← Back to variant description
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: 7-107210554-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=107210554&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 107210554,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000297135.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG5",
"gene_hgnc_id": 14857,
"hgvs_c": "c.2347T>A",
"hgvs_p": "p.Ser783Thr",
"transcript": "NM_006348.5",
"protein_id": "NP_006339.4",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 829,
"cds_start": 2347,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 4658,
"mane_select": "ENST00000297135.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG5",
"gene_hgnc_id": 14857,
"hgvs_c": "c.2347T>A",
"hgvs_p": "p.Ser783Thr",
"transcript": "ENST00000297135.9",
"protein_id": "ENSP00000297135.4",
"transcript_support_level": 1,
"aa_start": 783,
"aa_end": null,
"aa_length": 829,
"cds_start": 2347,
"cds_end": null,
"cds_length": 2490,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 4658,
"mane_select": "NM_006348.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG5",
"gene_hgnc_id": 14857,
"hgvs_c": "c.2284T>A",
"hgvs_p": "p.Ser762Thr",
"transcript": "ENST00000347053.8",
"protein_id": "ENSP00000334703.3",
"transcript_support_level": 1,
"aa_start": 762,
"aa_end": null,
"aa_length": 808,
"cds_start": 2284,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2428,
"cdna_end": null,
"cdna_length": 4532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG5",
"gene_hgnc_id": 14857,
"hgvs_c": "c.2347T>A",
"hgvs_p": "p.Ser783Thr",
"transcript": "ENST00000393603.7",
"protein_id": "ENSP00000377228.3",
"transcript_support_level": 1,
"aa_start": 783,
"aa_end": null,
"aa_length": 792,
"cds_start": 2347,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2712,
"cdna_end": null,
"cdna_length": 5418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG5",
"gene_hgnc_id": 14857,
"hgvs_c": "c.2284T>A",
"hgvs_p": "p.Ser762Thr",
"transcript": "NM_181733.4",
"protein_id": "NP_859422.3",
"transcript_support_level": null,
"aa_start": 762,
"aa_end": null,
"aa_length": 808,
"cds_start": 2284,
"cds_end": null,
"cds_length": 2427,
"cdna_start": 2308,
"cdna_end": null,
"cdna_length": 4595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG5",
"gene_hgnc_id": 14857,
"hgvs_c": "c.2347T>A",
"hgvs_p": "p.Ser783Thr",
"transcript": "NM_001161520.2",
"protein_id": "NP_001154992.2",
"transcript_support_level": null,
"aa_start": 783,
"aa_end": null,
"aa_length": 792,
"cds_start": 2347,
"cds_end": null,
"cds_length": 2379,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 6290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG5",
"gene_hgnc_id": 14857,
"hgvs_c": "c.2185T>A",
"hgvs_p": "p.Ser729Thr",
"transcript": "NM_001379511.1",
"protein_id": "NP_001366440.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 775,
"cds_start": 2185,
"cds_end": null,
"cds_length": 2328,
"cdna_start": 2209,
"cdna_end": null,
"cdna_length": 4496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG5",
"gene_hgnc_id": 14857,
"hgvs_c": "c.2173T>A",
"hgvs_p": "p.Ser725Thr",
"transcript": "NM_001379512.1",
"protein_id": "NP_001366441.1",
"transcript_support_level": null,
"aa_start": 725,
"aa_end": null,
"aa_length": 771,
"cds_start": 2173,
"cds_end": null,
"cds_length": 2316,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 4484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG5",
"gene_hgnc_id": 14857,
"hgvs_c": "c.2032T>A",
"hgvs_p": "p.Ser678Thr",
"transcript": "NM_001379514.1",
"protein_id": "NP_001366443.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 724,
"cds_start": 2032,
"cds_end": null,
"cds_length": 2175,
"cdna_start": 2056,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG5",
"gene_hgnc_id": 14857,
"hgvs_c": "c.1777T>A",
"hgvs_p": "p.Ser593Thr",
"transcript": "NM_001379515.1",
"protein_id": "NP_001366444.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 639,
"cds_start": 1777,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1801,
"cdna_end": null,
"cdna_length": 4088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG5",
"gene_hgnc_id": 14857,
"hgvs_c": "c.1633T>A",
"hgvs_p": "p.Ser545Thr",
"transcript": "NM_001379516.1",
"protein_id": "NP_001366445.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 591,
"cds_start": 1633,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 1657,
"cdna_end": null,
"cdna_length": 3944,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "COG5",
"gene_hgnc_id": 14857,
"hgvs_c": "n.798T>A",
"hgvs_p": null,
"transcript": "ENST00000464542.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "COG5",
"gene_hgnc_id": 14857,
"hgvs_c": "c.2169-6924T>A",
"hgvs_p": null,
"transcript": "NM_001379513.1",
"protein_id": "NP_001366442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 760,
"cds_start": -4,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "COG5",
"gene_hgnc_id": 14857,
"dbsnp": "rs773449359",
"frequency_reference_population": 0.0000065684035,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0.0000065684,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1600305736064911,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.042,
"revel_prediction": "Benign",
"alphamissense_score": 0.0848,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.795,
"phylop100way_prediction": "Uncertain_significance",
"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": "ENST00000297135.9",
"gene_symbol": "COG5",
"hgnc_id": 14857,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2347T>A",
"hgvs_p": "p.Ser783Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}