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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: 5-74773973-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=74773973&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 74773973,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014886.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSA2",
"gene_hgnc_id": 30728,
"hgvs_c": "c.628A>C",
"hgvs_p": "p.Thr210Pro",
"transcript": "NM_014886.6",
"protein_id": "NP_055701.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 260,
"cds_start": 628,
"cds_end": null,
"cds_length": 783,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 4337,
"mane_select": "ENST00000610426.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014886.6"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSA2",
"gene_hgnc_id": 30728,
"hgvs_c": "c.628A>C",
"hgvs_p": "p.Thr210Pro",
"transcript": "ENST00000610426.5",
"protein_id": "ENSP00000483484.1",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 260,
"cds_start": 628,
"cds_end": null,
"cds_length": 783,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 4337,
"mane_select": "NM_014886.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610426.5"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSA2",
"gene_hgnc_id": 30728,
"hgvs_c": "c.622A>C",
"hgvs_p": "p.Thr208Pro",
"transcript": "ENST00000921903.1",
"protein_id": "ENSP00000591962.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 258,
"cds_start": 622,
"cds_end": null,
"cds_length": 777,
"cdna_start": 776,
"cdna_end": null,
"cdna_length": 2361,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921903.1"
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSA2",
"gene_hgnc_id": 30728,
"hgvs_c": "c.628A>C",
"hgvs_p": "p.Thr210Pro",
"transcript": "ENST00000854645.1",
"protein_id": "ENSP00000524704.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 238,
"cds_start": 628,
"cds_end": null,
"cds_length": 717,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 973,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854645.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NSA2",
"gene_hgnc_id": 30728,
"hgvs_c": "c.523-2631A>C",
"hgvs_p": null,
"transcript": "NM_001271665.2",
"protein_id": "NP_001258594.1",
"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": 4144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271665.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "NSA2",
"gene_hgnc_id": 30728,
"hgvs_c": "c.523-2631A>C",
"hgvs_p": null,
"transcript": "ENST00000296802.9",
"protein_id": "ENSP00000296802.6",
"transcript_support_level": 5,
"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": 1199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296802.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NSA2",
"gene_hgnc_id": 30728,
"hgvs_c": "c.247-2631A>C",
"hgvs_p": null,
"transcript": "ENST00000515524.1",
"protein_id": "ENSP00000427266.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 97,
"cds_start": null,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000515524.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSA2",
"gene_hgnc_id": 30728,
"hgvs_c": "n.849A>C",
"hgvs_p": null,
"transcript": "NR_073403.2",
"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": 4446,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_073403.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSA2",
"gene_hgnc_id": 30728,
"hgvs_c": "n.847A>C",
"hgvs_p": null,
"transcript": "NR_157205.2",
"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": 4444,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_157205.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSA2",
"gene_hgnc_id": 30728,
"hgvs_c": "n.589A>C",
"hgvs_p": null,
"transcript": "NR_157206.2",
"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": 4186,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_157206.2"
}
],
"gene_symbol": "NSA2",
"gene_hgnc_id": 30728,
"dbsnp": "rs767729492",
"frequency_reference_population": 0.000001368238,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136824,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3698684573173523,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.224,
"revel_prediction": "Benign",
"alphamissense_score": 0.8468,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.427,
"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_014886.6",
"gene_symbol": "NSA2",
"hgnc_id": 30728,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.628A>C",
"hgvs_p": "p.Thr210Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}