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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: 3-47006024-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47006024&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47006024,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000450053.8",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.6880G>A",
"hgvs_p": "p.Glu2294Lys",
"transcript": "NM_015175.3",
"protein_id": "NP_055990.1",
"transcript_support_level": null,
"aa_start": 2294,
"aa_end": null,
"aa_length": 2754,
"cds_start": 6880,
"cds_end": null,
"cds_length": 8265,
"cdna_start": 7076,
"cdna_end": null,
"cdna_length": 8842,
"mane_select": "ENST00000450053.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.6880G>A",
"hgvs_p": "p.Glu2294Lys",
"transcript": "ENST00000450053.8",
"protein_id": "ENSP00000415034.2",
"transcript_support_level": 2,
"aa_start": 2294,
"aa_end": null,
"aa_length": 2754,
"cds_start": 6880,
"cds_end": null,
"cds_length": 8265,
"cdna_start": 7076,
"cdna_end": null,
"cdna_length": 8842,
"mane_select": "NM_015175.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.4741G>A",
"hgvs_p": "p.Glu1581Lys",
"transcript": "ENST00000416683.5",
"protein_id": "ENSP00000410405.1",
"transcript_support_level": 1,
"aa_start": 1581,
"aa_end": null,
"aa_length": 2041,
"cds_start": 4741,
"cds_end": null,
"cds_length": 6126,
"cdna_start": 4743,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.1984G>A",
"hgvs_p": "p.Glu662Lys",
"transcript": "ENST00000443829.5",
"protein_id": "ENSP00000414560.1",
"transcript_support_level": 1,
"aa_start": 662,
"aa_end": null,
"aa_length": 1092,
"cds_start": 1984,
"cds_end": null,
"cds_length": 3279,
"cdna_start": 1985,
"cdna_end": null,
"cdna_length": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.6778G>A",
"hgvs_p": "p.Glu2260Lys",
"transcript": "NM_001365116.2",
"protein_id": "NP_001352045.1",
"transcript_support_level": null,
"aa_start": 2260,
"aa_end": null,
"aa_length": 2720,
"cds_start": 6778,
"cds_end": null,
"cds_length": 8163,
"cdna_start": 6836,
"cdna_end": null,
"cdna_length": 8602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.6778G>A",
"hgvs_p": "p.Glu2260Lys",
"transcript": "ENST00000651747.1",
"protein_id": "ENSP00000499216.1",
"transcript_support_level": null,
"aa_start": 2260,
"aa_end": null,
"aa_length": 2720,
"cds_start": 6778,
"cds_end": null,
"cds_length": 8163,
"cdna_start": 6836,
"cdna_end": null,
"cdna_length": 8605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.361G>A",
"hgvs_p": "p.Glu121Lys",
"transcript": "ENST00000423436.1",
"protein_id": "ENSP00000415063.1",
"transcript_support_level": 3,
"aa_start": 121,
"aa_end": null,
"aa_length": 254,
"cds_start": 361,
"cds_end": null,
"cds_length": 765,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 54,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.6859G>A",
"hgvs_p": "p.Glu2287Lys",
"transcript": "XM_047447785.1",
"protein_id": "XP_047303741.1",
"transcript_support_level": null,
"aa_start": 2287,
"aa_end": null,
"aa_length": 2747,
"cds_start": 6859,
"cds_end": null,
"cds_length": 8244,
"cdna_start": 6917,
"cdna_end": null,
"cdna_length": 8683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.6799G>A",
"hgvs_p": "p.Glu2267Lys",
"transcript": "XM_006713072.4",
"protein_id": "XP_006713135.1",
"transcript_support_level": null,
"aa_start": 2267,
"aa_end": null,
"aa_length": 2727,
"cds_start": 6799,
"cds_end": null,
"cds_length": 8184,
"cdna_start": 6995,
"cdna_end": null,
"cdna_length": 8761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.6880G>A",
"hgvs_p": "p.Glu2294Lys",
"transcript": "XM_011533533.3",
"protein_id": "XP_011531835.1",
"transcript_support_level": null,
"aa_start": 2294,
"aa_end": null,
"aa_length": 2724,
"cds_start": 6880,
"cds_end": null,
"cds_length": 8175,
"cdna_start": 7076,
"cdna_end": null,
"cdna_length": 8752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 52,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.6511G>A",
"hgvs_p": "p.Glu2171Lys",
"transcript": "XM_047447786.1",
"protein_id": "XP_047303742.1",
"transcript_support_level": null,
"aa_start": 2171,
"aa_end": null,
"aa_length": 2631,
"cds_start": 6511,
"cds_end": null,
"cds_length": 7896,
"cdna_start": 6707,
"cdna_end": null,
"cdna_length": 8473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.6430G>A",
"hgvs_p": "p.Glu2144Lys",
"transcript": "XM_047447787.1",
"protein_id": "XP_047303743.1",
"transcript_support_level": null,
"aa_start": 2144,
"aa_end": null,
"aa_length": 2604,
"cds_start": 6430,
"cds_end": null,
"cds_length": 7815,
"cdna_start": 6626,
"cdna_end": null,
"cdna_length": 8392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.6340G>A",
"hgvs_p": "p.Glu2114Lys",
"transcript": "XM_047447788.1",
"protein_id": "XP_047303744.1",
"transcript_support_level": null,
"aa_start": 2114,
"aa_end": null,
"aa_length": 2574,
"cds_start": 6340,
"cds_end": null,
"cds_length": 7725,
"cdna_start": 7564,
"cdna_end": null,
"cdna_length": 9330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 53,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.6145G>A",
"hgvs_p": "p.Glu2049Lys",
"transcript": "XM_047447789.1",
"protein_id": "XP_047303745.1",
"transcript_support_level": null,
"aa_start": 2049,
"aa_end": null,
"aa_length": 2509,
"cds_start": 6145,
"cds_end": null,
"cds_length": 7530,
"cdna_start": 6832,
"cdna_end": null,
"cdna_length": 8598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.6880G>A",
"hgvs_p": "p.Glu2294Lys",
"transcript": "XM_047447790.1",
"protein_id": "XP_047303746.1",
"transcript_support_level": null,
"aa_start": 2294,
"aa_end": null,
"aa_length": 2435,
"cds_start": 6880,
"cds_end": null,
"cds_length": 7308,
"cdna_start": 7076,
"cdna_end": null,
"cdna_length": 7598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.5788G>A",
"hgvs_p": "p.Glu1930Lys",
"transcript": "XM_047447791.1",
"protein_id": "XP_047303747.1",
"transcript_support_level": null,
"aa_start": 1930,
"aa_end": null,
"aa_length": 2390,
"cds_start": 5788,
"cds_end": null,
"cds_length": 7173,
"cdna_start": 5901,
"cdna_end": null,
"cdna_length": 7667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "c.3352G>A",
"hgvs_p": "p.Glu1118Lys",
"transcript": "XM_047447794.1",
"protein_id": "XP_047303750.1",
"transcript_support_level": null,
"aa_start": 1118,
"aa_end": null,
"aa_length": 1578,
"cds_start": 3352,
"cds_end": null,
"cds_length": 4737,
"cdna_start": 3475,
"cdna_end": null,
"cdna_length": 5241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "n.939G>A",
"hgvs_p": null,
"transcript": "ENST00000486870.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "n.140G>A",
"hgvs_p": null,
"transcript": "ENST00000651350.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "n.881G>A",
"hgvs_p": null,
"transcript": "ENST00000651453.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"hgvs_c": "n.*553G>A",
"hgvs_p": null,
"transcript": "ENST00000441027.5",
"protein_id": "ENSP00000409601.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NBEAL2",
"gene_hgnc_id": 31928,
"dbsnp": "rs201342229",
"frequency_reference_population": 0.000029746301,
"hom_count_reference_population": 0,
"allele_count_reference_population": 48,
"gnomad_exomes_af": 0.0000177905,
"gnomad_genomes_af": 0.000144552,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 22,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24283424019813538,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.369,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1419,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.94,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000450053.8",
"gene_symbol": "NBEAL2",
"hgnc_id": 31928,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.6880G>A",
"hgvs_p": "p.Glu2294Lys"
}
],
"clinvar_disease": "Inborn genetic diseases,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}