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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: 12-56229158-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56229158&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56229158,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_024068.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Pro194Leu",
"transcript": "NM_024068.4",
"protein_id": "NP_076973.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 211,
"cds_start": 581,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000267023.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024068.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Pro194Leu",
"transcript": "ENST00000267023.9",
"protein_id": "ENSP00000267023.4",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 211,
"cds_start": 581,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024068.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267023.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Pro194Leu",
"transcript": "ENST00000380198.6",
"protein_id": "ENSP00000369545.2",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 211,
"cds_start": 581,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380198.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Pro194Leu",
"transcript": "ENST00000341463.5",
"protein_id": "ENSP00000368862.3",
"transcript_support_level": 3,
"aa_start": 194,
"aa_end": null,
"aa_length": 211,
"cds_start": 581,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341463.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Pro194Leu",
"transcript": "ENST00000882054.1",
"protein_id": "ENSP00000552113.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 211,
"cds_start": 581,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882054.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Pro194Leu",
"transcript": "ENST00000882055.1",
"protein_id": "ENSP00000552114.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 211,
"cds_start": 581,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882055.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Pro194Leu",
"transcript": "ENST00000934237.1",
"protein_id": "ENSP00000604296.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 211,
"cds_start": 581,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934237.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Pro194Leu",
"transcript": "ENST00000934238.1",
"protein_id": "ENSP00000604297.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 211,
"cds_start": 581,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934238.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Pro194Leu",
"transcript": "ENST00000934241.1",
"protein_id": "ENSP00000604300.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 211,
"cds_start": 581,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934241.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Pro194Leu",
"transcript": "ENST00000959362.1",
"protein_id": "ENSP00000629421.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 211,
"cds_start": 581,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959362.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.575C>T",
"hgvs_p": "p.Pro192Leu",
"transcript": "ENST00000934239.1",
"protein_id": "ENSP00000604298.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 209,
"cds_start": 575,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934239.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Pro170Leu",
"transcript": "ENST00000934240.1",
"protein_id": "ENSP00000604299.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 187,
"cds_start": 509,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934240.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.509C>T",
"hgvs_p": "p.Pro170Leu",
"transcript": "ENST00000934242.1",
"protein_id": "ENSP00000604301.1",
"transcript_support_level": null,
"aa_start": 170,
"aa_end": null,
"aa_length": 187,
"cds_start": 509,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934242.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.656C>T",
"hgvs_p": "p.Pro219Leu",
"transcript": "XM_047429531.1",
"protein_id": "XP_047285487.1",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 236,
"cds_start": 656,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429531.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "XM_005269147.4",
"protein_id": "XP_005269204.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 227,
"cds_start": 629,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269147.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Pro194Leu",
"transcript": "XM_005269149.6",
"protein_id": "XP_005269206.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 211,
"cds_start": 581,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269149.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Pro194Leu",
"transcript": "XM_047429532.1",
"protein_id": "XP_047285488.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 211,
"cds_start": 581,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429532.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Pro194Leu",
"transcript": "XM_047429533.1",
"protein_id": "XP_047285489.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 211,
"cds_start": 581,
"cds_end": null,
"cds_length": 636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429533.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"hgvs_c": "c.*126C>T",
"hgvs_p": null,
"transcript": "ENST00000399713.6",
"protein_id": "ENSP00000408616.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 150,
"cds_start": null,
"cds_end": null,
"cds_length": 455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399713.6"
}
],
"gene_symbol": "NABP2",
"gene_hgnc_id": 28412,
"dbsnp": "rs1326645972",
"frequency_reference_population": 0.0000062012964,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000547592,
"gnomad_genomes_af": 0.0000131905,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0973023772239685,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.049,
"revel_prediction": "Benign",
"alphamissense_score": 0.0748,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.598,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_024068.4",
"gene_symbol": "NABP2",
"hgnc_id": 28412,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.581C>T",
"hgvs_p": "p.Pro194Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}