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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: 3-49747848-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49747848&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49747848,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_153273.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K1",
"gene_hgnc_id": 18360,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Glu65Lys",
"transcript": "NM_153273.4",
"protein_id": "NP_695005.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 441,
"cds_start": 193,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000321599.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153273.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K1",
"gene_hgnc_id": 18360,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Glu65Lys",
"transcript": "ENST00000321599.9",
"protein_id": "ENSP00000323780.4",
"transcript_support_level": 1,
"aa_start": 65,
"aa_end": null,
"aa_length": 441,
"cds_start": 193,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153273.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000321599.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K1",
"gene_hgnc_id": 18360,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Glu65Lys",
"transcript": "NM_001242829.2",
"protein_id": "NP_001229758.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 441,
"cds_start": 193,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242829.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K1",
"gene_hgnc_id": 18360,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Glu65Lys",
"transcript": "ENST00000613416.4",
"protein_id": "ENSP00000482032.1",
"transcript_support_level": 5,
"aa_start": 65,
"aa_end": null,
"aa_length": 441,
"cds_start": 193,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613416.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K1",
"gene_hgnc_id": 18360,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Glu65Lys",
"transcript": "ENST00000853567.1",
"protein_id": "ENSP00000523626.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 441,
"cds_start": 193,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853567.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K1",
"gene_hgnc_id": 18360,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Glu65Lys",
"transcript": "ENST00000853568.1",
"protein_id": "ENSP00000523627.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 441,
"cds_start": 193,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853568.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K1",
"gene_hgnc_id": 18360,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Glu65Lys",
"transcript": "ENST00000853569.1",
"protein_id": "ENSP00000523628.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 441,
"cds_start": 193,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853569.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K1",
"gene_hgnc_id": 18360,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Glu65Lys",
"transcript": "ENST00000853570.1",
"protein_id": "ENSP00000523629.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 441,
"cds_start": 193,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853570.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K1",
"gene_hgnc_id": 18360,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Glu65Lys",
"transcript": "ENST00000853571.1",
"protein_id": "ENSP00000523630.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 441,
"cds_start": 193,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853571.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K1",
"gene_hgnc_id": 18360,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Glu65Lys",
"transcript": "ENST00000853572.1",
"protein_id": "ENSP00000523631.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 441,
"cds_start": 193,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853572.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K1",
"gene_hgnc_id": 18360,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Glu65Lys",
"transcript": "ENST00000853573.1",
"protein_id": "ENSP00000523632.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 441,
"cds_start": 193,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853573.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K1",
"gene_hgnc_id": 18360,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Glu65Lys",
"transcript": "ENST00000948636.1",
"protein_id": "ENSP00000618695.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 441,
"cds_start": 193,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948636.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K1",
"gene_hgnc_id": 18360,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Glu65Lys",
"transcript": "ENST00000468463.5",
"protein_id": "ENSP00000420467.1",
"transcript_support_level": 5,
"aa_start": 65,
"aa_end": null,
"aa_length": 274,
"cds_start": 193,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000468463.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K1",
"gene_hgnc_id": 18360,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Glu65Lys",
"transcript": "XM_047449323.1",
"protein_id": "XP_047305279.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 441,
"cds_start": 193,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449323.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K1",
"gene_hgnc_id": 18360,
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Glu65Lys",
"transcript": "XM_047449324.1",
"protein_id": "XP_047305280.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 441,
"cds_start": 193,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449324.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IP6K1",
"gene_hgnc_id": 18360,
"hgvs_c": "c.-272-9426G>A",
"hgvs_p": null,
"transcript": "NM_001006115.3",
"protein_id": "NP_001006115.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": null,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006115.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IP6K1",
"gene_hgnc_id": 18360,
"hgvs_c": "c.-272-9426G>A",
"hgvs_p": null,
"transcript": "ENST00000395238.5",
"protein_id": "ENSP00000378659.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": null,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395238.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IP6K1",
"gene_hgnc_id": 18360,
"hgvs_c": "c.-272-9426G>A",
"hgvs_p": null,
"transcript": "ENST00000460540.1",
"protein_id": "ENSP00000420762.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 276,
"cds_start": null,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000460540.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "IP6K1",
"gene_hgnc_id": 18360,
"hgvs_c": "n.381G>A",
"hgvs_p": null,
"transcript": "ENST00000479464.1",
"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": "ENST00000479464.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IP6K1",
"gene_hgnc_id": 18360,
"hgvs_c": "n.*164G>A",
"hgvs_p": null,
"transcript": "ENST00000498149.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000498149.1"
}
],
"gene_symbol": "IP6K1",
"gene_hgnc_id": 18360,
"dbsnp": "rs751128846",
"frequency_reference_population": 0.0000049567216,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.0000034203,
"gnomad_genomes_af": 0.0000197226,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.41988521814346313,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.187,
"revel_prediction": "Benign",
"alphamissense_score": 0.8752,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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_153273.4",
"gene_symbol": "IP6K1",
"hgnc_id": 18360,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.193G>A",
"hgvs_p": "p.Glu65Lys"
}
],
"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
}