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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: 20-23390028-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=23390028&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 23390028,
"ref": "G",
"alt": "T",
"effect": "stop_gained,splice_region_variant",
"transcript": "NM_001283018.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPB",
"gene_hgnc_id": 15751,
"hgvs_c": "c.479C>A",
"hgvs_p": "p.Ser160*",
"transcript": "NM_022080.3",
"protein_id": "NP_071363.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 298,
"cds_start": 479,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377026.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022080.3"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPB",
"gene_hgnc_id": 15751,
"hgvs_c": "c.479C>A",
"hgvs_p": "p.Ser160*",
"transcript": "ENST00000377026.4",
"protein_id": "ENSP00000366225.4",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 298,
"cds_start": 479,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022080.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377026.4"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPB",
"gene_hgnc_id": 15751,
"hgvs_c": "c.197C>A",
"hgvs_p": "p.Ser66*",
"transcript": "ENST00000398425.7",
"protein_id": "ENSP00000381459.3",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 204,
"cds_start": 197,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398425.7"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPB",
"gene_hgnc_id": 15751,
"hgvs_c": "c.491C>A",
"hgvs_p": "p.Ser164*",
"transcript": "NM_001283018.2",
"protein_id": "NP_001269947.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 302,
"cds_start": 491,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001283018.2"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPB",
"gene_hgnc_id": 15751,
"hgvs_c": "c.491C>A",
"hgvs_p": "p.Ser164*",
"transcript": "ENST00000617876.4",
"protein_id": "ENSP00000482826.1",
"transcript_support_level": 2,
"aa_start": 164,
"aa_end": null,
"aa_length": 302,
"cds_start": 491,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617876.4"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPB",
"gene_hgnc_id": 15751,
"hgvs_c": "c.473C>A",
"hgvs_p": "p.Ser158*",
"transcript": "ENST00000856933.1",
"protein_id": "ENSP00000526992.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 296,
"cds_start": 473,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856933.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPB",
"gene_hgnc_id": 15751,
"hgvs_c": "c.479C>A",
"hgvs_p": "p.Ser160*",
"transcript": "ENST00000963019.1",
"protein_id": "ENSP00000633078.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 281,
"cds_start": 479,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963019.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPB",
"gene_hgnc_id": 15751,
"hgvs_c": "c.479C>A",
"hgvs_p": "p.Ser160*",
"transcript": "ENST00000963020.1",
"protein_id": "ENSP00000633079.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 263,
"cds_start": 479,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963020.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPB",
"gene_hgnc_id": 15751,
"hgvs_c": "c.362C>A",
"hgvs_p": "p.Ser121*",
"transcript": "NM_001283020.2",
"protein_id": "NP_001269949.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 259,
"cds_start": 362,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001283020.2"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPB",
"gene_hgnc_id": 15751,
"hgvs_c": "c.362C>A",
"hgvs_p": "p.Ser121*",
"transcript": "ENST00000432543.6",
"protein_id": "ENSP00000413600.2",
"transcript_support_level": 2,
"aa_start": 121,
"aa_end": null,
"aa_length": 259,
"cds_start": 362,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432543.6"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPB",
"gene_hgnc_id": 15751,
"hgvs_c": "c.479C>A",
"hgvs_p": "p.Ser160*",
"transcript": "ENST00000856932.1",
"protein_id": "ENSP00000526991.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 258,
"cds_start": 479,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856932.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPB",
"gene_hgnc_id": 15751,
"hgvs_c": "c.479C>A",
"hgvs_p": "p.Ser160*",
"transcript": "ENST00000963021.1",
"protein_id": "ENSP00000633080.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 223,
"cds_start": 479,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963021.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPB",
"gene_hgnc_id": 15751,
"hgvs_c": "c.197C>A",
"hgvs_p": "p.Ser66*",
"transcript": "NM_001283026.2",
"protein_id": "NP_001269955.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 204,
"cds_start": 197,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001283026.2"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPB",
"gene_hgnc_id": 15751,
"hgvs_c": "c.224C>A",
"hgvs_p": "p.Ser75*",
"transcript": "XM_047440357.1",
"protein_id": "XP_047296313.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 213,
"cds_start": 224,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440357.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPB",
"gene_hgnc_id": 15751,
"hgvs_c": "c.224C>A",
"hgvs_p": "p.Ser75*",
"transcript": "XM_047440358.1",
"protein_id": "XP_047296314.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 213,
"cds_start": 224,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440358.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPB",
"gene_hgnc_id": 15751,
"hgvs_c": "c.197C>A",
"hgvs_p": "p.Ser66*",
"transcript": "XM_047440359.1",
"protein_id": "XP_047296315.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 204,
"cds_start": 197,
"cds_end": null,
"cds_length": 615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440359.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NAPB",
"gene_hgnc_id": 15751,
"hgvs_c": "c.155-3C>A",
"hgvs_p": null,
"transcript": "ENST00000963022.1",
"protein_id": "ENSP00000633081.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 189,
"cds_start": null,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963022.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPB",
"gene_hgnc_id": 15751,
"hgvs_c": "n.502C>A",
"hgvs_p": null,
"transcript": "ENST00000468128.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000468128.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPB",
"gene_hgnc_id": 15751,
"hgvs_c": "n.327C>A",
"hgvs_p": null,
"transcript": "ENST00000472855.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000472855.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAPB",
"gene_hgnc_id": 15751,
"hgvs_c": "n.512C>A",
"hgvs_p": null,
"transcript": "NR_104266.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104266.2"
}
],
"gene_symbol": "NAPB",
"gene_hgnc_id": 15751,
"dbsnp": "rs876661300",
"frequency_reference_population": 6.841836e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84184e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6499999761581421,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.65,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "NM_001283018.2",
"gene_symbol": "NAPB",
"hgnc_id": 15751,
"effects": [
"stop_gained",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.491C>A",
"hgvs_p": "p.Ser164*"
}
],
"clinvar_disease": "Developmental and epileptic encephalopathy-107",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Developmental and epileptic encephalopathy-107",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}