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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: 4-70480984-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=70480984&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 70480984,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000304887.6",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC7",
"gene_hgnc_id": 7518,
"hgvs_c": "c.240C>A",
"hgvs_p": "p.Asn80Lys",
"transcript": "NM_152291.3",
"protein_id": "NP_689504.2",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 377,
"cds_start": 240,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": "ENST00000304887.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC7",
"gene_hgnc_id": 7518,
"hgvs_c": "c.240C>A",
"hgvs_p": "p.Asn80Lys",
"transcript": "ENST00000304887.6",
"protein_id": "ENSP00000302021.5",
"transcript_support_level": 1,
"aa_start": 80,
"aa_end": null,
"aa_length": 377,
"cds_start": 240,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": "NM_152291.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC7",
"gene_hgnc_id": 7518,
"hgvs_c": "n.534C>A",
"hgvs_p": null,
"transcript": "ENST00000504482.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC7",
"gene_hgnc_id": 7518,
"hgvs_c": "c.240C>A",
"hgvs_p": "p.Asn80Lys",
"transcript": "NM_001145006.2",
"protein_id": "NP_001138478.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 377,
"cds_start": 240,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC7",
"gene_hgnc_id": 7518,
"hgvs_c": "c.240C>A",
"hgvs_p": "p.Asn80Lys",
"transcript": "NM_001145007.2",
"protein_id": "NP_001138479.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 377,
"cds_start": 240,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC7",
"gene_hgnc_id": 7518,
"hgvs_c": "c.240C>A",
"hgvs_p": "p.Asn80Lys",
"transcript": "ENST00000413702.5",
"protein_id": "ENSP00000407422.1",
"transcript_support_level": 4,
"aa_start": 80,
"aa_end": null,
"aa_length": 377,
"cds_start": 240,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 528,
"cdna_end": null,
"cdna_length": 2540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC7",
"gene_hgnc_id": 7518,
"hgvs_c": "c.240C>A",
"hgvs_p": "p.Asn80Lys",
"transcript": "ENST00000456088.5",
"protein_id": "ENSP00000400585.1",
"transcript_support_level": 4,
"aa_start": 80,
"aa_end": null,
"aa_length": 377,
"cds_start": 240,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 2479,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC7",
"gene_hgnc_id": 7518,
"hgvs_c": "c.240C>A",
"hgvs_p": "p.Asn80Lys",
"transcript": "ENST00000505411.5",
"protein_id": "ENSP00000427594.1",
"transcript_support_level": 4,
"aa_start": 80,
"aa_end": null,
"aa_length": 135,
"cds_start": 240,
"cds_end": null,
"cds_length": 408,
"cdna_start": 467,
"cdna_end": null,
"cdna_length": 635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC7",
"gene_hgnc_id": 7518,
"hgvs_c": "c.240C>A",
"hgvs_p": "p.Asn80Lys",
"transcript": "XM_047415723.1",
"protein_id": "XP_047271679.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 377,
"cds_start": 240,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MUC7",
"gene_hgnc_id": 7518,
"hgvs_c": "n.281C>A",
"hgvs_p": null,
"transcript": "ENST00000514512.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MUC7",
"gene_hgnc_id": 7518,
"dbsnp": "rs6826961",
"frequency_reference_population": 0.0000013682062,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136821,
"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": 0.06060606241226196,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.142,
"revel_prediction": "Benign",
"alphamissense_score": 0.2019,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.884,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000304887.6",
"gene_symbol": "MUC7",
"hgnc_id": 7518,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.240C>A",
"hgvs_p": "p.Asn80Lys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}