← Back to variant description
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: 6-111008077-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=111008077&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 111008077,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032194.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "c.433T>C",
"hgvs_p": "p.Phe145Leu",
"transcript": "NM_032194.3",
"protein_id": "NP_115570.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 306,
"cds_start": 433,
"cds_end": null,
"cds_length": 921,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 3671,
"mane_select": "ENST00000441448.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032194.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "c.433T>C",
"hgvs_p": "p.Phe145Leu",
"transcript": "ENST00000441448.7",
"protein_id": "ENSP00000402338.2",
"transcript_support_level": 1,
"aa_start": 145,
"aa_end": null,
"aa_length": 306,
"cds_start": 433,
"cds_end": null,
"cds_length": 921,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 3671,
"mane_select": "NM_032194.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441448.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "n.*215T>C",
"hgvs_p": null,
"transcript": "ENST00000607388.1",
"protein_id": "ENSP00000476081.1",
"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": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000607388.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "n.*215T>C",
"hgvs_p": null,
"transcript": "ENST00000607388.1",
"protein_id": "ENSP00000476081.1",
"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": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000607388.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "c.535T>C",
"hgvs_p": "p.Phe179Leu",
"transcript": "ENST00000885104.1",
"protein_id": "ENSP00000555163.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 340,
"cds_start": 535,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 1119,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885104.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "c.433T>C",
"hgvs_p": "p.Phe145Leu",
"transcript": "ENST00000885102.1",
"protein_id": "ENSP00000555161.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 338,
"cds_start": 433,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 500,
"cdna_end": null,
"cdna_length": 3764,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885102.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "c.376T>C",
"hgvs_p": "p.Phe126Leu",
"transcript": "ENST00000923612.1",
"protein_id": "ENSP00000593671.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 287,
"cds_start": 376,
"cds_end": null,
"cds_length": 864,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 1429,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923612.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "c.355T>C",
"hgvs_p": "p.Phe119Leu",
"transcript": "ENST00000923615.1",
"protein_id": "ENSP00000593674.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 280,
"cds_start": 355,
"cds_end": null,
"cds_length": 843,
"cdna_start": 391,
"cdna_end": null,
"cdna_length": 888,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923615.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "c.274T>C",
"hgvs_p": "p.Phe92Leu",
"transcript": "ENST00000885103.1",
"protein_id": "ENSP00000555162.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 253,
"cds_start": 274,
"cds_end": null,
"cds_length": 762,
"cdna_start": 322,
"cdna_end": null,
"cdna_length": 969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885103.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "c.262T>C",
"hgvs_p": "p.Phe88Leu",
"transcript": "ENST00000923613.1",
"protein_id": "ENSP00000593672.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 249,
"cds_start": 262,
"cds_end": null,
"cds_length": 750,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923613.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "c.244T>C",
"hgvs_p": "p.Phe82Leu",
"transcript": "NM_001289111.2",
"protein_id": "NP_001276040.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 243,
"cds_start": 244,
"cds_end": null,
"cds_length": 732,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289111.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "c.334T>C",
"hgvs_p": "p.Phe112Leu",
"transcript": "ENST00000425871.1",
"protein_id": "ENSP00000414026.1",
"transcript_support_level": 5,
"aa_start": 112,
"aa_end": null,
"aa_length": 213,
"cds_start": 334,
"cds_end": null,
"cds_length": 642,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 906,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425871.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "c.24-16106T>C",
"hgvs_p": null,
"transcript": "ENST00000923614.1",
"protein_id": "ENSP00000593673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": null,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923614.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "n.*242T>C",
"hgvs_p": null,
"transcript": "ENST00000368864.8",
"protein_id": "ENSP00000357857.5",
"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": 873,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000368864.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "n.*242T>C",
"hgvs_p": null,
"transcript": "ENST00000368864.8",
"protein_id": "ENSP00000357857.5",
"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": 873,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000368864.8"
}
],
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"dbsnp": "rs546446194",
"frequency_reference_population": 0.00004423373,
"hom_count_reference_population": 0,
"allele_count_reference_population": 71,
"gnomad_exomes_af": 0.0000467836,
"gnomad_genomes_af": 0.0000197876,
"gnomad_exomes_ac": 68,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7763910293579102,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.615,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9942,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.235,
"phylop100way_prediction": "Uncertain_significance",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032194.3",
"gene_symbol": "RPF2",
"hgnc_id": 20870,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.433T>C",
"hgvs_p": "p.Phe145Leu"
}
],
"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
}