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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: 1-229302939-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=229302939&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 229302939,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004578.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB4A",
"gene_hgnc_id": 9781,
"hgvs_c": "c.619C>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "NM_004578.4",
"protein_id": "NP_004569.2",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 218,
"cds_start": 619,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366690.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004578.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB4A",
"gene_hgnc_id": 9781,
"hgvs_c": "c.619C>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "ENST00000366690.5",
"protein_id": "ENSP00000355651.4",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 218,
"cds_start": 619,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004578.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366690.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB4A",
"gene_hgnc_id": 9781,
"hgvs_c": "c.637C>G",
"hgvs_p": "p.Arg213Gly",
"transcript": "ENST00000895473.1",
"protein_id": "ENSP00000565532.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 224,
"cds_start": 637,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895473.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB4A",
"gene_hgnc_id": 9781,
"hgvs_c": "c.619C>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "ENST00000895475.1",
"protein_id": "ENSP00000565534.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 218,
"cds_start": 619,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895475.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB4A",
"gene_hgnc_id": 9781,
"hgvs_c": "c.619C>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "ENST00000895476.1",
"protein_id": "ENSP00000565535.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 218,
"cds_start": 619,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895476.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB4A",
"gene_hgnc_id": 9781,
"hgvs_c": "c.619C>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "ENST00000919086.1",
"protein_id": "ENSP00000589145.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 218,
"cds_start": 619,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919086.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB4A",
"gene_hgnc_id": 9781,
"hgvs_c": "c.613C>G",
"hgvs_p": "p.Arg205Gly",
"transcript": "ENST00000895474.1",
"protein_id": "ENSP00000565533.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 216,
"cds_start": 613,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895474.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB4A",
"gene_hgnc_id": 9781,
"hgvs_c": "c.589C>G",
"hgvs_p": "p.Arg197Gly",
"transcript": "ENST00000919084.1",
"protein_id": "ENSP00000589143.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 208,
"cds_start": 589,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919084.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB4A",
"gene_hgnc_id": 9781,
"hgvs_c": "c.556C>G",
"hgvs_p": "p.Arg186Gly",
"transcript": "ENST00000962542.1",
"protein_id": "ENSP00000632601.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 197,
"cds_start": 556,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962542.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB4A",
"gene_hgnc_id": 9781,
"hgvs_c": "c.538C>G",
"hgvs_p": "p.Arg180Gly",
"transcript": "ENST00000895472.1",
"protein_id": "ENSP00000565531.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 191,
"cds_start": 538,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000895472.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB4A",
"gene_hgnc_id": 9781,
"hgvs_c": "c.322C>G",
"hgvs_p": "p.Arg108Gly",
"transcript": "ENST00000919085.1",
"protein_id": "ENSP00000589144.1",
"transcript_support_level": null,
"aa_start": 108,
"aa_end": null,
"aa_length": 119,
"cds_start": 322,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919085.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB4A",
"gene_hgnc_id": 9781,
"hgvs_c": "c.304C>G",
"hgvs_p": "p.Arg102Gly",
"transcript": "NM_001271998.2",
"protein_id": "NP_001258927.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 113,
"cds_start": 304,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271998.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB4A",
"gene_hgnc_id": 9781,
"hgvs_c": "c.304C>G",
"hgvs_p": "p.Arg102Gly",
"transcript": "ENST00000618010.4",
"protein_id": "ENSP00000482077.1",
"transcript_support_level": 3,
"aa_start": 102,
"aa_end": null,
"aa_length": 113,
"cds_start": 304,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618010.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB4A",
"gene_hgnc_id": 9781,
"hgvs_c": "n.569C>G",
"hgvs_p": null,
"transcript": "ENST00000473894.1",
"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": "ENST00000473894.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB4A",
"gene_hgnc_id": 9781,
"hgvs_c": "n.810C>G",
"hgvs_p": null,
"transcript": "NR_073545.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_073545.2"
}
],
"gene_symbol": "RAB4A",
"gene_hgnc_id": 9781,
"dbsnp": "rs779345299",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22015145421028137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.14000000059604645,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.158,
"revel_prediction": "Benign",
"alphamissense_score": 0.1617,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.228,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.14,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004578.4",
"gene_symbol": "RAB4A",
"hgnc_id": 9781,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.619C>G",
"hgvs_p": "p.Arg207Gly"
}
],
"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
}