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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: 12-32502136-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=32502136&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "FGD4",
"hgnc_id": 19125,
"hgvs_c": "c.-448C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_139241.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 24,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Charcot-Marie-Tooth disease type 4H",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3400000035762787,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 903,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8465,
"cdna_start": null,
"cds_end": null,
"cds_length": 2712,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001370298.3",
"gene_hgnc_id": 19125,
"gene_symbol": "FGD4",
"hgvs_c": "c.167-62001C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000534526.7",
"protein_coding": true,
"protein_id": "NP_001357227.2",
"strand": true,
"transcript": "NM_001370298.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 903,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8465,
"cdna_start": null,
"cds_end": null,
"cds_length": 2712,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000534526.7",
"gene_hgnc_id": 19125,
"gene_symbol": "FGD4",
"hgvs_c": "c.167-62001C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001370298.3",
"protein_coding": true,
"protein_id": "ENSP00000449273.1",
"strand": true,
"transcript": "ENST00000534526.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1439,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000494275.5",
"gene_hgnc_id": 19125,
"gene_symbol": "FGD4",
"hgvs_c": "n.88C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000494275.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 766,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8359,
"cdna_start": null,
"cds_end": null,
"cds_length": 2301,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_139241.3",
"gene_hgnc_id": 19125,
"gene_symbol": "FGD4",
"hgvs_c": "c.-448C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_640334.2",
"strand": true,
"transcript": "NM_139241.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 673,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3373,
"cdna_start": null,
"cds_end": null,
"cds_length": 2022,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 20,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000682739.1",
"gene_hgnc_id": 19125,
"gene_symbol": "FGD4",
"hgvs_c": "c.-1220C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507616.1",
"strand": true,
"transcript": "ENST00000682739.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 207,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1629,
"cdna_start": null,
"cds_end": null,
"cds_length": 624,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000472289.5",
"gene_hgnc_id": 19125,
"gene_symbol": "FGD4",
"hgvs_c": "c.-448C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434356.1",
"strand": true,
"transcript": "ENST00000472289.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 908,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8439,
"cdna_start": null,
"cds_end": null,
"cds_length": 2727,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047428292.1",
"gene_hgnc_id": 19125,
"gene_symbol": "FGD4",
"hgvs_c": "c.-102C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284248.1",
"strand": true,
"transcript": "XM_047428292.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 766,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8359,
"cdna_start": null,
"cds_end": null,
"cds_length": 2301,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_139241.3",
"gene_hgnc_id": 19125,
"gene_symbol": "FGD4",
"hgvs_c": "c.-448C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_640334.2",
"strand": true,
"transcript": "NM_139241.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 673,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3373,
"cdna_start": null,
"cds_end": null,
"cds_length": 2022,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 20,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000682739.1",
"gene_hgnc_id": 19125,
"gene_symbol": "FGD4",
"hgvs_c": "c.-1220C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507616.1",
"strand": true,
"transcript": "ENST00000682739.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 207,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1629,
"cdna_start": null,
"cds_end": null,
"cds_length": 624,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000472289.5",
"gene_hgnc_id": 19125,
"gene_symbol": "FGD4",
"hgvs_c": "c.-448C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434356.1",
"strand": true,
"transcript": "ENST00000472289.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 908,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8439,
"cdna_start": null,
"cds_end": null,
"cds_length": 2727,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047428292.1",
"gene_hgnc_id": 19125,
"gene_symbol": "FGD4",
"hgvs_c": "c.-102C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284248.1",
"strand": true,
"transcript": "XM_047428292.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 887,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4325,
"cdna_start": null,
"cds_end": null,
"cds_length": 2664,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384126.1",
"gene_hgnc_id": 19125,
"gene_symbol": "FGD4",
"hgvs_c": "c.167-62001C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371055.1",
"strand": true,
"transcript": "NM_001384126.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 851,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8235,
"cdna_start": null,
"cds_end": null,
"cds_length": 2556,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001304481.2",
"gene_hgnc_id": 19125,
"gene_symbol": "FGD4",
"hgvs_c": "c.10+15993C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291410.1",
"strand": true,
"transcript": "NM_001304481.2",
"transcript_support_level": null
},
{
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"aa_length": 851,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2924,
"cdna_start": null,
"cds_end": null,
"cds_length": 2556,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000531134.7",
"gene_hgnc_id": 19125,
"gene_symbol": "FGD4",
"hgvs_c": "c.10+15993C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431323.1",
"strand": true,
"transcript": "ENST00000531134.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 673,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8051,
"cdna_start": null,
"cds_end": null,
"cds_length": 2022,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001330374.2",
"gene_hgnc_id": 19125,
"gene_symbol": "FGD4",
"hgvs_c": "c.-341+15993C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317303.1",
"strand": true,
"transcript": "NM_001330374.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 922,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8315,
"cdna_start": null,
"cds_end": null,
"cds_length": 2769,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047428291.1",
"gene_hgnc_id": 19125,
"gene_symbol": "FGD4",
"hgvs_c": "c.144-9694C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284247.1",
"strand": true,
"transcript": "XM_047428291.1",
"transcript_support_level": null
},
{
"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": 2987,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000493087.5",
"gene_hgnc_id": 19125,
"gene_symbol": "FGD4",
"hgvs_c": "n.-448C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000437109.1",
"strand": true,
"transcript": "ENST00000493087.5",
"transcript_support_level": 2
},
{
"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": 2987,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000493087.5",
"gene_hgnc_id": 19125,
"gene_symbol": "FGD4",
"hgvs_c": "n.-448C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000437109.1",
"strand": true,
"transcript": "ENST00000493087.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 537,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000497153.5",
"gene_hgnc_id": 19125,
"gene_symbol": "FGD4",
"hgvs_c": "n.6C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000497153.5",
"transcript_support_level": 4
},
{
"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": 2987,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000493087.5",
"gene_hgnc_id": 19125,
"gene_symbol": "FGD4",
"hgvs_c": "n.-448C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000437109.1",
"strand": true,
"transcript": "ENST00000493087.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 549,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000550091.5",
"gene_hgnc_id": 19125,
"gene_symbol": "FGD4",
"hgvs_c": "n.105-62001C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000550091.5",
"transcript_support_level": 4
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