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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-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=23390028&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "NAPB",
"hgnc_id": 15751,
"hgvs_c": "c.491C>T",
"hgvs_p": "p.Ser164Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001283018.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.4035,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.03,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.40938544273376465,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 298,
"aa_ref": "S",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3837,
"cdna_start": 565,
"cds_end": null,
"cds_length": 897,
"cds_start": 479,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_022080.3",
"gene_hgnc_id": 15751,
"gene_symbol": "NAPB",
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377026.4",
"protein_coding": true,
"protein_id": "NP_071363.1",
"strand": false,
"transcript": "NM_022080.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 298,
"aa_ref": "S",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3837,
"cdna_start": 565,
"cds_end": null,
"cds_length": 897,
"cds_start": 479,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000377026.4",
"gene_hgnc_id": 15751,
"gene_symbol": "NAPB",
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022080.3",
"protein_coding": true,
"protein_id": "ENSP00000366225.4",
"strand": false,
"transcript": "ENST00000377026.4",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3824,
"cdna_start": 549,
"cds_end": null,
"cds_length": 615,
"cds_start": 197,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000398425.7",
"gene_hgnc_id": 15751,
"gene_symbol": "NAPB",
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Ser66Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381459.3",
"strand": false,
"transcript": "ENST00000398425.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 302,
"aa_ref": "S",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3849,
"cdna_start": 577,
"cds_end": null,
"cds_length": 909,
"cds_start": 491,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001283018.2",
"gene_hgnc_id": 15751,
"gene_symbol": "NAPB",
"hgvs_c": "c.491C>T",
"hgvs_p": "p.Ser164Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269947.1",
"strand": false,
"transcript": "NM_001283018.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 302,
"aa_ref": "S",
"aa_start": 164,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3883,
"cdna_start": 608,
"cds_end": null,
"cds_length": 909,
"cds_start": 491,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000617876.4",
"gene_hgnc_id": 15751,
"gene_symbol": "NAPB",
"hgvs_c": "c.491C>T",
"hgvs_p": "p.Ser164Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482826.1",
"strand": false,
"transcript": "ENST00000617876.4",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 296,
"aa_ref": "S",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3810,
"cdna_start": 538,
"cds_end": null,
"cds_length": 891,
"cds_start": 473,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000856933.1",
"gene_hgnc_id": 15751,
"gene_symbol": "NAPB",
"hgvs_c": "c.473C>T",
"hgvs_p": "p.Ser158Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526992.1",
"strand": false,
"transcript": "ENST00000856933.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 281,
"aa_ref": "S",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3764,
"cdna_start": 550,
"cds_end": null,
"cds_length": 846,
"cds_start": 479,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000963019.1",
"gene_hgnc_id": 15751,
"gene_symbol": "NAPB",
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633078.1",
"strand": false,
"transcript": "ENST00000963019.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 263,
"aa_ref": "S",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3710,
"cdna_start": 550,
"cds_end": null,
"cds_length": 792,
"cds_start": 479,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000963020.1",
"gene_hgnc_id": 15751,
"gene_symbol": "NAPB",
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633079.1",
"strand": false,
"transcript": "ENST00000963020.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 259,
"aa_ref": "S",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3720,
"cdna_start": 448,
"cds_end": null,
"cds_length": 780,
"cds_start": 362,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001283020.2",
"gene_hgnc_id": 15751,
"gene_symbol": "NAPB",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Ser121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269949.1",
"strand": false,
"transcript": "NM_001283020.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 259,
"aa_ref": "S",
"aa_start": 121,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3754,
"cdna_start": 479,
"cds_end": null,
"cds_length": 780,
"cds_start": 362,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000432543.6",
"gene_hgnc_id": 15751,
"gene_symbol": "NAPB",
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Ser121Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413600.2",
"strand": false,
"transcript": "ENST00000432543.6",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 258,
"aa_ref": "S",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3723,
"cdna_start": 571,
"cds_end": null,
"cds_length": 777,
"cds_start": 479,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000856932.1",
"gene_hgnc_id": 15751,
"gene_symbol": "NAPB",
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526991.1",
"strand": false,
"transcript": "ENST00000856932.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 223,
"aa_ref": "S",
"aa_start": 160,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3586,
"cdna_start": 546,
"cds_end": null,
"cds_length": 672,
"cds_start": 479,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000963021.1",
"gene_hgnc_id": 15751,
"gene_symbol": "NAPB",
"hgvs_c": "c.479C>T",
"hgvs_p": "p.Ser160Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633080.1",
"strand": false,
"transcript": "ENST00000963021.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3790,
"cdna_start": 518,
"cds_end": null,
"cds_length": 615,
"cds_start": 197,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001283026.2",
"gene_hgnc_id": 15751,
"gene_symbol": "NAPB",
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Ser66Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269955.1",
"strand": false,
"transcript": "NM_001283026.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 213,
"aa_ref": "S",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3810,
"cdna_start": 538,
"cds_end": null,
"cds_length": 642,
"cds_start": 224,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047440357.1",
"gene_hgnc_id": 15751,
"gene_symbol": "NAPB",
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296313.1",
"strand": false,
"transcript": "XM_047440357.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 213,
"aa_ref": "S",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3607,
"cdna_start": 335,
"cds_end": null,
"cds_length": 642,
"cds_start": 224,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047440358.1",
"gene_hgnc_id": 15751,
"gene_symbol": "NAPB",
"hgvs_c": "c.224C>T",
"hgvs_p": "p.Ser75Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296314.1",
"strand": false,
"transcript": "XM_047440358.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3538,
"cdna_start": 266,
"cds_end": null,
"cds_length": 615,
"cds_start": 197,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047440359.1",
"gene_hgnc_id": 15751,
"gene_symbol": "NAPB",
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Ser66Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047296315.1",
"strand": false,
"transcript": "XM_047440359.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 189,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3422,
"cdna_start": null,
"cds_end": null,
"cds_length": 570,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963022.1",
"gene_hgnc_id": 15751,
"gene_symbol": "NAPB",
"hgvs_c": "c.155-3C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633081.1",
"strand": false,
"transcript": "ENST00000963022.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 782,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000468128.5",
"gene_hgnc_id": 15751,
"gene_symbol": "NAPB",
"hgvs_c": "n.502C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000468128.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1651,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000472855.5",
"gene_hgnc_id": 15751,
"gene_symbol": "NAPB",
"hgvs_c": "n.327C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000472855.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3364,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NR_104266.2",
"gene_hgnc_id": 15751,
"gene_symbol": "NAPB",
"hgvs_c": "n.512C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_104266.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs876661300",
"effect": "missense_variant,splice_region_variant",
"frequency_reference_population": 6.841836e-7,
"gene_hgnc_id": 15751,
"gene_symbol": "NAPB",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.84184e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"pos": 23390028,
"ref": "G",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.36,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001283018.2"
}
]
}