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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: 7-55964620-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=55964620&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 55964620,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001483.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPSNAP2",
"gene_hgnc_id": 4179,
"hgvs_c": "c.11G>A",
"hgvs_p": "p.Arg4Gln",
"transcript": "NM_001483.3",
"protein_id": "NP_001474.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 286,
"cds_start": 11,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000322090.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001483.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPSNAP2",
"gene_hgnc_id": 4179,
"hgvs_c": "c.11G>A",
"hgvs_p": "p.Arg4Gln",
"transcript": "ENST00000322090.8",
"protein_id": "ENSP00000313050.3",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 286,
"cds_start": 11,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001483.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000322090.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPSNAP2",
"gene_hgnc_id": 4179,
"hgvs_c": "c.11G>A",
"hgvs_p": "p.Arg4Gln",
"transcript": "ENST00000878201.1",
"protein_id": "ENSP00000548260.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 294,
"cds_start": 11,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878201.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPSNAP2",
"gene_hgnc_id": 4179,
"hgvs_c": "c.11G>A",
"hgvs_p": "p.Arg4Gln",
"transcript": "ENST00000878203.1",
"protein_id": "ENSP00000548262.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 293,
"cds_start": 11,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878203.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPSNAP2",
"gene_hgnc_id": 4179,
"hgvs_c": "c.11G>A",
"hgvs_p": "p.Arg4Gln",
"transcript": "ENST00000878202.1",
"protein_id": "ENSP00000548261.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 280,
"cds_start": 11,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878202.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPSNAP2",
"gene_hgnc_id": 4179,
"hgvs_c": "c.11G>A",
"hgvs_p": "p.Arg4Gln",
"transcript": "ENST00000878207.1",
"protein_id": "ENSP00000548266.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 279,
"cds_start": 11,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878207.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPSNAP2",
"gene_hgnc_id": 4179,
"hgvs_c": "c.11G>A",
"hgvs_p": "p.Arg4Gln",
"transcript": "ENST00000878205.1",
"protein_id": "ENSP00000548264.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 270,
"cds_start": 11,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878205.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPSNAP2",
"gene_hgnc_id": 4179,
"hgvs_c": "c.11G>A",
"hgvs_p": "p.Arg4Gln",
"transcript": "ENST00000878206.1",
"protein_id": "ENSP00000548265.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 258,
"cds_start": 11,
"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": "ENST00000878206.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPSNAP2",
"gene_hgnc_id": 4179,
"hgvs_c": "c.11G>A",
"hgvs_p": "p.Arg4Gln",
"transcript": "ENST00000942465.1",
"protein_id": "ENSP00000612524.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 254,
"cds_start": 11,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942465.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPSNAP2",
"gene_hgnc_id": 4179,
"hgvs_c": "c.11G>A",
"hgvs_p": "p.Arg4Gln",
"transcript": "NM_001202469.2",
"protein_id": "NP_001189398.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 247,
"cds_start": 11,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202469.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPSNAP2",
"gene_hgnc_id": 4179,
"hgvs_c": "c.11G>A",
"hgvs_p": "p.Arg4Gln",
"transcript": "ENST00000446778.5",
"protein_id": "ENSP00000406855.1",
"transcript_support_level": 2,
"aa_start": 4,
"aa_end": null,
"aa_length": 247,
"cds_start": 11,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446778.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPSNAP2",
"gene_hgnc_id": 4179,
"hgvs_c": "c.11G>A",
"hgvs_p": "p.Arg4Gln",
"transcript": "ENST00000942464.1",
"protein_id": "ENSP00000612523.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 240,
"cds_start": 11,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942464.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPSNAP2",
"gene_hgnc_id": 4179,
"hgvs_c": "c.11G>A",
"hgvs_p": "p.Arg4Gln",
"transcript": "ENST00000878200.1",
"protein_id": "ENSP00000548259.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 239,
"cds_start": 11,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878200.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPSNAP2",
"gene_hgnc_id": 4179,
"hgvs_c": "c.11G>A",
"hgvs_p": "p.Arg4Gln",
"transcript": "ENST00000878204.1",
"protein_id": "ENSP00000548263.1",
"transcript_support_level": null,
"aa_start": 4,
"aa_end": null,
"aa_length": 173,
"cds_start": 11,
"cds_end": null,
"cds_length": 522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878204.1"
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NIPSNAP2",
"gene_hgnc_id": 4179,
"hgvs_c": "c.-329+12690G>A",
"hgvs_p": null,
"transcript": "ENST00000446692.5",
"protein_id": "ENSP00000406336.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 64,
"cds_start": null,
"cds_end": null,
"cds_length": 196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446692.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPSNAP2",
"gene_hgnc_id": 4179,
"hgvs_c": "n.11G>A",
"hgvs_p": null,
"transcript": "ENST00000456204.5",
"protein_id": "ENSP00000398498.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000456204.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NIPSNAP2",
"gene_hgnc_id": 4179,
"hgvs_c": "n.26G>A",
"hgvs_p": null,
"transcript": "ENST00000470036.5",
"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": "retained_intron",
"feature": "ENST00000470036.5"
}
],
"gene_symbol": "NIPSNAP2",
"gene_hgnc_id": 4179,
"dbsnp": "rs1786850413",
"frequency_reference_population": 0.0000022221334,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000222213,
"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": 0.2504308223724365,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.093,
"revel_prediction": "Benign",
"alphamissense_score": 0.7514,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.917,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001483.3",
"gene_symbol": "NIPSNAP2",
"hgnc_id": 4179,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.11G>A",
"hgvs_p": "p.Arg4Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}