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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: 15-69455270-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=69455270&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 69455270,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001003.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "F",
"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": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "c.248C>T",
"hgvs_p": "p.Ser83Phe",
"transcript": "NM_001003.3",
"protein_id": "NP_000994.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 114,
"cds_start": 248,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000260379.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003.3"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "c.248C>T",
"hgvs_p": "p.Ser83Phe",
"transcript": "ENST00000260379.11",
"protein_id": "ENSP00000346037.5",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 114,
"cds_start": 248,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001003.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260379.11"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "c.248C>T",
"hgvs_p": "p.Ser83Phe",
"transcript": "ENST00000911454.1",
"protein_id": "ENSP00000581512.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 115,
"cds_start": 248,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911454.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "c.245C>T",
"hgvs_p": "p.Ser82Phe",
"transcript": "ENST00000859701.1",
"protein_id": "ENSP00000529760.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 113,
"cds_start": 245,
"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": "ENST00000859701.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ser80Phe",
"transcript": "ENST00000911449.1",
"protein_id": "ENSP00000581508.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 111,
"cds_start": 239,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911449.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Ser79Phe",
"transcript": "ENST00000859700.1",
"protein_id": "ENSP00000529759.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 110,
"cds_start": 236,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859700.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "c.248C>T",
"hgvs_p": "p.Ser83Phe",
"transcript": "ENST00000911446.1",
"protein_id": "ENSP00000581505.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 109,
"cds_start": 248,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911446.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ser78Phe",
"transcript": "ENST00000911448.1",
"protein_id": "ENSP00000581507.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 109,
"cds_start": 233,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911448.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "c.233C>T",
"hgvs_p": "p.Ser78Phe",
"transcript": "ENST00000911452.1",
"protein_id": "ENSP00000581510.1",
"transcript_support_level": null,
"aa_start": 78,
"aa_end": null,
"aa_length": 109,
"cds_start": 233,
"cds_end": null,
"cds_length": 330,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911452.1"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ser58Phe",
"transcript": "NM_213725.2",
"protein_id": "NP_998890.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 89,
"cds_start": 173,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_213725.2"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "c.173C>T",
"hgvs_p": "p.Ser58Phe",
"transcript": "ENST00000357790.5",
"protein_id": "ENSP00000350437.5",
"transcript_support_level": 2,
"aa_start": 58,
"aa_end": null,
"aa_length": 89,
"cds_start": 173,
"cds_end": null,
"cds_length": 270,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357790.5"
},
{
"aa_ref": "S",
"aa_alt": "F",
"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": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "c.167C>T",
"hgvs_p": "p.Ser56Phe",
"transcript": "ENST00000911445.1",
"protein_id": "ENSP00000581504.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 87,
"cds_start": 167,
"cds_end": null,
"cds_length": 264,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911445.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "c.235+13C>T",
"hgvs_p": null,
"transcript": "ENST00000911447.1",
"protein_id": "ENSP00000581506.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 104,
"cds_start": null,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911447.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "c.73-158C>T",
"hgvs_p": null,
"transcript": "ENST00000560274.1",
"protein_id": "ENSP00000453067.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 54,
"cds_start": null,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560274.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "c.73-163C>T",
"hgvs_p": null,
"transcript": "ENST00000911451.1",
"protein_id": "ENSP00000581509.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 48,
"cds_start": null,
"cds_end": null,
"cds_length": 147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911451.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "c.61-163C>T",
"hgvs_p": null,
"transcript": "ENST00000911455.1",
"protein_id": "ENSP00000581513.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 44,
"cds_start": null,
"cds_end": null,
"cds_length": 135,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911455.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "c.61-184C>T",
"hgvs_p": null,
"transcript": "ENST00000911453.1",
"protein_id": "ENSP00000581511.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 37,
"cds_start": null,
"cds_end": null,
"cds_length": 114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911453.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "n.1826C>T",
"hgvs_p": null,
"transcript": "ENST00000487304.6",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000487304.6"
},
{
"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": "RPLP1",
"gene_hgnc_id": 10372,
"hgvs_c": "n.804C>T",
"hgvs_p": null,
"transcript": "ENST00000488122.2",
"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": "ENST00000488122.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "KIF23-AS1",
"gene_hgnc_id": 27075,
"hgvs_c": "n.760+6742G>A",
"hgvs_p": null,
"transcript": "ENST00000754320.1",
"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": "pseudogene",
"feature": "ENST00000754320.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KIF23-AS1",
"gene_hgnc_id": 27075,
"hgvs_c": "n.391+6742G>A",
"hgvs_p": null,
"transcript": "ENST00000754321.1",
"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": "pseudogene",
"feature": "ENST00000754321.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "KIF23-AS1",
"gene_hgnc_id": 27075,
"hgvs_c": "n.419+6742G>A",
"hgvs_p": null,
"transcript": "ENST00000754322.1",
"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": "pseudogene",
"feature": "ENST00000754322.1"
}
],
"gene_symbol": "RPLP1",
"gene_hgnc_id": 10372,
"dbsnp": "rs748265018",
"frequency_reference_population": 0.000026855765,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000283352,
"gnomad_genomes_af": 0.0000131375,
"gnomad_exomes_ac": 40,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06910973787307739,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.255,
"revel_prediction": "Benign",
"alphamissense_score": 0.6855,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.69,
"phylop100way_prediction": "Benign",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001003.3",
"gene_symbol": "RPLP1",
"hgnc_id": 10372,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.248C>T",
"hgvs_p": "p.Ser83Phe"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000754320.1",
"gene_symbol": "KIF23-AS1",
"hgnc_id": 27075,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.760+6742G>A",
"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
}