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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-136706928-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=136706928&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ARHGEF6",
"hgnc_id": 685,
"hgvs_c": "c.1107A>G",
"hgvs_p": "p.Val369Val",
"inheritance_mode": "XL,AD",
"pathogenic_score": 2,
"score": -5,
"transcript": "NM_001440994.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "X",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5299999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 776,
"aa_ref": "V",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4860,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 2331,
"cds_start": 1026,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_004840.3",
"gene_hgnc_id": 685,
"gene_symbol": "ARHGEF6",
"hgvs_c": "c.1026A>G",
"hgvs_p": "p.Val342Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000250617.7",
"protein_coding": true,
"protein_id": "NP_004831.1",
"strand": false,
"transcript": "NM_004840.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 776,
"aa_ref": "V",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4860,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 2331,
"cds_start": 1026,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000250617.7",
"gene_hgnc_id": 685,
"gene_symbol": "ARHGEF6",
"hgvs_c": "c.1026A>G",
"hgvs_p": "p.Val342Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004840.3",
"protein_coding": true,
"protein_id": "ENSP00000250617.6",
"strand": false,
"transcript": "ENST00000250617.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 622,
"aa_ref": "V",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4779,
"cdna_start": 992,
"cds_end": null,
"cds_length": 1869,
"cds_start": 564,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000370622.5",
"gene_hgnc_id": 685,
"gene_symbol": "ARHGEF6",
"hgvs_c": "c.564A>G",
"hgvs_p": "p.Val188Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359656.1",
"strand": false,
"transcript": "ENST00000370622.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 803,
"aa_ref": "V",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4941,
"cdna_start": 1157,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1107,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001440994.1",
"gene_hgnc_id": 685,
"gene_symbol": "ARHGEF6",
"hgvs_c": "c.1107A>G",
"hgvs_p": "p.Val369Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427923.1",
"strand": false,
"transcript": "NM_001440994.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 803,
"aa_ref": "V",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5016,
"cdna_start": 1232,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1107,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000881407.1",
"gene_hgnc_id": 685,
"gene_symbol": "ARHGEF6",
"hgvs_c": "c.1107A>G",
"hgvs_p": "p.Val369Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551466.1",
"strand": false,
"transcript": "ENST00000881407.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 799,
"aa_ref": "V",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3339,
"cdna_start": 1177,
"cds_end": null,
"cds_length": 2400,
"cds_start": 1095,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000881408.1",
"gene_hgnc_id": 685,
"gene_symbol": "ARHGEF6",
"hgvs_c": "c.1095A>G",
"hgvs_p": "p.Val365Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551467.1",
"strand": false,
"transcript": "ENST00000881408.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 780,
"aa_ref": "V",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 2343,
"cds_start": 1026,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001440995.1",
"gene_hgnc_id": 685,
"gene_symbol": "ARHGEF6",
"hgvs_c": "c.1026A>G",
"hgvs_p": "p.Val342Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427924.1",
"strand": false,
"transcript": "NM_001440995.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 780,
"aa_ref": "V",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5151,
"cdna_start": 1355,
"cds_end": null,
"cds_length": 2343,
"cds_start": 1026,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000881406.1",
"gene_hgnc_id": 685,
"gene_symbol": "ARHGEF6",
"hgvs_c": "c.1026A>G",
"hgvs_p": "p.Val342Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551465.1",
"strand": false,
"transcript": "ENST00000881406.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 769,
"aa_ref": "V",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4839,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 2310,
"cds_start": 1026,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001440996.1",
"gene_hgnc_id": 685,
"gene_symbol": "ARHGEF6",
"hgvs_c": "c.1026A>G",
"hgvs_p": "p.Val342Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427925.1",
"strand": false,
"transcript": "NM_001440996.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 769,
"aa_ref": "V",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5160,
"cdna_start": 1397,
"cds_end": null,
"cds_length": 2310,
"cds_start": 1026,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000881405.1",
"gene_hgnc_id": 685,
"gene_symbol": "ARHGEF6",
"hgvs_c": "c.1026A>G",
"hgvs_p": "p.Val342Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551464.1",
"strand": false,
"transcript": "ENST00000881405.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 756,
"aa_ref": "V",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3920,
"cdna_start": 1649,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1026,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000955722.1",
"gene_hgnc_id": 685,
"gene_symbol": "ARHGEF6",
"hgvs_c": "c.1026A>G",
"hgvs_p": "p.Val342Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625781.1",
"strand": false,
"transcript": "ENST00000955722.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 727,
"aa_ref": "V",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4713,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1026,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001440993.1",
"gene_hgnc_id": 685,
"gene_symbol": "ARHGEF6",
"hgvs_c": "c.1026A>G",
"hgvs_p": "p.Val342Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427922.1",
"strand": false,
"transcript": "NM_001440993.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 727,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5472,
"cdna_start": 1832,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1026,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000881404.1",
"gene_hgnc_id": 685,
"gene_symbol": "ARHGEF6",
"hgvs_c": "c.1026A>G",
"hgvs_p": "p.Val342Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551463.1",
"strand": false,
"transcript": "ENST00000881404.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 719,
"aa_ref": "V",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5616,
"cdna_start": 1832,
"cds_end": null,
"cds_length": 2160,
"cds_start": 855,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001440997.1",
"gene_hgnc_id": 685,
"gene_symbol": "ARHGEF6",
"hgvs_c": "c.855A>G",
"hgvs_p": "p.Val285Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427926.1",
"strand": false,
"transcript": "NM_001440997.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 719,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5243,
"cdna_start": 1459,
"cds_end": null,
"cds_length": 2160,
"cds_start": 855,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001440998.1",
"gene_hgnc_id": 685,
"gene_symbol": "ARHGEF6",
"hgvs_c": "c.855A>G",
"hgvs_p": "p.Val285Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427927.1",
"strand": false,
"transcript": "NM_001440998.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 622,
"aa_ref": "V",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5233,
"cdna_start": 1449,
"cds_end": null,
"cds_length": 1869,
"cds_start": 564,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001306177.2",
"gene_hgnc_id": 685,
"gene_symbol": "ARHGEF6",
"hgvs_c": "c.564A>G",
"hgvs_p": "p.Val188Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001293106.1",
"strand": false,
"transcript": "NM_001306177.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 622,
"aa_ref": "V",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4764,
"cdna_start": 977,
"cds_end": null,
"cds_length": 1869,
"cds_start": 564,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000370620.5",
"gene_hgnc_id": 685,
"gene_symbol": "ARHGEF6",
"hgvs_c": "c.564A>G",
"hgvs_p": "p.Val188Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000359654.1",
"strand": false,
"transcript": "ENST00000370620.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
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"aa_length": 807,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4953,
"cdna_start": 1157,
"cds_end": null,
"cds_length": 2424,
"cds_start": 1107,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017029975.3",
"gene_hgnc_id": 685,
"gene_symbol": "ARHGEF6",
"hgvs_c": "c.1107A>G",
"hgvs_p": "p.Val369Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016885464.1",
"strand": false,
"transcript": "XM_017029975.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 746,
"aa_ref": "V",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5020,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 2241,
"cds_start": 936,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011531415.3",
"gene_hgnc_id": 685,
"gene_symbol": "ARHGEF6",
"hgvs_c": "c.936A>G",
"hgvs_p": "p.Val312Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529717.1",
"strand": false,
"transcript": "XM_011531415.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 723,
"aa_ref": "V",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4951,
"cdna_start": 1155,
"cds_end": null,
"cds_length": 2172,
"cds_start": 855,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047442673.1",
"gene_hgnc_id": 685,
"gene_symbol": "ARHGEF6",
"hgvs_c": "c.855A>G",
"hgvs_p": "p.Val285Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298629.1",
"strand": false,
"transcript": "XM_047442673.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 626,
"aa_ref": "V",
"aa_start": 188,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5245,
"cdna_start": 1449,
"cds_end": null,
"cds_length": 1881,
"cds_start": 564,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047442675.1",
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}
],
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"phenotype_combined": "not specified",
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}
]
}