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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: 7-100773850-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100773850&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100773850,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000613979.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZAN",
"gene_hgnc_id": 12857,
"hgvs_c": "c.5764C>T",
"hgvs_p": "p.His1922Tyr",
"transcript": "NM_003386.3",
"protein_id": "NP_003377.2",
"transcript_support_level": null,
"aa_start": 1922,
"aa_end": null,
"aa_length": 2812,
"cds_start": 5764,
"cds_end": null,
"cds_length": 8439,
"cdna_start": 5960,
"cdna_end": null,
"cdna_length": 8700,
"mane_select": "ENST00000613979.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZAN",
"gene_hgnc_id": 12857,
"hgvs_c": "c.5764C>T",
"hgvs_p": "p.His1922Tyr",
"transcript": "ENST00000613979.5",
"protein_id": "ENSP00000480750.1",
"transcript_support_level": 1,
"aa_start": 1922,
"aa_end": null,
"aa_length": 2812,
"cds_start": 5764,
"cds_end": null,
"cds_length": 8439,
"cdna_start": 5960,
"cdna_end": null,
"cdna_length": 8700,
"mane_select": "NM_003386.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZAN",
"gene_hgnc_id": 12857,
"hgvs_c": "c.5764C>T",
"hgvs_p": "p.His1922Tyr",
"transcript": "ENST00000620596.4",
"protein_id": "ENSP00000481742.1",
"transcript_support_level": 1,
"aa_start": 1922,
"aa_end": null,
"aa_length": 2721,
"cds_start": 5764,
"cds_end": null,
"cds_length": 8166,
"cdna_start": 5929,
"cdna_end": null,
"cdna_length": 8396,
"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": 31,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZAN",
"gene_hgnc_id": 12857,
"hgvs_c": "n.5764C>T",
"hgvs_p": null,
"transcript": "ENST00000538115.5",
"protein_id": "ENSP00000445091.2",
"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": 8535,
"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": 31,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZAN",
"gene_hgnc_id": 12857,
"hgvs_c": "n.5764C>T",
"hgvs_p": null,
"transcript": "ENST00000542585.5",
"protein_id": "ENSP00000444427.2",
"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": 8734,
"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": 31,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZAN",
"gene_hgnc_id": 12857,
"hgvs_c": "n.5764C>T",
"hgvs_p": null,
"transcript": "ENST00000546213.5",
"protein_id": "ENSP00000441117.2",
"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": 8470,
"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": 31,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZAN",
"gene_hgnc_id": 12857,
"hgvs_c": "n.5929C>T",
"hgvs_p": null,
"transcript": "ENST00000620868.4",
"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": 8835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZAN",
"gene_hgnc_id": 12857,
"hgvs_c": "c.5764C>T",
"hgvs_p": "p.His1922Tyr",
"transcript": "ENST00000618565.4",
"protein_id": "ENSP00000478371.1",
"transcript_support_level": 5,
"aa_start": 1922,
"aa_end": null,
"aa_length": 2812,
"cds_start": 5764,
"cds_end": null,
"cds_length": 8439,
"cdna_start": 5912,
"cdna_end": null,
"cdna_length": 8651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZAN",
"gene_hgnc_id": 12857,
"hgvs_c": "c.5764C>T",
"hgvs_p": "p.His1922Tyr",
"transcript": "NM_173059.3",
"protein_id": "NP_775082.2",
"transcript_support_level": null,
"aa_start": 1922,
"aa_end": null,
"aa_length": 2721,
"cds_start": 5764,
"cds_end": null,
"cds_length": 8166,
"cdna_start": 5960,
"cdna_end": null,
"cdna_length": 8427,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZAN",
"gene_hgnc_id": 12857,
"hgvs_c": "c.5764C>T",
"hgvs_p": "p.His1922Tyr",
"transcript": "ENST00000546292.2",
"protein_id": "ENSP00000445943.2",
"transcript_support_level": 5,
"aa_start": 1922,
"aa_end": null,
"aa_length": 2721,
"cds_start": 5764,
"cds_end": null,
"cds_length": 8166,
"cdna_start": 5912,
"cdna_end": null,
"cdna_length": 8378,
"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": 31,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZAN",
"gene_hgnc_id": 12857,
"hgvs_c": "n.5960C>T",
"hgvs_p": null,
"transcript": "NR_111917.2",
"protein_id": null,
"transcript_support_level": null,
"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": 8765,
"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": 31,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZAN",
"gene_hgnc_id": 12857,
"hgvs_c": "n.5960C>T",
"hgvs_p": null,
"transcript": "NR_111918.2",
"protein_id": null,
"transcript_support_level": null,
"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": 8566,
"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": 31,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZAN",
"gene_hgnc_id": 12857,
"hgvs_c": "n.5960C>T",
"hgvs_p": null,
"transcript": "NR_111919.2",
"protein_id": null,
"transcript_support_level": null,
"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": 8501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZAN",
"gene_hgnc_id": 12857,
"dbsnp": "rs314299",
"frequency_reference_population": 0.0000022562058,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 0.00000225621,
"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": 0.008918404579162598,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.158,
"revel_prediction": "Benign",
"alphamissense_score": 0.0937,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.828,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000613979.5",
"gene_symbol": "ZAN",
"hgnc_id": 12857,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5764C>T",
"hgvs_p": "p.His1922Tyr"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}