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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: 2-241188750-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=241188750&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ANO7",
"hgnc_id": 31677,
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Gly47Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000274979.12",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 176,
"alphamissense_prediction": null,
"alphamissense_score": 0.107,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.046111613512039185,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 933,
"aa_ref": "G",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4128,
"cdna_start": 242,
"cds_end": null,
"cds_length": 2802,
"cds_start": 139,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000274979.12",
"gene_hgnc_id": 31677,
"gene_symbol": "ANO7",
"hgvs_c": "c.139G>A",
"hgvs_p": "p.Gly47Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000274979.8",
"strand": true,
"transcript": "ENST00000274979.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 879,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4560,
"cdna_start": null,
"cds_end": null,
"cds_length": 2640,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001370694.2",
"gene_hgnc_id": 31677,
"gene_symbol": "ANO7",
"hgvs_c": "c.-24G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000674324.2",
"protein_coding": true,
"protein_id": "NP_001357623.1",
"strand": true,
"transcript": "NM_001370694.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 879,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4560,
"cdna_start": null,
"cds_end": null,
"cds_length": 2640,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000674324.2",
"gene_hgnc_id": 31677,
"gene_symbol": "ANO7",
"hgvs_c": "c.-24G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001370694.2",
"protein_coding": true,
"protein_id": "ENSP00000501393.1",
"strand": true,
"transcript": "ENST00000674324.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 125,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 726,
"cdna_start": null,
"cds_end": null,
"cds_length": 378,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000402530.8",
"gene_hgnc_id": 31677,
"gene_symbol": "ANO7",
"hgvs_c": "c.-24G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383985.4",
"strand": true,
"transcript": "ENST00000402530.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 928,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3841,
"cdna_start": 74,
"cds_end": null,
"cds_length": 2787,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047444596.1",
"gene_hgnc_id": 31677,
"gene_symbol": "ANO7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Gly8Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300552.1",
"strand": true,
"transcript": "XM_047444596.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 927,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3838,
"cdna_start": 74,
"cds_end": null,
"cds_length": 2784,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047444597.1",
"gene_hgnc_id": 31677,
"gene_symbol": "ANO7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Gly8Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300553.1",
"strand": true,
"transcript": "XM_047444597.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 924,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3829,
"cdna_start": 74,
"cds_end": null,
"cds_length": 2775,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047444598.1",
"gene_hgnc_id": 31677,
"gene_symbol": "ANO7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Gly8Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300554.1",
"strand": true,
"transcript": "XM_047444598.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 920,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4638,
"cdna_start": 74,
"cds_end": null,
"cds_length": 2763,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047444599.1",
"gene_hgnc_id": 31677,
"gene_symbol": "ANO7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Gly8Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300555.1",
"strand": true,
"transcript": "XM_047444599.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 906,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3775,
"cdna_start": 74,
"cds_end": null,
"cds_length": 2721,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047444600.1",
"gene_hgnc_id": 31677,
"gene_symbol": "ANO7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Gly8Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300556.1",
"strand": true,
"transcript": "XM_047444600.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 905,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3772,
"cdna_start": 74,
"cds_end": null,
"cds_length": 2718,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047444601.1",
"gene_hgnc_id": 31677,
"gene_symbol": "ANO7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Gly8Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300557.1",
"strand": true,
"transcript": "XM_047444601.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 903,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3766,
"cdna_start": 74,
"cds_end": null,
"cds_length": 2712,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047444602.1",
"gene_hgnc_id": 31677,
"gene_symbol": "ANO7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Gly8Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300558.1",
"strand": true,
"transcript": "XM_047444602.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 901,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3760,
"cdna_start": 74,
"cds_end": null,
"cds_length": 2706,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011511263.3",
"gene_hgnc_id": 31677,
"gene_symbol": "ANO7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Gly8Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509565.2",
"strand": true,
"transcript": "XM_011511263.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 893,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4557,
"cdna_start": 74,
"cds_end": null,
"cds_length": 2682,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047444603.1",
"gene_hgnc_id": 31677,
"gene_symbol": "ANO7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Gly8Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300559.1",
"strand": true,
"transcript": "XM_047444603.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 871,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2728,
"cdna_start": 74,
"cds_end": null,
"cds_length": 2616,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047444604.1",
"gene_hgnc_id": 31677,
"gene_symbol": "ANO7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Gly8Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300560.1",
"strand": true,
"transcript": "XM_047444604.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 851,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2703,
"cdna_start": 74,
"cds_end": null,
"cds_length": 2556,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047444606.1",
"gene_hgnc_id": 31677,
"gene_symbol": "ANO7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Gly8Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300562.1",
"strand": true,
"transcript": "XM_047444606.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 844,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3414,
"cdna_start": 74,
"cds_end": null,
"cds_length": 2535,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011511267.3",
"gene_hgnc_id": 31677,
"gene_symbol": "ANO7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Gly8Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011509569.2",
"strand": true,
"transcript": "XM_011511267.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 829,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2634,
"cdna_start": 74,
"cds_end": null,
"cds_length": 2490,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047444607.1",
"gene_hgnc_id": 31677,
"gene_symbol": "ANO7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Gly8Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300563.1",
"strand": true,
"transcript": "XM_047444607.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 817,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2551,
"cdna_start": 74,
"cds_end": null,
"cds_length": 2454,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047444608.1",
"gene_hgnc_id": 31677,
"gene_symbol": "ANO7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Gly8Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300564.1",
"strand": true,
"transcript": "XM_047444608.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 817,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2654,
"cdna_start": 74,
"cds_end": null,
"cds_length": 2454,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047444609.1",
"gene_hgnc_id": 31677,
"gene_symbol": "ANO7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Gly8Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300565.1",
"strand": true,
"transcript": "XM_047444609.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 817,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2624,
"cdna_start": 74,
"cds_end": null,
"cds_length": 2454,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047444610.1",
"gene_hgnc_id": 31677,
"gene_symbol": "ANO7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Gly8Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300566.1",
"strand": true,
"transcript": "XM_047444610.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 815,
"aa_ref": "G",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2559,
"cdna_start": 74,
"cds_end": null,
"cds_length": 2448,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047444611.1",
"gene_hgnc_id": 31677,
"gene_symbol": "ANO7",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Gly8Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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