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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: 6-36722466-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=36722466&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 36722466,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001257357.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB44",
"gene_hgnc_id": 21068,
"hgvs_c": "c.2332T>C",
"hgvs_p": "p.Ser778Pro",
"transcript": "NM_001257357.2",
"protein_id": "NP_001244286.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2332,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000612677.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001257357.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB44",
"gene_hgnc_id": 21068,
"hgvs_c": "c.2332T>C",
"hgvs_p": "p.Ser778Pro",
"transcript": "ENST00000612677.6",
"protein_id": "ENSP00000481054.1",
"transcript_support_level": 5,
"aa_start": 778,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2332,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001257357.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612677.6"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB44",
"gene_hgnc_id": 21068,
"hgvs_c": "c.982T>C",
"hgvs_p": "p.Ser328Pro",
"transcript": "ENST00000957683.1",
"protein_id": "ENSP00000627742.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 571,
"cds_start": 982,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957683.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB44",
"gene_hgnc_id": 21068,
"hgvs_c": "c.2332T>C",
"hgvs_p": "p.Ser778Pro",
"transcript": "XM_024446435.2",
"protein_id": "XP_024302203.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2332,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446435.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB44",
"gene_hgnc_id": 21068,
"hgvs_c": "c.2332T>C",
"hgvs_p": "p.Ser778Pro",
"transcript": "XM_024446436.2",
"protein_id": "XP_024302204.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 1021,
"cds_start": 2332,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446436.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB44",
"gene_hgnc_id": 21068,
"hgvs_c": "c.2299T>C",
"hgvs_p": "p.Ser767Pro",
"transcript": "XM_024446437.2",
"protein_id": "XP_024302205.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 1010,
"cds_start": 2299,
"cds_end": null,
"cds_length": 3033,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446437.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB44",
"gene_hgnc_id": 21068,
"hgvs_c": "c.2332T>C",
"hgvs_p": "p.Ser778Pro",
"transcript": "XM_024446438.2",
"protein_id": "XP_024302206.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 953,
"cds_start": 2332,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446438.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB44",
"gene_hgnc_id": 21068,
"hgvs_c": "c.2332T>C",
"hgvs_p": "p.Ser778Pro",
"transcript": "XM_024446439.2",
"protein_id": "XP_024302207.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 948,
"cds_start": 2332,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446439.2"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB44",
"gene_hgnc_id": 21068,
"hgvs_c": "c.2332T>C",
"hgvs_p": "p.Ser778Pro",
"transcript": "XM_047418772.1",
"protein_id": "XP_047274728.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 884,
"cds_start": 2332,
"cds_end": null,
"cds_length": 2655,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418772.1"
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB44",
"gene_hgnc_id": 21068,
"hgvs_c": "c.2332T>C",
"hgvs_p": "p.Ser778Pro",
"transcript": "XM_024446441.2",
"protein_id": "XP_024302209.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 870,
"cds_start": 2332,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446441.2"
}
],
"gene_symbol": "RAB44",
"gene_hgnc_id": 21068,
"dbsnp": "rs534527709",
"frequency_reference_population": 0.0012208485,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1767,
"gnomad_exomes_af": 0.00123997,
"gnomad_genomes_af": 0.00105811,
"gnomad_exomes_ac": 1606,
"gnomad_genomes_ac": 161,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.004777252674102783,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": 0.0583,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.925,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001257357.2",
"gene_symbol": "RAB44",
"hgnc_id": 21068,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2332T>C",
"hgvs_p": "p.Ser778Pro"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}