← 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: 1-94177975-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=94177975&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 94177975,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000260526.11",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP29",
"gene_hgnc_id": 30207,
"hgvs_c": "c.2673A>G",
"hgvs_p": "p.Gln891Gln",
"transcript": "NM_004815.4",
"protein_id": "NP_004806.3",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2673,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 2875,
"cdna_end": null,
"cdna_length": 8952,
"mane_select": "ENST00000260526.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP29",
"gene_hgnc_id": 30207,
"hgvs_c": "c.2673A>G",
"hgvs_p": "p.Gln891Gln",
"transcript": "ENST00000260526.11",
"protein_id": "ENSP00000260526.6",
"transcript_support_level": 1,
"aa_start": 891,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2673,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 2875,
"cdna_end": null,
"cdna_length": 8952,
"mane_select": "NM_004815.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP29",
"gene_hgnc_id": 30207,
"hgvs_c": "n.7249A>G",
"hgvs_p": null,
"transcript": "ENST00000482481.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP29",
"gene_hgnc_id": 30207,
"hgvs_c": "n.2673A>G",
"hgvs_p": null,
"transcript": "ENST00000552844.5",
"protein_id": "ENSP00000449764.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP29",
"gene_hgnc_id": 30207,
"hgvs_c": "c.2673A>G",
"hgvs_p": "p.Gln891Gln",
"transcript": "NM_001328664.2",
"protein_id": "NP_001315593.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2673,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 2887,
"cdna_end": null,
"cdna_length": 8964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP29",
"gene_hgnc_id": 30207,
"hgvs_c": "c.2646A>G",
"hgvs_p": "p.Gln882Gln",
"transcript": "NM_001328666.2",
"protein_id": "NP_001315595.1",
"transcript_support_level": null,
"aa_start": 882,
"aa_end": null,
"aa_length": 1252,
"cds_start": 2646,
"cds_end": null,
"cds_length": 3759,
"cdna_start": 2848,
"cdna_end": null,
"cdna_length": 8925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP29",
"gene_hgnc_id": 30207,
"hgvs_c": "c.2481A>G",
"hgvs_p": "p.Gln827Gln",
"transcript": "NM_001328665.2",
"protein_id": "NP_001315594.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 1197,
"cds_start": 2481,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 2650,
"cdna_end": null,
"cdna_length": 8727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP29",
"gene_hgnc_id": 30207,
"hgvs_c": "c.2481A>G",
"hgvs_p": "p.Gln827Gln",
"transcript": "NM_001328667.2",
"protein_id": "NP_001315596.1",
"transcript_support_level": null,
"aa_start": 827,
"aa_end": null,
"aa_length": 1197,
"cds_start": 2481,
"cds_end": null,
"cds_length": 3594,
"cdna_start": 2638,
"cdna_end": null,
"cdna_length": 8715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP29",
"gene_hgnc_id": 30207,
"hgvs_c": "c.2673A>G",
"hgvs_p": "p.Gln891Gln",
"transcript": "XM_011542439.3",
"protein_id": "XP_011540741.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2673,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 2763,
"cdna_end": null,
"cdna_length": 8840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP29",
"gene_hgnc_id": 30207,
"hgvs_c": "c.2673A>G",
"hgvs_p": "p.Gln891Gln",
"transcript": "XM_047434754.1",
"protein_id": "XP_047290710.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2673,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 2972,
"cdna_end": null,
"cdna_length": 9049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP29",
"gene_hgnc_id": 30207,
"hgvs_c": "c.2673A>G",
"hgvs_p": "p.Gln891Gln",
"transcript": "XM_047434759.1",
"protein_id": "XP_047290715.1",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2673,
"cds_end": null,
"cds_length": 3786,
"cdna_start": 2887,
"cdna_end": null,
"cdna_length": 8964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARHGAP29",
"gene_hgnc_id": 30207,
"dbsnp": "rs1048854",
"frequency_reference_population": 0.2443942,
"hom_count_reference_population": 51897,
"allele_count_reference_population": 394441,
"gnomad_exomes_af": 0.249337,
"gnomad_genomes_af": 0.1969,
"gnomad_exomes_ac": 364483,
"gnomad_genomes_ac": 29958,
"gnomad_exomes_homalt": 48104,
"gnomad_genomes_homalt": 3793,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"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": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.397,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000260526.11",
"gene_symbol": "ARHGAP29",
"hgnc_id": 30207,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2673A>G",
"hgvs_p": "p.Gln891Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}