← Back to variant description
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: 15-26621417-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=26621417&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 26621417,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000311550.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Asp120Asn",
"transcript": "NM_000814.6",
"protein_id": "NP_000805.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 473,
"cds_start": 358,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 5767,
"mane_select": "ENST00000311550.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Asp120Asn",
"transcript": "ENST00000311550.10",
"protein_id": "ENSP00000308725.5",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 473,
"cds_start": 358,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 462,
"cdna_end": null,
"cdna_length": 5767,
"mane_select": "NM_000814.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Asp176Asn",
"transcript": "ENST00000541819.6",
"protein_id": "ENSP00000442408.2",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 529,
"cds_start": 526,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 5934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Asp120Asn",
"transcript": "ENST00000299267.9",
"protein_id": "ENSP00000299267.4",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 473,
"cds_start": 358,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 5702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Asp120Asn",
"transcript": "NM_021912.5",
"protein_id": "NP_068712.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 473,
"cds_start": 358,
"cds_end": null,
"cds_length": 1422,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 5702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.259G>A",
"hgvs_p": "p.Asp87Asn",
"transcript": "ENST00000638099.1",
"protein_id": "ENSP00000490678.1",
"transcript_support_level": 5,
"aa_start": 87,
"aa_end": null,
"aa_length": 440,
"cds_start": 259,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 339,
"cdna_end": null,
"cdna_length": 2752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Asp49Asn",
"transcript": "NM_001191321.3",
"protein_id": "NP_001178250.1",
"transcript_support_level": null,
"aa_start": 49,
"aa_end": null,
"aa_length": 402,
"cds_start": 145,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 5537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.145G>A",
"hgvs_p": "p.Asp49Asn",
"transcript": "ENST00000400188.7",
"protein_id": "ENSP00000383049.3",
"transcript_support_level": 2,
"aa_start": 49,
"aa_end": null,
"aa_length": 402,
"cds_start": 145,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 1900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Asp35Asn",
"transcript": "NM_001191320.2",
"protein_id": "NP_001178249.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 388,
"cds_start": 103,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 270,
"cdna_end": null,
"cdna_length": 5575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Asp35Asn",
"transcript": "NM_001278631.2",
"protein_id": "NP_001265560.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 388,
"cds_start": 103,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 5863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Asp35Asn",
"transcript": "ENST00000545868.4",
"protein_id": "ENSP00000439169.1",
"transcript_support_level": 5,
"aa_start": 35,
"aa_end": null,
"aa_length": 388,
"cds_start": 103,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 203,
"cdna_end": null,
"cdna_length": 1267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.103G>A",
"hgvs_p": "p.Asp35Asn",
"transcript": "ENST00000636466.1",
"protein_id": "ENSP00000489768.1",
"transcript_support_level": 5,
"aa_start": 35,
"aa_end": null,
"aa_length": 388,
"cds_start": 103,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 4509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Asp61Asn",
"transcript": "XM_011521428.4",
"protein_id": "XP_011519730.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 414,
"cds_start": 181,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 218,
"cdna_end": null,
"cdna_length": 5523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "n.270G>A",
"hgvs_p": null,
"transcript": "ENST00000555094.5",
"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": 1494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "n.*190G>A",
"hgvs_p": null,
"transcript": "ENST00000555632.5",
"protein_id": "ENSP00000452041.1",
"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": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "n.1068G>A",
"hgvs_p": null,
"transcript": "ENST00000556166.2",
"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": 1583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "n.401G>A",
"hgvs_p": null,
"transcript": "ENST00000635832.1",
"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": 5593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "n.40G>A",
"hgvs_p": null,
"transcript": "ENST00000635994.1",
"protein_id": "ENSP00000489940.1",
"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": 5192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "n.980G>A",
"hgvs_p": null,
"transcript": "NR_103801.2",
"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": 1495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "n.*190G>A",
"hgvs_p": null,
"transcript": "ENST00000555632.5",
"protein_id": "ENSP00000452041.1",
"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": 2109,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "n.241-38003G>A",
"hgvs_p": null,
"transcript": "ENST00000554556.5",
"protein_id": "ENSP00000451077.1",
"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": 817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "n.-12G>A",
"hgvs_p": null,
"transcript": "ENST00000556636.5",
"protein_id": "ENSP00000452159.1",
"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": 501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"hgvs_c": "n.-59G>A",
"hgvs_p": null,
"transcript": "ENST00000636690.1",
"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": 100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GABRB3",
"gene_hgnc_id": 4083,
"dbsnp": "rs886037938",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9867636561393738,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.919,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.996,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.794,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000311550.10",
"gene_symbol": "GABRB3",
"hgnc_id": 4083,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Asp120Asn"
}
],
"clinvar_disease": " 1, 43, 5, childhood absence, susceptibility to,Developmental and epileptic encephalopathy,Epilepsy,Neurodevelopmental delay,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:1",
"phenotype_combined": "Developmental and epileptic encephalopathy, 43|Neurodevelopmental delay|Epilepsy, childhood absence, susceptibility to, 1;Epilepsy, childhood absence, susceptibility to, 5|not provided|Epilepsy",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}