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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: 5-139848069-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=139848069&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 139848069,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_013982.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG2",
"gene_hgnc_id": 7998,
"hgvs_c": "c.2401G>A",
"hgvs_p": "p.Ala801Thr",
"transcript": "NM_004883.3",
"protein_id": "NP_004874.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 850,
"cds_start": 2401,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361474.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004883.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG2",
"gene_hgnc_id": 7998,
"hgvs_c": "c.2401G>A",
"hgvs_p": "p.Ala801Thr",
"transcript": "ENST00000361474.6",
"protein_id": "ENSP00000354910.1",
"transcript_support_level": 1,
"aa_start": 801,
"aa_end": null,
"aa_length": 850,
"cds_start": 2401,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004883.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361474.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG2",
"gene_hgnc_id": 7998,
"hgvs_c": "c.2407G>A",
"hgvs_p": "p.Ala803Thr",
"transcript": "ENST00000358522.7",
"protein_id": "ENSP00000351323.3",
"transcript_support_level": 1,
"aa_start": 803,
"aa_end": null,
"aa_length": 852,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358522.7"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG2",
"gene_hgnc_id": 7998,
"hgvs_c": "c.2425G>A",
"hgvs_p": "p.Ala809Thr",
"transcript": "NM_013982.3",
"protein_id": "NP_053585.1",
"transcript_support_level": null,
"aa_start": 809,
"aa_end": null,
"aa_length": 858,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013982.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG2",
"gene_hgnc_id": 7998,
"hgvs_c": "c.2425G>A",
"hgvs_p": "p.Ala809Thr",
"transcript": "ENST00000289422.11",
"protein_id": "ENSP00000289422.7",
"transcript_support_level": 5,
"aa_start": 809,
"aa_end": null,
"aa_length": 858,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000289422.11"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG2",
"gene_hgnc_id": 7998,
"hgvs_c": "c.2407G>A",
"hgvs_p": "p.Ala803Thr",
"transcript": "NM_013983.3",
"protein_id": "NP_053586.1",
"transcript_support_level": null,
"aa_start": 803,
"aa_end": null,
"aa_length": 852,
"cds_start": 2407,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013983.3"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG2",
"gene_hgnc_id": 7998,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Ala795Thr",
"transcript": "NM_013981.4",
"protein_id": "NP_053584.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 844,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013981.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG2",
"gene_hgnc_id": 7998,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Ala795Thr",
"transcript": "ENST00000289409.8",
"protein_id": "ENSP00000289409.4",
"transcript_support_level": 5,
"aa_start": 795,
"aa_end": null,
"aa_length": 844,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000289409.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG2",
"gene_hgnc_id": 7998,
"hgvs_c": "c.2227G>A",
"hgvs_p": "p.Ala743Thr",
"transcript": "ENST00000956720.1",
"protein_id": "ENSP00000626779.1",
"transcript_support_level": null,
"aa_start": 743,
"aa_end": null,
"aa_length": 792,
"cds_start": 2227,
"cds_end": null,
"cds_length": 2379,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956720.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG2",
"gene_hgnc_id": 7998,
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Ala735Thr",
"transcript": "NM_001184935.2",
"protein_id": "NP_001171864.1",
"transcript_support_level": null,
"aa_start": 735,
"aa_end": null,
"aa_length": 784,
"cds_start": 2203,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184935.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG2",
"gene_hgnc_id": 7998,
"hgvs_c": "c.2203G>A",
"hgvs_p": "p.Ala735Thr",
"transcript": "ENST00000541337.5",
"protein_id": "ENSP00000444235.1",
"transcript_support_level": 5,
"aa_start": 735,
"aa_end": null,
"aa_length": 784,
"cds_start": 2203,
"cds_end": null,
"cds_length": 2355,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541337.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG2",
"gene_hgnc_id": 7998,
"hgvs_c": "c.1792G>A",
"hgvs_p": "p.Ala598Thr",
"transcript": "NM_001410780.1",
"protein_id": "NP_001397709.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 647,
"cds_start": 1792,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410780.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG2",
"gene_hgnc_id": 7998,
"hgvs_c": "c.1792G>A",
"hgvs_p": "p.Ala598Thr",
"transcript": "ENST00000340391.8",
"protein_id": "ENSP00000342660.3",
"transcript_support_level": 5,
"aa_start": 598,
"aa_end": null,
"aa_length": 647,
"cds_start": 1792,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340391.8"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG2",
"gene_hgnc_id": 7998,
"hgvs_c": "c.1252G>A",
"hgvs_p": "p.Ala418Thr",
"transcript": "XM_047417897.1",
"protein_id": "XP_047273853.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 467,
"cds_start": 1252,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417897.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG2",
"gene_hgnc_id": 7998,
"hgvs_c": "c.1228G>A",
"hgvs_p": "p.Ala410Thr",
"transcript": "XM_005268533.5",
"protein_id": "XP_005268590.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 459,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005268533.5"
},
{
"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": "ENSG00000250692",
"gene_hgnc_id": null,
"hgvs_c": "n.-221C>T",
"hgvs_p": null,
"transcript": "ENST00000504413.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000504413.1"
}
],
"gene_symbol": "NRG2",
"gene_hgnc_id": 7998,
"dbsnp": "rs201901386",
"frequency_reference_population": 7.421668e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.42167e-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": 0.27494776248931885,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.121,
"revel_prediction": "Benign",
"alphamissense_score": 0.0745,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.169,
"phylop100way_prediction": "Benign",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_013982.3",
"gene_symbol": "NRG2",
"hgnc_id": 7998,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2425G>A",
"hgvs_p": "p.Ala809Thr"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000504413.1",
"gene_symbol": "ENSG00000250692",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-221C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}