000933199.1",
"gene_hgnc_id": 4138,
"gene_symbol": "GANAB",
"hgvs_c": "c.2449C>T",
"hgvs_p": "p.Arg817Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603258.1",
"strand": false,
"transcript": "ENST00000933199.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 943,
"aa_ref": "R",
"aa_start": 816,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3832,
"cdna_start": 2460,
"cds_end": null,
"cds_length": 2832,
"cds_start": 2446,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000881669.1",
"gene_hgnc_id": 4138,
"gene_symbol": "GANAB",
"hgvs_c": "c.2446C>T",
"hgvs_p": "p.Arg816Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551728.1",
"strand": false,
"transcript": "ENST00000881669.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 942,
"aa_ref": "R",
"aa_start": 815,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3842,
"cdna_start": 2470,
"cds_end": null,
"cds_length": 2829,
"cds_start": 2443,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000933200.1",
"gene_hgnc_id": 4138,
"gene_symbol": "GANAB",
"hgvs_c": "c.2443C>T",
"hgvs_p": "p.Arg815Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603259.1",
"strand": false,
"transcript": "ENST00000933200.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 939,
"aa_ref": "R",
"aa_start": 812,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3825,
"cdna_start": 2453,
"cds_end": null,
"cds_length": 2820,
"cds_start": 2434,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000881668.1",
"gene_hgnc_id": 4138,
"gene_symbol": "GANAB",
"hgvs_c": "c.2434C>T",
"hgvs_p": "p.Arg812Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551727.1",
"strand": false,
"transcript": "ENST00000881668.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 934,
"aa_ref": "R",
"aa_start": 807,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3805,
"cdna_start": 2433,
"cds_end": null,
"cds_length": 2805,
"cds_start": 2419,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000933201.1",
"gene_hgnc_id": 4138,
"gene_symbol": "GANAB",
"hgvs_c": "c.2419C>T",
"hgvs_p": "p.Arg807Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603260.1",
"strand": false,
"transcript": "ENST00000933201.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 896,
"aa_ref": "R",
"aa_start": 769,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3680,
"cdna_start": 2312,
"cds_end": null,
"cds_length": 2691,
"cds_start": 2305,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000881670.1",
"gene_hgnc_id": 4138,
"gene_symbol": "GANAB",
"hgvs_c": "c.2305C>T",
"hgvs_p": "p.Arg769Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551729.1",
"strand": false,
"transcript": "ENST00000881670.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 852,
"aa_ref": "R",
"aa_start": 725,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3559,
"cdna_start": 2187,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2173,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001278192.2",
"gene_hgnc_id": 4138,
"gene_symbol": "GANAB",
"hgvs_c": "c.2173C>T",
"hgvs_p": "p.Arg725Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265121.1",
"strand": false,
"transcript": "NM_001278192.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 852,
"aa_ref": "R",
"aa_start": 725,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2626,
"cdna_start": 2206,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2173,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000534779.5",
"gene_hgnc_id": 4138,
"gene_symbol": "GANAB",
"hgvs_c": "c.2173C>T",
"hgvs_p": "p.Arg725Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435306.1",
"strand": false,
"transcript": "ENST00000534779.5",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 847,
"aa_ref": "R",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3726,
"cdna_start": 2354,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2158,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001278194.2",
"gene_hgnc_id": 4138,
"gene_symbol": "GANAB",
"hgvs_c": "c.2158C>T",
"hgvs_p": "p.Arg720Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265123.1",
"strand": false,
"transcript": "NM_001278194.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 847,
"aa_ref": "R",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4072,
"cdna_start": 2700,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2158,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001329222.2",
"gene_hgnc_id": 4138,
"gene_symbol": "GANAB",
"hgvs_c": "c.2158C>T",
"hgvs_p": "p.Arg720Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316151.1",
"strand": false,
"transcript": "NM_001329222.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 847,
"aa_ref": "R",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3831,
"cdna_start": 2459,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2158,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001329223.2",
"gene_hgnc_id": 4138,
"gene_symbol": "GANAB",
"hgvs_c": "c.2158C>T",
"hgvs_p": "p.Arg720Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001316152.1",
"strand": false,
"transcript": "NM_001329223.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 847,
"aa_ref": "R",
"aa_start": 720,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3846,
"cdna_start": 2596,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2158,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000648273.1",
"gene_hgnc_id": 4138,
"gene_symbol": "GANAB",
"hgvs_c": "c.2158C>T",
"hgvs_p": "p.Arg720Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497655.1",
"strand": false,
"transcript": "ENST00000648273.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 830,
"aa_ref": "R",
"aa_start": 703,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3493,
"cdna_start": 2121,
"cds_end": null,
"cds_length": 2493,
"cds_start": 2107,
"consequences": [
"missense_variant"
],
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}