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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: 15-75349153-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=75349153&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 75349153,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000355059.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Gly83Asp",
"transcript": "NM_024608.4",
"protein_id": "NP_078884.2",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 390,
"cds_start": 248,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 3711,
"mane_select": "ENST00000355059.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Gly83Asp",
"transcript": "ENST00000355059.9",
"protein_id": "ENSP00000347170.4",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 390,
"cds_start": 248,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 3711,
"mane_select": "NM_024608.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Gly83Asp",
"transcript": "ENST00000569035.5",
"protein_id": "ENSP00000455730.1",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 390,
"cds_start": 248,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 659,
"cdna_end": null,
"cdna_length": 1797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.506G>A",
"hgvs_p": "p.Gly169Asp",
"transcript": "NM_001256552.1",
"protein_id": "NP_001243481.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 476,
"cds_start": 506,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 1820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Gly83Asp",
"transcript": "ENST00000564784.5",
"protein_id": "ENSP00000457352.1",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 390,
"cds_start": 248,
"cds_end": null,
"cds_length": 1173,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Gly83Asp",
"transcript": "ENST00000565051.5",
"protein_id": "ENSP00000457056.1",
"transcript_support_level": 5,
"aa_start": 83,
"aa_end": null,
"aa_length": 198,
"cds_start": 248,
"cds_end": null,
"cds_length": 598,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Gly83Asp",
"transcript": "ENST00000567657.5",
"protein_id": "ENSP00000455949.1",
"transcript_support_level": 3,
"aa_start": 83,
"aa_end": null,
"aa_length": 183,
"cds_start": 248,
"cds_end": null,
"cds_length": 554,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 780,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Gly83Asp",
"transcript": "ENST00000567005.1",
"protein_id": "ENSP00000454292.1",
"transcript_support_level": 4,
"aa_start": 83,
"aa_end": null,
"aa_length": 153,
"cds_start": 248,
"cds_end": null,
"cds_length": 464,
"cdna_start": 316,
"cdna_end": null,
"cdna_length": 532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Gly83Asp",
"transcript": "ENST00000564257.1",
"protein_id": "ENSP00000456852.1",
"transcript_support_level": 3,
"aa_start": 83,
"aa_end": null,
"aa_length": 131,
"cds_start": 248,
"cds_end": null,
"cds_length": 396,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 558,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Gly83Asp",
"transcript": "ENST00000568059.1",
"protein_id": "ENSP00000455745.1",
"transcript_support_level": 4,
"aa_start": 83,
"aa_end": null,
"aa_length": 87,
"cds_start": 248,
"cds_end": null,
"cds_length": 265,
"cdna_start": 555,
"cdna_end": null,
"cdna_length": 572,
"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": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "n.562G>A",
"hgvs_p": null,
"transcript": "ENST00000561643.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 3271,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "n.219G>A",
"hgvs_p": null,
"transcript": "ENST00000564738.5",
"protein_id": null,
"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": 612,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "n.402G>A",
"hgvs_p": null,
"transcript": "ENST00000564951.1",
"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": 939,
"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": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "n.248G>A",
"hgvs_p": null,
"transcript": "ENST00000568519.5",
"protein_id": "ENSP00000456945.1",
"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": 771,
"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": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "n.661G>A",
"hgvs_p": null,
"transcript": "NR_046311.2",
"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": 3667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.-88G>A",
"hgvs_p": null,
"transcript": "NM_001352519.2",
"protein_id": "NP_001339448.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 192,
"cds_start": -4,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.111+137G>A",
"hgvs_p": null,
"transcript": "NM_001352520.2",
"protein_id": "NP_001339449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "n.375+1680G>A",
"hgvs_p": null,
"transcript": "ENST00000567959.5",
"protein_id": null,
"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": 801,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.*2G>A",
"hgvs_p": null,
"transcript": "ENST00000569506.1",
"protein_id": "ENSP00000457371.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 81,
"cds_start": -4,
"cds_end": null,
"cds_length": 246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.*55G>A",
"hgvs_p": null,
"transcript": "ENST00000566752.5",
"protein_id": "ENSP00000457541.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 63,
"cds_start": -4,
"cds_end": null,
"cds_length": 193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.*96G>A",
"hgvs_p": null,
"transcript": "ENST00000566313.5",
"protein_id": "ENSP00000457081.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 49,
"cds_start": -4,
"cds_end": null,
"cds_length": 152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.*129G>A",
"hgvs_p": null,
"transcript": "ENST00000568881.1",
"protein_id": "ENSP00000454729.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 38,
"cds_start": -4,
"cds_end": null,
"cds_length": 119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEIL1",
"gene_hgnc_id": 18448,
"hgvs_c": "c.*182G>A",
"hgvs_p": null,
"transcript": "ENST00000564500.5",
"protein_id": "ENSP00000456466.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 21,
"cds_start": -4,
"cds_end": null,
"cds_length": 66,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NEIL1",
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"dbsnp": "rs5745906",
"frequency_reference_population": 0.0010338614,
"hom_count_reference_population": 4,
"allele_count_reference_population": 1664,
"gnomad_exomes_af": 0.00106168,
"gnomad_genomes_af": 0.000767837,
"gnomad_exomes_ac": 1547,
"gnomad_genomes_ac": 117,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04553937911987305,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.86,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9672,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.145,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 8,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000355059.9",
"gene_symbol": "NEIL1",
"hgnc_id": 18448,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.248G>A",
"hgvs_p": "p.Gly83Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}