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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: 14-64951118-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=64951118&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 64951118,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001308154.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB15",
"gene_hgnc_id": 20150,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"transcript": "NM_001308154.2",
"protein_id": "NP_001295083.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 212,
"cds_start": 280,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000533601.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308154.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB15",
"gene_hgnc_id": 20150,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"transcript": "ENST00000533601.7",
"protein_id": "ENSP00000434103.3",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 212,
"cds_start": 280,
"cds_end": null,
"cds_length": 639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001308154.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533601.7"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB15",
"gene_hgnc_id": 20150,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"transcript": "ENST00000267512.9",
"protein_id": "ENSP00000267512.5",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 208,
"cds_start": 280,
"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": "ENST00000267512.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CHURC1-FNTB",
"gene_hgnc_id": 42960,
"hgvs_c": "c.246+25038G>T",
"hgvs_p": null,
"transcript": "ENST00000549987.1",
"protein_id": "ENSP00000447121.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 471,
"cds_start": null,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549987.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB15",
"gene_hgnc_id": 20150,
"hgvs_c": "n.241C>A",
"hgvs_p": null,
"transcript": "ENST00000585059.5",
"protein_id": "ENSP00000464662.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000585059.5"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB15",
"gene_hgnc_id": 20150,
"hgvs_c": "c.382C>A",
"hgvs_p": "p.Arg128Ser",
"transcript": "ENST00000646754.1",
"protein_id": "ENSP00000494998.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 246,
"cds_start": 382,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646754.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB15",
"gene_hgnc_id": 20150,
"hgvs_c": "c.355C>A",
"hgvs_p": "p.Arg119Ser",
"transcript": "ENST00000426039.8",
"protein_id": "ENSP00000433485.3",
"transcript_support_level": 3,
"aa_start": 119,
"aa_end": null,
"aa_length": 237,
"cds_start": 355,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426039.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB15",
"gene_hgnc_id": 20150,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"transcript": "ENST00000865638.1",
"protein_id": "ENSP00000535697.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 212,
"cds_start": 280,
"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": "ENST00000865638.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB15",
"gene_hgnc_id": 20150,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"transcript": "NM_198686.3",
"protein_id": "NP_941959.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 208,
"cds_start": 280,
"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": "NM_198686.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB15",
"gene_hgnc_id": 20150,
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser",
"transcript": "ENST00000969799.1",
"protein_id": "ENSP00000639858.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 206,
"cds_start": 280,
"cds_end": null,
"cds_length": 621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969799.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB15",
"gene_hgnc_id": 20150,
"hgvs_c": "c.142C>A",
"hgvs_p": "p.Arg48Ser",
"transcript": "NM_001330182.2",
"protein_id": "NP_001317111.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 166,
"cds_start": 142,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330182.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB15",
"gene_hgnc_id": 20150,
"hgvs_c": "c.142C>A",
"hgvs_p": "p.Arg48Ser",
"transcript": "ENST00000554593.2",
"protein_id": "ENSP00000452195.2",
"transcript_support_level": 4,
"aa_start": 48,
"aa_end": null,
"aa_length": 166,
"cds_start": 142,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000554593.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB15",
"gene_hgnc_id": 20150,
"hgvs_c": "c.142C>A",
"hgvs_p": "p.Arg48Ser",
"transcript": "ENST00000646728.1",
"protein_id": "ENSP00000496006.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 162,
"cds_start": 142,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646728.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB15",
"gene_hgnc_id": 20150,
"hgvs_c": "c.142C>A",
"hgvs_p": "p.Arg48Ser",
"transcript": "XM_024449577.2",
"protein_id": "XP_024305345.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 162,
"cds_start": 142,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449577.2"
},
{
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CHURC1-FNTB",
"gene_hgnc_id": 42960,
"hgvs_c": "c.327+25038G>T",
"hgvs_p": null,
"transcript": "NM_001202559.1",
"protein_id": "NP_001189488.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 498,
"cds_start": null,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202559.1"
},
{
"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": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHURC1-FNTB",
"gene_hgnc_id": 42960,
"hgvs_c": "c.6+26992G>T",
"hgvs_p": null,
"transcript": "NM_001202558.2",
"protein_id": "NP_001189487.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 391,
"cds_start": null,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202558.2"
},
{
"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": "CHURC1-FNTB",
"gene_hgnc_id": 42960,
"hgvs_c": "c.91+26992G>T",
"hgvs_p": null,
"transcript": "ENST00000553743.5",
"protein_id": "ENSP00000450692.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": null,
"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": "ENST00000553743.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB15",
"gene_hgnc_id": 20150,
"hgvs_c": "n.*365C>A",
"hgvs_p": null,
"transcript": "ENST00000642625.1",
"protein_id": "ENSP00000494630.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000642625.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB15",
"gene_hgnc_id": 20150,
"hgvs_c": "n.836C>A",
"hgvs_p": null,
"transcript": "ENST00000642782.1",
"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": "retained_intron",
"feature": "ENST00000642782.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB15",
"gene_hgnc_id": 20150,
"hgvs_c": "n.*365C>A",
"hgvs_p": null,
"transcript": "ENST00000642625.1",
"protein_id": "ENSP00000494630.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000642625.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CHURC1-FNTB",
"gene_hgnc_id": 42960,
"hgvs_c": "n.*62+18826G>T",
"hgvs_p": null,
"transcript": "ENST00000551823.1",
"protein_id": "ENSP00000449709.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000551823.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHURC1-FNTB",
"gene_hgnc_id": 42960,
"hgvs_c": "n.175+26992G>T",
"hgvs_p": null,
"transcript": "ENST00000552941.6",
"protein_id": "ENSP00000449668.2",
"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": "nonsense_mediated_decay",
"feature": "ENST00000552941.6"
}
],
"gene_symbol": "RAB15",
"gene_hgnc_id": 20150,
"dbsnp": "rs367753617",
"frequency_reference_population": 0.000039692237,
"hom_count_reference_population": 0,
"allele_count_reference_population": 64,
"gnomad_exomes_af": 0.0000424576,
"gnomad_genomes_af": 0.0000131472,
"gnomad_exomes_ac": 62,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5448170900344849,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.448,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5452,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.936,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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_001308154.2",
"gene_symbol": "RAB15",
"hgnc_id": 20150,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.280C>A",
"hgvs_p": "p.Arg94Ser"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001202559.1",
"gene_symbol": "CHURC1-FNTB",
"hgnc_id": 42960,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.327+25038G>T",
"hgvs_p": null
}
],
"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
}