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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-63706394-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=63706394&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 63706394,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000671741.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.266G>T",
"hgvs_p": "p.Gly89Val",
"transcript": "NM_001353921.2",
"protein_id": "NP_001340850.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 523,
"cds_start": 266,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 4702,
"mane_select": "ENST00000671741.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.266G>T",
"hgvs_p": "p.Gly89Val",
"transcript": "ENST00000671741.2",
"protein_id": "ENSP00000500715.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 523,
"cds_start": 266,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 4702,
"mane_select": "NM_001353921.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.245G>T",
"hgvs_p": "p.Gly82Val",
"transcript": "ENST00000253401.10",
"protein_id": "ENSP00000253401.6",
"transcript_support_level": 1,
"aa_start": 82,
"aa_end": null,
"aa_length": 516,
"cds_start": 245,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1046,
"cdna_end": null,
"cdna_length": 5413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.266G>T",
"hgvs_p": "p.Gly89Val",
"transcript": "ENST00000374878.5",
"protein_id": "ENSP00000364012.2",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 487,
"cds_start": 266,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 667,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.-62G>T",
"hgvs_p": null,
"transcript": "ENST00000624843.3",
"protein_id": "ENSP00000485626.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 414,
"cds_start": -4,
"cds_end": null,
"cds_length": 1245,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.245G>T",
"hgvs_p": "p.Gly82Val",
"transcript": "ENST00000374870.8",
"protein_id": "ENSP00000364004.5",
"transcript_support_level": 5,
"aa_start": 82,
"aa_end": null,
"aa_length": 564,
"cds_start": 245,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1022,
"cdna_end": null,
"cdna_length": 4644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.284G>T",
"hgvs_p": "p.Gly95Val",
"transcript": "NM_001353923.1",
"protein_id": "NP_001340852.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 529,
"cds_start": 284,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 4662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.284G>T",
"hgvs_p": "p.Gly95Val",
"transcript": "ENST00000635729.1",
"protein_id": "ENSP00000490940.1",
"transcript_support_level": 5,
"aa_start": 95,
"aa_end": null,
"aa_length": 529,
"cds_start": 284,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 295,
"cdna_end": null,
"cdna_length": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.245G>T",
"hgvs_p": "p.Gly82Val",
"transcript": "NM_001369030.1",
"protein_id": "NP_001355959.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 516,
"cds_start": 245,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 5179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.245G>T",
"hgvs_p": "p.Gly82Val",
"transcript": "NM_001369031.1",
"protein_id": "NP_001355960.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 516,
"cds_start": 245,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 808,
"cdna_end": null,
"cdna_length": 5175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.245G>T",
"hgvs_p": "p.Gly82Val",
"transcript": "NM_001369032.1",
"protein_id": "NP_001355961.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 516,
"cds_start": 245,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 5419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.245G>T",
"hgvs_p": "p.Gly82Val",
"transcript": "NM_015185.3",
"protein_id": "NP_056000.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 516,
"cds_start": 245,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1056,
"cdna_end": null,
"cdna_length": 5423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.245G>T",
"hgvs_p": "p.Gly82Val",
"transcript": "ENST00000671907.1",
"protein_id": "ENSP00000500829.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 516,
"cds_start": 245,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 767,
"cdna_end": null,
"cdna_length": 5117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.182G>T",
"hgvs_p": "p.Gly61Val",
"transcript": "ENST00000638021.1",
"protein_id": "ENSP00000490410.1",
"transcript_support_level": 5,
"aa_start": 61,
"aa_end": null,
"aa_length": 506,
"cds_start": 182,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 677,
"cdna_end": null,
"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.182G>T",
"hgvs_p": "p.Gly61Val",
"transcript": "NM_001330495.2",
"protein_id": "NP_001317424.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 495,
"cds_start": 182,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.182G>T",
"hgvs_p": "p.Gly61Val",
"transcript": "NM_001369033.1",
"protein_id": "NP_001355962.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 495,
"cds_start": 182,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1045,
"cdna_end": null,
"cdna_length": 5412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.182G>T",
"hgvs_p": "p.Gly61Val",
"transcript": "NM_001369034.1",
"protein_id": "NP_001355963.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 495,
"cds_start": 182,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 5168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.182G>T",
"hgvs_p": "p.Gly61Val",
"transcript": "NM_001369035.1",
"protein_id": "NP_001355964.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 495,
"cds_start": 182,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 4806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.182G>T",
"hgvs_p": "p.Gly61Val",
"transcript": "NM_001369036.1",
"protein_id": "NP_001355965.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 495,
"cds_start": 182,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 5490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.182G>T",
"hgvs_p": "p.Gly61Val",
"transcript": "NM_001369037.1",
"protein_id": "NP_001355966.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 495,
"cds_start": 182,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 5375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.182G>T",
"hgvs_p": "p.Gly61Val",
"transcript": "NM_001369038.1",
"protein_id": "NP_001355967.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 495,
"cds_start": 182,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.182G>T",
"hgvs_p": "p.Gly61Val",
"transcript": "ENST00000374872.4",
"protein_id": "ENSP00000364006.1",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 495,
"cds_start": 182,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.182G>T",
"hgvs_p": "p.Gly61Val",
"transcript": "ENST00000624210.3",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}