← 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: 7-139575149-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=139575149&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 139575149,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_022740.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK2",
"gene_hgnc_id": 14402,
"hgvs_c": "c.3105G>A",
"hgvs_p": "p.Gln1035Gln",
"transcript": "NM_022740.5",
"protein_id": "NP_073577.3",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1198,
"cds_start": 3105,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000406875.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022740.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK2",
"gene_hgnc_id": 14402,
"hgvs_c": "c.3105G>A",
"hgvs_p": "p.Gln1035Gln",
"transcript": "ENST00000406875.8",
"protein_id": "ENSP00000385571.3",
"transcript_support_level": 1,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1198,
"cds_start": 3105,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022740.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406875.8"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK2",
"gene_hgnc_id": 14402,
"hgvs_c": "c.3024G>A",
"hgvs_p": "p.Gln1008Gln",
"transcript": "ENST00000428878.6",
"protein_id": "ENSP00000413724.2",
"transcript_support_level": 1,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1171,
"cds_start": 3024,
"cds_end": null,
"cds_length": 3516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428878.6"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK2",
"gene_hgnc_id": 14402,
"hgvs_c": "c.3024G>A",
"hgvs_p": "p.Gln1008Gln",
"transcript": "NM_001113239.3",
"protein_id": "NP_001106710.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 1171,
"cds_start": 3024,
"cds_end": null,
"cds_length": 3516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113239.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK2",
"gene_hgnc_id": 14402,
"hgvs_c": "c.3021G>A",
"hgvs_p": "p.Gln1007Gln",
"transcript": "ENST00000907407.1",
"protein_id": "ENSP00000577466.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1170,
"cds_start": 3021,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907407.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK2",
"gene_hgnc_id": 14402,
"hgvs_c": "c.3642G>A",
"hgvs_p": "p.Gln1214Gln",
"transcript": "XM_011516077.4",
"protein_id": "XP_011514379.1",
"transcript_support_level": null,
"aa_start": 1214,
"aa_end": null,
"aa_length": 1377,
"cds_start": 3642,
"cds_end": null,
"cds_length": 4134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516077.4"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK2",
"gene_hgnc_id": 14402,
"hgvs_c": "c.3639G>A",
"hgvs_p": "p.Gln1213Gln",
"transcript": "XM_011516078.4",
"protein_id": "XP_011514380.1",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1376,
"cds_start": 3639,
"cds_end": null,
"cds_length": 4131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516078.4"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK2",
"gene_hgnc_id": 14402,
"hgvs_c": "c.3561G>A",
"hgvs_p": "p.Gln1187Gln",
"transcript": "XM_011516079.4",
"protein_id": "XP_011514381.1",
"transcript_support_level": null,
"aa_start": 1187,
"aa_end": null,
"aa_length": 1350,
"cds_start": 3561,
"cds_end": null,
"cds_length": 4053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516079.4"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK2",
"gene_hgnc_id": 14402,
"hgvs_c": "c.3558G>A",
"hgvs_p": "p.Gln1186Gln",
"transcript": "XM_011516080.4",
"protein_id": "XP_011514382.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1349,
"cds_start": 3558,
"cds_end": null,
"cds_length": 4050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516080.4"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK2",
"gene_hgnc_id": 14402,
"hgvs_c": "c.3129G>A",
"hgvs_p": "p.Gln1043Gln",
"transcript": "XM_011516081.3",
"protein_id": "XP_011514383.1",
"transcript_support_level": null,
"aa_start": 1043,
"aa_end": null,
"aa_length": 1206,
"cds_start": 3129,
"cds_end": null,
"cds_length": 3621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011516081.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK2",
"gene_hgnc_id": 14402,
"hgvs_c": "c.3102G>A",
"hgvs_p": "p.Gln1034Gln",
"transcript": "XM_047420260.1",
"protein_id": "XP_047276216.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1197,
"cds_start": 3102,
"cds_end": null,
"cds_length": 3594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420260.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK2",
"gene_hgnc_id": 14402,
"hgvs_c": "c.3084G>A",
"hgvs_p": "p.Gln1028Gln",
"transcript": "XM_047420261.1",
"protein_id": "XP_047276217.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1191,
"cds_start": 3084,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420261.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK2",
"gene_hgnc_id": 14402,
"hgvs_c": "c.3084G>A",
"hgvs_p": "p.Gln1028Gln",
"transcript": "XM_047420262.1",
"protein_id": "XP_047276218.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1191,
"cds_start": 3084,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420262.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK2",
"gene_hgnc_id": 14402,
"hgvs_c": "c.3084G>A",
"hgvs_p": "p.Gln1028Gln",
"transcript": "XM_047420263.1",
"protein_id": "XP_047276219.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1191,
"cds_start": 3084,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420263.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK2",
"gene_hgnc_id": 14402,
"hgvs_c": "c.3084G>A",
"hgvs_p": "p.Gln1028Gln",
"transcript": "XM_047420264.1",
"protein_id": "XP_047276220.1",
"transcript_support_level": null,
"aa_start": 1028,
"aa_end": null,
"aa_length": 1191,
"cds_start": 3084,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420264.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIPK2",
"gene_hgnc_id": 14402,
"hgvs_c": "c.3021G>A",
"hgvs_p": "p.Gln1007Gln",
"transcript": "XM_047420265.1",
"protein_id": "XP_047276221.1",
"transcript_support_level": null,
"aa_start": 1007,
"aa_end": null,
"aa_length": 1170,
"cds_start": 3021,
"cds_end": null,
"cds_length": 3513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420265.1"
}
],
"gene_symbol": "HIPK2",
"gene_hgnc_id": 14402,
"dbsnp": "rs56300656",
"frequency_reference_population": 0.0018662683,
"hom_count_reference_population": 13,
"allele_count_reference_population": 2976,
"gnomad_exomes_af": 0.00179158,
"gnomad_genomes_af": 0.0025735,
"gnomad_exomes_ac": 2584,
"gnomad_genomes_ac": 392,
"gnomad_exomes_homalt": 11,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.47999998927116394,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.118,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_022740.5",
"gene_symbol": "HIPK2",
"hgnc_id": 14402,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3105G>A",
"hgvs_p": "p.Gln1035Gln"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}