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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: 12-14944778-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=14944778&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 14944778,
"ref": "T",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001175.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIB",
"gene_hgnc_id": 679,
"hgvs_c": "c.404A>C",
"hgvs_p": "p.Lys135Thr",
"transcript": "NM_001175.7",
"protein_id": "NP_001166.3",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 201,
"cds_start": 404,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000228945.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001175.7"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIB",
"gene_hgnc_id": 679,
"hgvs_c": "c.404A>C",
"hgvs_p": "p.Lys135Thr",
"transcript": "ENST00000228945.9",
"protein_id": "ENSP00000228945.4",
"transcript_support_level": 1,
"aa_start": 135,
"aa_end": null,
"aa_length": 201,
"cds_start": 404,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001175.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228945.9"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIB",
"gene_hgnc_id": 679,
"hgvs_c": "c.404A>C",
"hgvs_p": "p.Lys135Thr",
"transcript": "NM_001321420.2",
"protein_id": "NP_001308349.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 201,
"cds_start": 404,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321420.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIB",
"gene_hgnc_id": 679,
"hgvs_c": "c.404A>C",
"hgvs_p": "p.Lys135Thr",
"transcript": "NM_001321421.2",
"protein_id": "NP_001308350.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 201,
"cds_start": 404,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321421.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIB",
"gene_hgnc_id": 679,
"hgvs_c": "c.404A>C",
"hgvs_p": "p.Lys135Thr",
"transcript": "NM_001321422.1",
"protein_id": "NP_001308351.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 201,
"cds_start": 404,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321422.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIB",
"gene_hgnc_id": 679,
"hgvs_c": "c.404A>C",
"hgvs_p": "p.Lys135Thr",
"transcript": "NM_001321423.1",
"protein_id": "NP_001308352.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 201,
"cds_start": 404,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321423.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIB",
"gene_hgnc_id": 679,
"hgvs_c": "c.404A>C",
"hgvs_p": "p.Lys135Thr",
"transcript": "ENST00000541546.5",
"protein_id": "ENSP00000440560.1",
"transcript_support_level": 5,
"aa_start": 135,
"aa_end": null,
"aa_length": 201,
"cds_start": 404,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541546.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIB",
"gene_hgnc_id": 679,
"hgvs_c": "c.404A>C",
"hgvs_p": "p.Lys135Thr",
"transcript": "ENST00000541644.5",
"protein_id": "ENSP00000444860.1",
"transcript_support_level": 5,
"aa_start": 135,
"aa_end": null,
"aa_length": 201,
"cds_start": 404,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541644.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIB",
"gene_hgnc_id": 679,
"hgvs_c": "c.404A>C",
"hgvs_p": "p.Lys135Thr",
"transcript": "ENST00000880005.1",
"protein_id": "ENSP00000550064.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 201,
"cds_start": 404,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880005.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIB",
"gene_hgnc_id": 679,
"hgvs_c": "c.404A>C",
"hgvs_p": "p.Lys135Thr",
"transcript": "ENST00000880006.1",
"protein_id": "ENSP00000550065.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 201,
"cds_start": 404,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880006.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIB",
"gene_hgnc_id": 679,
"hgvs_c": "c.404A>C",
"hgvs_p": "p.Lys135Thr",
"transcript": "ENST00000880007.1",
"protein_id": "ENSP00000550066.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 201,
"cds_start": 404,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880007.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIB",
"gene_hgnc_id": 679,
"hgvs_c": "c.404A>C",
"hgvs_p": "p.Lys135Thr",
"transcript": "ENST00000880008.1",
"protein_id": "ENSP00000550067.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 201,
"cds_start": 404,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880008.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIB",
"gene_hgnc_id": 679,
"hgvs_c": "c.404A>C",
"hgvs_p": "p.Lys135Thr",
"transcript": "ENST00000880009.1",
"protein_id": "ENSP00000550068.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 201,
"cds_start": 404,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880009.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIB",
"gene_hgnc_id": 679,
"hgvs_c": "c.404A>C",
"hgvs_p": "p.Lys135Thr",
"transcript": "ENST00000880010.1",
"protein_id": "ENSP00000550069.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 201,
"cds_start": 404,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880010.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIB",
"gene_hgnc_id": 679,
"hgvs_c": "c.404A>C",
"hgvs_p": "p.Lys135Thr",
"transcript": "ENST00000880011.1",
"protein_id": "ENSP00000550070.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 201,
"cds_start": 404,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880011.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIB",
"gene_hgnc_id": 679,
"hgvs_c": "c.404A>C",
"hgvs_p": "p.Lys135Thr",
"transcript": "ENST00000970038.1",
"protein_id": "ENSP00000640097.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 201,
"cds_start": 404,
"cds_end": null,
"cds_length": 606,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970038.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIB",
"gene_hgnc_id": 679,
"hgvs_c": "c.383A>C",
"hgvs_p": "p.Lys128Thr",
"transcript": "ENST00000536592.5",
"protein_id": "ENSP00000445185.1",
"transcript_support_level": 3,
"aa_start": 128,
"aa_end": null,
"aa_length": 194,
"cds_start": 383,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536592.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIB",
"gene_hgnc_id": 679,
"hgvs_c": "c.404A>C",
"hgvs_p": "p.Lys135Thr",
"transcript": "ENST00000545895.5",
"protein_id": "ENSP00000445263.1",
"transcript_support_level": 5,
"aa_start": 135,
"aa_end": null,
"aa_length": 157,
"cds_start": 404,
"cds_end": null,
"cds_length": 476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545895.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIB",
"gene_hgnc_id": 679,
"hgvs_c": "n.236A>C",
"hgvs_p": null,
"transcript": "ENST00000539131.1",
"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": "pseudogene",
"feature": "ENST00000539131.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGDIB",
"gene_hgnc_id": 679,
"hgvs_c": "n.236A>C",
"hgvs_p": null,
"transcript": "NR_135637.2",
"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": "NR_135637.2"
}
],
"gene_symbol": "ARHGDIB",
"gene_hgnc_id": 679,
"dbsnp": "rs1863969818",
"frequency_reference_population": 0.0000037207687,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000205425,
"gnomad_genomes_af": 0.0000197127,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.34462249279022217,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.201,
"revel_prediction": "Benign",
"alphamissense_score": 0.6981,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.846,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.000252570671386692,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_001175.7",
"gene_symbol": "ARHGDIB",
"hgnc_id": 679,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.404A>C",
"hgvs_p": "p.Lys135Thr"
}
],
"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
}