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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-63678480-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=63678480&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 63678480,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000671741.2",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.675G>A",
"hgvs_p": "p.Gln225Gln",
"transcript": "NM_001353921.2",
"protein_id": "NP_001340850.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 523,
"cds_start": 675,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 4702,
"mane_select": "ENST00000671741.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.675G>A",
"hgvs_p": "p.Gln225Gln",
"transcript": "ENST00000671741.2",
"protein_id": "ENSP00000500715.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 523,
"cds_start": 675,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 744,
"cdna_end": null,
"cdna_length": 4702,
"mane_select": "NM_001353921.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gln218Gln",
"transcript": "ENST00000253401.10",
"protein_id": "ENSP00000253401.6",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 516,
"cds_start": 654,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1455,
"cdna_end": null,
"cdna_length": 5413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.675G>A",
"hgvs_p": "p.Gln225Gln",
"transcript": "ENST00000374878.5",
"protein_id": "ENSP00000364012.2",
"transcript_support_level": 1,
"aa_start": 225,
"aa_end": null,
"aa_length": 487,
"cds_start": 675,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 2217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.348G>A",
"hgvs_p": "p.Gln116Gln",
"transcript": "ENST00000624843.3",
"protein_id": "ENSP00000485626.1",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 414,
"cds_start": 348,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 2154,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gln218Gln",
"transcript": "ENST00000374870.8",
"protein_id": "ENSP00000364004.5",
"transcript_support_level": 5,
"aa_start": 218,
"aa_end": null,
"aa_length": 564,
"cds_start": 654,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 4644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.693G>A",
"hgvs_p": "p.Gln231Gln",
"transcript": "NM_001353923.1",
"protein_id": "NP_001340852.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 529,
"cds_start": 693,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 4662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.693G>A",
"hgvs_p": "p.Gln231Gln",
"transcript": "ENST00000635729.1",
"protein_id": "ENSP00000490940.1",
"transcript_support_level": 5,
"aa_start": 231,
"aa_end": null,
"aa_length": 529,
"cds_start": 693,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gln218Gln",
"transcript": "NM_001369030.1",
"protein_id": "NP_001355959.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 516,
"cds_start": 654,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 5179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gln218Gln",
"transcript": "NM_001369031.1",
"protein_id": "NP_001355960.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 516,
"cds_start": 654,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 5175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gln218Gln",
"transcript": "NM_001369032.1",
"protein_id": "NP_001355961.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 516,
"cds_start": 654,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 5419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gln218Gln",
"transcript": "NM_015185.3",
"protein_id": "NP_056000.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 516,
"cds_start": 654,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1465,
"cdna_end": null,
"cdna_length": 5423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.654G>A",
"hgvs_p": "p.Gln218Gln",
"transcript": "ENST00000671907.1",
"protein_id": "ENSP00000500829.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 516,
"cds_start": 654,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1176,
"cdna_end": null,
"cdna_length": 5117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.591G>A",
"hgvs_p": "p.Gln197Gln",
"transcript": "ENST00000638021.1",
"protein_id": "ENSP00000490410.1",
"transcript_support_level": 5,
"aa_start": 197,
"aa_end": null,
"aa_length": 506,
"cds_start": 591,
"cds_end": null,
"cds_length": 1521,
"cdna_start": 1086,
"cdna_end": null,
"cdna_length": 3876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.591G>A",
"hgvs_p": "p.Gln197Gln",
"transcript": "NM_001330495.2",
"protein_id": "NP_001317424.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 495,
"cds_start": 591,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 4779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.591G>A",
"hgvs_p": "p.Gln197Gln",
"transcript": "NM_001369033.1",
"protein_id": "NP_001355962.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 495,
"cds_start": 591,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1454,
"cdna_end": null,
"cdna_length": 5412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.591G>A",
"hgvs_p": "p.Gln197Gln",
"transcript": "NM_001369034.1",
"protein_id": "NP_001355963.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 495,
"cds_start": 591,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 5168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.591G>A",
"hgvs_p": "p.Gln197Gln",
"transcript": "NM_001369035.1",
"protein_id": "NP_001355964.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 495,
"cds_start": 591,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 848,
"cdna_end": null,
"cdna_length": 4806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.591G>A",
"hgvs_p": "p.Gln197Gln",
"transcript": "NM_001369036.1",
"protein_id": "NP_001355965.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 495,
"cds_start": 591,
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"cds_length": 1488,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 5490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.591G>A",
"hgvs_p": "p.Gln197Gln",
"transcript": "NM_001369037.1",
"protein_id": "NP_001355966.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 495,
"cds_start": 591,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1417,
"cdna_end": null,
"cdna_length": 5375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.591G>A",
"hgvs_p": "p.Gln197Gln",
"transcript": "NM_001369038.1",
"protein_id": "NP_001355967.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 495,
"cds_start": 591,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 4708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.591G>A",
"hgvs_p": "p.Gln197Gln",
"transcript": "ENST00000374872.4",
"protein_id": "ENSP00000364006.1",
"transcript_support_level": 2,
"aa_start": 197,
"aa_end": null,
"aa_length": 495,
"cds_start": 591,
"cds_end": null,
"cds_length": 1488,
"cdna_start": 1421,
"cdna_end": null,
"cdna_length": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
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"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3 B:2",
"phenotype_combined": "not provided|not specified|Developmental and epileptic encephalopathy, 8|Inborn genetic diseases|ARHGEF9-related disorder",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
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}
],
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}