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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: 6-30619733-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30619733&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30619733,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014046.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18B",
"gene_hgnc_id": 14516,
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71His",
"transcript": "NM_014046.4",
"protein_id": "NP_054765.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 258,
"cds_start": 212,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000259873.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014046.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18B",
"gene_hgnc_id": 14516,
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71His",
"transcript": "ENST00000259873.5",
"protein_id": "ENSP00000259873.4",
"transcript_support_level": 1,
"aa_start": 71,
"aa_end": null,
"aa_length": 258,
"cds_start": 212,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014046.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000259873.5"
},
{
"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": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18B",
"gene_hgnc_id": 14516,
"hgvs_c": "n.333G>A",
"hgvs_p": null,
"transcript": "ENST00000472267.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000472267.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18B",
"gene_hgnc_id": 14516,
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71His",
"transcript": "ENST00000854954.1",
"protein_id": "ENSP00000525013.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 257,
"cds_start": 212,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854954.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18B",
"gene_hgnc_id": 14516,
"hgvs_c": "c.206G>A",
"hgvs_p": "p.Arg69His",
"transcript": "ENST00000854953.1",
"protein_id": "ENSP00000525012.1",
"transcript_support_level": null,
"aa_start": 69,
"aa_end": null,
"aa_length": 256,
"cds_start": 206,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854953.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18B",
"gene_hgnc_id": 14516,
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71His",
"transcript": "ENST00000940252.1",
"protein_id": "ENSP00000610311.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 255,
"cds_start": 212,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940252.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18B",
"gene_hgnc_id": 14516,
"hgvs_c": "c.200G>A",
"hgvs_p": "p.Arg67His",
"transcript": "ENST00000940251.1",
"protein_id": "ENSP00000610310.1",
"transcript_support_level": null,
"aa_start": 67,
"aa_end": null,
"aa_length": 254,
"cds_start": 200,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940251.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18B",
"gene_hgnc_id": 14516,
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71His",
"transcript": "ENST00000854955.1",
"protein_id": "ENSP00000525014.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 249,
"cds_start": 212,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854955.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18B",
"gene_hgnc_id": 14516,
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71His",
"transcript": "ENST00000854951.1",
"protein_id": "ENSP00000525010.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 238,
"cds_start": 212,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854951.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18B",
"gene_hgnc_id": 14516,
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71His",
"transcript": "ENST00000854952.1",
"protein_id": "ENSP00000525011.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 235,
"cds_start": 212,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854952.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18B",
"gene_hgnc_id": 14516,
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71His",
"transcript": "ENST00000940253.1",
"protein_id": "ENSP00000610312.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 207,
"cds_start": 212,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940253.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18B",
"gene_hgnc_id": 14516,
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71His",
"transcript": "XM_024446408.2",
"protein_id": "XP_024302176.2",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 121,
"cds_start": 212,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446408.2"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18B",
"gene_hgnc_id": 14516,
"hgvs_c": "n.246G>A",
"hgvs_p": null,
"transcript": "ENST00000472229.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000472229.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MRPS18B",
"gene_hgnc_id": 14516,
"hgvs_c": "n.235G>A",
"hgvs_p": null,
"transcript": "ENST00000492316.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000492316.5"
}
],
"gene_symbol": "MRPS18B",
"gene_hgnc_id": 14516,
"dbsnp": "rs140805833",
"frequency_reference_population": 0.000020444906,
"hom_count_reference_population": 0,
"allele_count_reference_population": 33,
"gnomad_exomes_af": 0.0000171022,
"gnomad_genomes_af": 0.0000525307,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11434969305992126,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.031,
"revel_prediction": "Benign",
"alphamissense_score": 0.0895,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.506,
"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": "NM_014046.4",
"gene_symbol": "MRPS18B",
"hgnc_id": 14516,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.212G>A",
"hgvs_p": "p.Arg71His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}