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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: X-136745320-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=136745320&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 136745320,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001440994.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "NM_004840.3",
"protein_id": "NP_004831.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 776,
"cds_start": 362,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000250617.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004840.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "ENST00000250617.7",
"protein_id": "ENSP00000250617.6",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 776,
"cds_start": 362,
"cds_end": null,
"cds_length": 2331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004840.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000250617.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.-101G>A",
"hgvs_p": null,
"transcript": "ENST00000370622.5",
"protein_id": "ENSP00000359656.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": null,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370622.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "NM_001440994.1",
"protein_id": "NP_001427923.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 803,
"cds_start": 362,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440994.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "ENST00000881407.1",
"protein_id": "ENSP00000551466.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 803,
"cds_start": 362,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881407.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "ENST00000881408.1",
"protein_id": "ENSP00000551467.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 799,
"cds_start": 362,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881408.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "NM_001440995.1",
"protein_id": "NP_001427924.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 780,
"cds_start": 362,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440995.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "ENST00000881406.1",
"protein_id": "ENSP00000551465.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 780,
"cds_start": 362,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881406.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "NM_001440996.1",
"protein_id": "NP_001427925.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 769,
"cds_start": 362,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440996.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "ENST00000881405.1",
"protein_id": "ENSP00000551464.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 769,
"cds_start": 362,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881405.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "ENST00000955722.1",
"protein_id": "ENSP00000625781.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 756,
"cds_start": 362,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955722.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "NM_001440993.1",
"protein_id": "NP_001427922.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 727,
"cds_start": 362,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440993.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "ENST00000881404.1",
"protein_id": "ENSP00000551463.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 727,
"cds_start": 362,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881404.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Arg64His",
"transcript": "NM_001440997.1",
"protein_id": "NP_001427926.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 719,
"cds_start": 191,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440997.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Arg64His",
"transcript": "NM_001440998.1",
"protein_id": "NP_001427927.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 719,
"cds_start": 191,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440998.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His",
"transcript": "XM_017029975.3",
"protein_id": "XP_016885464.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 807,
"cds_start": 362,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029975.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Arg64His",
"transcript": "XM_011531415.3",
"protein_id": "XP_011529717.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 746,
"cds_start": 191,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531415.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.191G>A",
"hgvs_p": "p.Arg64His",
"transcript": "XM_047442673.1",
"protein_id": "XP_047298629.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 723,
"cds_start": 191,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442673.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.-101G>A",
"hgvs_p": null,
"transcript": "NM_001306177.2",
"protein_id": "NP_001293106.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": null,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001306177.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.-101G>A",
"hgvs_p": null,
"transcript": "ENST00000370620.5",
"protein_id": "ENSP00000359654.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": null,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370620.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"hgvs_c": "c.-101G>A",
"hgvs_p": null,
"transcript": "XM_047442675.1",
"protein_id": "XP_047298631.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 626,
"cds_start": null,
"cds_end": null,
"cds_length": 1881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442675.1"
}
],
"gene_symbol": "ARHGEF6",
"gene_hgnc_id": 685,
"dbsnp": "rs35106300",
"frequency_reference_population": 0.005646425,
"hom_count_reference_population": 2168,
"allele_count_reference_population": 6830,
"gnomad_exomes_af": 0.00582043,
"gnomad_genomes_af": 0.00393996,
"gnomad_exomes_ac": 6389,
"gnomad_genomes_ac": 441,
"gnomad_exomes_homalt": 16,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.005968034267425537,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.026,
"revel_prediction": "Benign",
"alphamissense_score": 0.0726,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.744,
"phylop100way_prediction": "Benign",
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001440994.1",
"gene_symbol": "ARHGEF6",
"hgnc_id": 685,
"effects": [
"missense_variant"
],
"inheritance_mode": "XL,AD",
"hgvs_c": "c.362G>A",
"hgvs_p": "p.Arg121His"
}
],
"clinvar_disease": " X-linked 46,ARHGEF6-related disorder,Genetic developmental and epileptic encephalopathy,Intellectual disability,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:5",
"phenotype_combined": "not specified|not provided|ARHGEF6-related disorder|Intellectual disability, X-linked 46|Genetic developmental and epileptic encephalopathy|Intellectual disability",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}