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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: 2-216500001-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=216500001&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 216500001,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000998.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37A",
"gene_hgnc_id": 10348,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.Lys62Arg",
"transcript": "NM_000998.5",
"protein_id": "NP_000989.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 92,
"cds_start": 185,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000491306.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000998.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37A",
"gene_hgnc_id": 10348,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.Lys62Arg",
"transcript": "ENST00000491306.6",
"protein_id": "ENSP00000418082.1",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 92,
"cds_start": 185,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000998.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491306.6"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37A",
"gene_hgnc_id": 10348,
"hgvs_c": "n.585A>G",
"hgvs_p": null,
"transcript": "ENST00000359681.3",
"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": "ENST00000359681.3"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37A",
"gene_hgnc_id": 10348,
"hgvs_c": "n.627A>G",
"hgvs_p": null,
"transcript": "ENST00000478153.1",
"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": "ENST00000478153.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37A",
"gene_hgnc_id": 10348,
"hgvs_c": "n.235A>G",
"hgvs_p": null,
"transcript": "ENST00000490649.1",
"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": "ENST00000490649.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37A",
"gene_hgnc_id": 10348,
"hgvs_c": "c.179A>G",
"hgvs_p": "p.Lys60Arg",
"transcript": "ENST00000939366.1",
"protein_id": "ENSP00000609425.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 90,
"cds_start": 179,
"cds_end": null,
"cds_length": 273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939366.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37A",
"gene_hgnc_id": 10348,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.Lys62Arg",
"transcript": "ENST00000948942.1",
"protein_id": "ENSP00000619001.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 90,
"cds_start": 185,
"cds_end": null,
"cds_length": 273,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948942.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37A",
"gene_hgnc_id": 10348,
"hgvs_c": "c.113A>G",
"hgvs_p": "p.Lys38Arg",
"transcript": "ENST00000427280.6",
"protein_id": "ENSP00000472653.1",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 88,
"cds_start": 113,
"cds_end": null,
"cds_length": 267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427280.6"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37A",
"gene_hgnc_id": 10348,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.Lys62Arg",
"transcript": "ENST00000939368.1",
"protein_id": "ENSP00000609427.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 80,
"cds_start": 185,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939368.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37A",
"gene_hgnc_id": 10348,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.Lys62Arg",
"transcript": "ENST00000446558.5",
"protein_id": "ENSP00000388690.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 75,
"cds_start": 185,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446558.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37A",
"gene_hgnc_id": 10348,
"hgvs_c": "c.185A>G",
"hgvs_p": "p.Lys62Arg",
"transcript": "ENST00000600880.5",
"protein_id": "ENSP00000470348.1",
"transcript_support_level": 2,
"aa_start": 62,
"aa_end": null,
"aa_length": 72,
"cds_start": 185,
"cds_end": null,
"cds_length": 219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600880.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37A",
"gene_hgnc_id": 10348,
"hgvs_c": "c.113A>G",
"hgvs_p": "p.Lys38Arg",
"transcript": "ENST00000456586.5",
"protein_id": "ENSP00000410240.1",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 68,
"cds_start": 113,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456586.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"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": "RPL37A",
"gene_hgnc_id": 10348,
"hgvs_c": "c.113A>G",
"hgvs_p": "p.Lys38Arg",
"transcript": "ENST00000441179.2",
"protein_id": "ENSP00000471102.1",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 60,
"cds_start": 113,
"cds_end": null,
"cds_length": 183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441179.2"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37A",
"gene_hgnc_id": 10348,
"hgvs_c": "c.113A>G",
"hgvs_p": "p.Lys38Arg",
"transcript": "ENST00000598925.5",
"protein_id": "ENSP00000469607.1",
"transcript_support_level": 5,
"aa_start": 38,
"aa_end": null,
"aa_length": 60,
"cds_start": 113,
"cds_end": null,
"cds_length": 183,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598925.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37A",
"gene_hgnc_id": 10348,
"hgvs_c": "c.56A>G",
"hgvs_p": "p.Lys19Arg",
"transcript": "ENST00000939367.1",
"protein_id": "ENSP00000609426.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 49,
"cds_start": 56,
"cds_end": null,
"cds_length": 150,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939367.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37A",
"gene_hgnc_id": 10348,
"hgvs_c": "c.50A>G",
"hgvs_p": "p.Lys17Arg",
"transcript": "ENST00000939369.1",
"protein_id": "ENSP00000609428.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 47,
"cds_start": 50,
"cds_end": null,
"cds_length": 144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939369.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37A",
"gene_hgnc_id": 10348,
"hgvs_c": "n.*43A>G",
"hgvs_p": null,
"transcript": "ENST00000420712.1",
"protein_id": "ENSP00000410080.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000420712.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37A",
"gene_hgnc_id": 10348,
"hgvs_c": "n.766A>G",
"hgvs_p": null,
"transcript": "ENST00000487233.1",
"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": "ENST00000487233.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL37A",
"gene_hgnc_id": 10348,
"hgvs_c": "n.*43A>G",
"hgvs_p": null,
"transcript": "ENST00000420712.1",
"protein_id": "ENSP00000410080.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000420712.1"
}
],
"gene_symbol": "RPL37A",
"gene_hgnc_id": 10348,
"dbsnp": "rs780227256",
"frequency_reference_population": 6.841555e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84156e-7,
"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": 0.5672903656959534,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.228,
"revel_prediction": "Benign",
"alphamissense_score": 0.121,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.212,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000998.5",
"gene_symbol": "RPL37A",
"hgnc_id": 10348,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.185A>G",
"hgvs_p": "p.Lys62Arg"
}
],
"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
}