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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: 17-12949142-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=12949142&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 12949142,
"ref": "A",
"alt": "G",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000379672.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP44",
"gene_hgnc_id": 29096,
"hgvs_c": "c.864A>G",
"hgvs_p": "p.Gly288Gly",
"transcript": "NM_014859.6",
"protein_id": "NP_055674.4",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 818,
"cds_start": 864,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 4270,
"mane_select": "ENST00000379672.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP44",
"gene_hgnc_id": 29096,
"hgvs_c": "c.864A>G",
"hgvs_p": "p.Gly288Gly",
"transcript": "ENST00000379672.10",
"protein_id": "ENSP00000368994.5",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 818,
"cds_start": 864,
"cds_end": null,
"cds_length": 2457,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 4270,
"mane_select": "NM_014859.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP44",
"gene_hgnc_id": 29096,
"hgvs_c": "c.864A>G",
"hgvs_p": "p.Gly288Gly",
"transcript": "ENST00000340825.7",
"protein_id": "ENSP00000342566.3",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 812,
"cds_start": 864,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 4211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP44",
"gene_hgnc_id": 29096,
"hgvs_c": "c.864A>G",
"hgvs_p": "p.Gly288Gly",
"transcript": "ENST00000262444.13",
"protein_id": "ENSP00000262444.9",
"transcript_support_level": 1,
"aa_start": 288,
"aa_end": null,
"aa_length": 774,
"cds_start": 864,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 3001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP44",
"gene_hgnc_id": 29096,
"hgvs_c": "n.864A>G",
"hgvs_p": null,
"transcript": "ENST00000544416.6",
"protein_id": "ENSP00000437542.2",
"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": 2533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP44",
"gene_hgnc_id": 29096,
"hgvs_c": "n.*209A>G",
"hgvs_p": null,
"transcript": "ENST00000580768.5",
"protein_id": "ENSP00000462141.1",
"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": 4143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP44",
"gene_hgnc_id": 29096,
"hgvs_c": "n.*209A>G",
"hgvs_p": null,
"transcript": "ENST00000580768.5",
"protein_id": "ENSP00000462141.1",
"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": 4143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP44",
"gene_hgnc_id": 29096,
"hgvs_c": "c.864A>G",
"hgvs_p": "p.Gly288Gly",
"transcript": "NM_001321166.2",
"protein_id": "NP_001308095.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 812,
"cds_start": 864,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 4252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP44",
"gene_hgnc_id": 29096,
"hgvs_c": "c.864A>G",
"hgvs_p": "p.Gly288Gly",
"transcript": "NM_001321167.2",
"protein_id": "NP_001308096.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 774,
"cds_start": 864,
"cds_end": null,
"cds_length": 2325,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 4322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP44",
"gene_hgnc_id": 29096,
"hgvs_c": "c.864A>G",
"hgvs_p": "p.Gly288Gly",
"transcript": "NM_001321164.2",
"protein_id": "NP_001308093.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 768,
"cds_start": 864,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 4304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP44",
"gene_hgnc_id": 29096,
"hgvs_c": "c.264A>G",
"hgvs_p": "p.Gly88Gly",
"transcript": "NM_001321168.2",
"protein_id": "NP_001308097.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 568,
"cds_start": 264,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 4186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP44",
"gene_hgnc_id": 29096,
"hgvs_c": "c.864A>G",
"hgvs_p": "p.Gly288Gly",
"transcript": "XM_005256891.3",
"protein_id": "XP_005256948.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 738,
"cds_start": 864,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 4030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP44",
"gene_hgnc_id": 29096,
"hgvs_c": "c.864A>G",
"hgvs_p": "p.Gly288Gly",
"transcript": "XM_047437221.1",
"protein_id": "XP_047293177.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 686,
"cds_start": 864,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 3874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP44",
"gene_hgnc_id": 29096,
"hgvs_c": "c.264A>G",
"hgvs_p": "p.Gly88Gly",
"transcript": "XM_047437222.1",
"protein_id": "XP_047293178.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 618,
"cds_start": 264,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 353,
"cdna_end": null,
"cdna_length": 3418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP44",
"gene_hgnc_id": 29096,
"hgvs_c": "c.864A>G",
"hgvs_p": "p.Gly288Gly",
"transcript": "XM_047437223.1",
"protein_id": "XP_047293179.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 612,
"cds_start": 864,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGAP44",
"gene_hgnc_id": 29096,
"hgvs_c": "n.1205A>G",
"hgvs_p": null,
"transcript": "NR_135569.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARHGAP44",
"gene_hgnc_id": 29096,
"dbsnp": "rs2072254",
"frequency_reference_population": 0.091429085,
"hom_count_reference_population": 7279,
"allele_count_reference_population": 143043,
"gnomad_exomes_af": 0.0924876,
"gnomad_genomes_af": 0.0815829,
"gnomad_exomes_ac": 130653,
"gnomad_genomes_ac": 12390,
"gnomad_exomes_homalt": 6686,
"gnomad_genomes_homalt": 593,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3700000047683716,
"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": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.05,
"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_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000379672.10",
"gene_symbol": "ARHGAP44",
"hgnc_id": 29096,
"effects": [
"splice_region_variant",
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.864A>G",
"hgvs_p": "p.Gly288Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}