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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: 8-16155085-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=16155085&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 16155085,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000262101.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSR1",
"gene_hgnc_id": 7376,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "NM_138715.3",
"protein_id": "NP_619729.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 451,
"cds_start": 877,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 3618,
"mane_select": "ENST00000262101.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSR1",
"gene_hgnc_id": 7376,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "ENST00000262101.10",
"protein_id": "ENSP00000262101.5",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 451,
"cds_start": 877,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 3618,
"mane_select": "NM_138715.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSR1",
"gene_hgnc_id": 7376,
"hgvs_c": "c.931C>G",
"hgvs_p": "p.Arg311Gly",
"transcript": "ENST00000445506.6",
"protein_id": "ENSP00000405453.2",
"transcript_support_level": 1,
"aa_start": 311,
"aa_end": null,
"aa_length": 469,
"cds_start": 931,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 1513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSR1",
"gene_hgnc_id": 7376,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "ENST00000355282.6",
"protein_id": "ENSP00000347430.2",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 388,
"cds_start": 877,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 1167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSR1",
"gene_hgnc_id": 7376,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "ENST00000381998.8",
"protein_id": "ENSP00000371428.4",
"transcript_support_level": 1,
"aa_start": 293,
"aa_end": null,
"aa_length": 358,
"cds_start": 877,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSR1",
"gene_hgnc_id": 7376,
"hgvs_c": "c.931C>G",
"hgvs_p": "p.Arg311Gly",
"transcript": "NM_001363744.1",
"protein_id": "NP_001350673.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 469,
"cds_start": 931,
"cds_end": null,
"cds_length": 1410,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 3678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSR1",
"gene_hgnc_id": 7376,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "NM_138716.3",
"protein_id": "NP_619730.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 388,
"cds_start": 877,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 3429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSR1",
"gene_hgnc_id": 7376,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "ENST00000350896.3",
"protein_id": "ENSP00000262100.3",
"transcript_support_level": 5,
"aa_start": 293,
"aa_end": null,
"aa_length": 388,
"cds_start": 877,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1075,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSR1",
"gene_hgnc_id": 7376,
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly",
"transcript": "NM_002445.4",
"protein_id": "NP_002436.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 358,
"cds_start": 877,
"cds_end": null,
"cds_length": 1077,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSR1",
"gene_hgnc_id": 7376,
"hgvs_c": "c.247C>G",
"hgvs_p": "p.Arg83Gly",
"transcript": "ENST00000522672.5",
"protein_id": "ENSP00000430536.1",
"transcript_support_level": 3,
"aa_start": 83,
"aa_end": null,
"aa_length": 149,
"cds_start": 247,
"cds_end": null,
"cds_length": 450,
"cdna_start": 247,
"cdna_end": null,
"cdna_length": 695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSR1",
"gene_hgnc_id": 7376,
"hgvs_c": "c.931C>G",
"hgvs_p": "p.Arg311Gly",
"transcript": "XM_024447161.2",
"protein_id": "XP_024302929.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 376,
"cds_start": 931,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 2880,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSR1",
"gene_hgnc_id": 7376,
"hgvs_c": "n.*236C>G",
"hgvs_p": null,
"transcript": "ENST00000519060.6",
"protein_id": "ENSP00000428865.1",
"transcript_support_level": 5,
"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": 1009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSR1",
"gene_hgnc_id": 7376,
"hgvs_c": "n.*236C>G",
"hgvs_p": null,
"transcript": "ENST00000519060.6",
"protein_id": "ENSP00000428865.1",
"transcript_support_level": 5,
"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": 1009,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MSR1",
"gene_hgnc_id": 7376,
"dbsnp": "rs41341748",
"frequency_reference_population": 0.000011167555,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.00000753436,
"gnomad_genomes_af": 0.000046103,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.20491880178451538,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.219,
"revel_prediction": "Benign",
"alphamissense_score": 0.1592,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.218,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000262101.10",
"gene_symbol": "MSR1",
"hgnc_id": 7376,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.877C>G",
"hgvs_p": "p.Arg293Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}