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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: 16-590321-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=590321&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 590321,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_021168.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40C",
"gene_hgnc_id": 18285,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "NM_021168.5",
"protein_id": "NP_066991.3",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 281,
"cds_start": 30,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000248139.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021168.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40C",
"gene_hgnc_id": 18285,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "ENST00000248139.8",
"protein_id": "ENSP00000248139.3",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 281,
"cds_start": 30,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021168.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000248139.8"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40C",
"gene_hgnc_id": 18285,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "ENST00000851113.1",
"protein_id": "ENSP00000521172.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 341,
"cds_start": 30,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851113.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40C",
"gene_hgnc_id": 18285,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "ENST00000851112.1",
"protein_id": "ENSP00000521171.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 285,
"cds_start": 30,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851112.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40C",
"gene_hgnc_id": 18285,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "NM_001172663.2",
"protein_id": "NP_001166134.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 281,
"cds_start": 30,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172663.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40C",
"gene_hgnc_id": 18285,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "NM_001172664.2",
"protein_id": "NP_001166135.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 281,
"cds_start": 30,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172664.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40C",
"gene_hgnc_id": 18285,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "NM_001172665.2",
"protein_id": "NP_001166136.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 281,
"cds_start": 30,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172665.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40C",
"gene_hgnc_id": 18285,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "ENST00000535977.5",
"protein_id": "ENSP00000438492.1",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 281,
"cds_start": 30,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535977.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40C",
"gene_hgnc_id": 18285,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "ENST00000538492.5",
"protein_id": "ENSP00000438382.1",
"transcript_support_level": 2,
"aa_start": 10,
"aa_end": null,
"aa_length": 281,
"cds_start": 30,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538492.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40C",
"gene_hgnc_id": 18285,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "ENST00000539661.5",
"protein_id": "ENSP00000445050.1",
"transcript_support_level": 3,
"aa_start": 10,
"aa_end": null,
"aa_length": 281,
"cds_start": 30,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539661.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40C",
"gene_hgnc_id": 18285,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "ENST00000940190.1",
"protein_id": "ENSP00000610249.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 281,
"cds_start": 30,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940190.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40C",
"gene_hgnc_id": 18285,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "ENST00000951863.1",
"protein_id": "ENSP00000621922.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 281,
"cds_start": 30,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951863.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40C",
"gene_hgnc_id": 18285,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "ENST00000951864.1",
"protein_id": "ENSP00000621923.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 281,
"cds_start": 30,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951864.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40C",
"gene_hgnc_id": 18285,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "NM_001172666.2",
"protein_id": "NP_001166137.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 262,
"cds_start": 30,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172666.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40C",
"gene_hgnc_id": 18285,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "ENST00000566290.5",
"protein_id": "ENSP00000455029.1",
"transcript_support_level": 3,
"aa_start": 10,
"aa_end": null,
"aa_length": 212,
"cds_start": 30,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566290.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40C",
"gene_hgnc_id": 18285,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "ENST00000568586.5",
"protein_id": "ENSP00000457116.1",
"transcript_support_level": 2,
"aa_start": 10,
"aa_end": null,
"aa_length": 187,
"cds_start": 30,
"cds_end": null,
"cds_length": 565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568586.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40C",
"gene_hgnc_id": 18285,
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg",
"transcript": "ENST00000569575.5",
"protein_id": "ENSP00000454347.1",
"transcript_support_level": 2,
"aa_start": 10,
"aa_end": null,
"aa_length": 155,
"cds_start": 30,
"cds_end": null,
"cds_length": 470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569575.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40C",
"gene_hgnc_id": 18285,
"hgvs_c": "n.24C>G",
"hgvs_p": null,
"transcript": "ENST00000509637.6",
"protein_id": "ENSP00000455232.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000509637.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40C",
"gene_hgnc_id": 18285,
"hgvs_c": "n.30C>G",
"hgvs_p": null,
"transcript": "ENST00000565511.5",
"protein_id": "ENSP00000457845.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000565511.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB40C",
"gene_hgnc_id": 18285,
"hgvs_c": "c.-13C>G",
"hgvs_p": null,
"transcript": "ENST00000563109.1",
"protein_id": "ENSP00000455225.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 235,
"cds_start": null,
"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": "ENST00000563109.1"
}
],
"gene_symbol": "RAB40C",
"gene_hgnc_id": 18285,
"dbsnp": "rs2035962835",
"frequency_reference_population": 0.0000050328013,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000486904,
"gnomad_genomes_af": 0.00000658259,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.31395477056503296,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.234,
"revel_prediction": "Benign",
"alphamissense_score": 0.6679,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.238,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_021168.5",
"gene_symbol": "RAB40C",
"hgnc_id": 18285,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.30C>G",
"hgvs_p": "p.Ser10Arg"
}
],
"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
}