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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-63724693-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=63724693&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 63724693,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000671741.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ile17Val",
"transcript": "NM_001353921.2",
"protein_id": "NP_001340850.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 523,
"cds_start": 49,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 118,
"cdna_end": null,
"cdna_length": 4702,
"mane_select": "ENST00000671741.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ile17Val",
"transcript": "ENST00000671741.2",
"protein_id": "ENSP00000500715.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 523,
"cds_start": 49,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 118,
"cdna_end": null,
"cdna_length": 4702,
"mane_select": "NM_001353921.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.28A>G",
"hgvs_p": "p.Ile10Val",
"transcript": "ENST00000253401.10",
"protein_id": "ENSP00000253401.6",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 516,
"cds_start": 28,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 829,
"cdna_end": null,
"cdna_length": 5413,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ile17Val",
"transcript": "ENST00000374878.5",
"protein_id": "ENSP00000364012.2",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 487,
"cds_start": 49,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 450,
"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": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.-117-18244A>G",
"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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.28A>G",
"hgvs_p": "p.Ile10Val",
"transcript": "ENST00000374870.8",
"protein_id": "ENSP00000364004.5",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 564,
"cds_start": 28,
"cds_end": null,
"cds_length": 1695,
"cdna_start": 805,
"cdna_end": null,
"cdna_length": 4644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.67A>G",
"hgvs_p": "p.Ile23Val",
"transcript": "NM_001353923.1",
"protein_id": "NP_001340852.1",
"transcript_support_level": null,
"aa_start": 23,
"aa_end": null,
"aa_length": 529,
"cds_start": 67,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 4662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.67A>G",
"hgvs_p": "p.Ile23Val",
"transcript": "ENST00000635729.1",
"protein_id": "ENSP00000490940.1",
"transcript_support_level": 5,
"aa_start": 23,
"aa_end": null,
"aa_length": 529,
"cds_start": 67,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 78,
"cdna_end": null,
"cdna_length": 1761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"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.28A>G",
"hgvs_p": "p.Ile10Val",
"transcript": "NM_001369030.1",
"protein_id": "NP_001355959.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 516,
"cds_start": 28,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 5179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"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.28A>G",
"hgvs_p": "p.Ile10Val",
"transcript": "NM_001369031.1",
"protein_id": "NP_001355960.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 516,
"cds_start": 28,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 591,
"cdna_end": null,
"cdna_length": 5175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.28A>G",
"hgvs_p": "p.Ile10Val",
"transcript": "NM_001369032.1",
"protein_id": "NP_001355961.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 516,
"cds_start": 28,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 5419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.28A>G",
"hgvs_p": "p.Ile10Val",
"transcript": "NM_015185.3",
"protein_id": "NP_056000.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 516,
"cds_start": 28,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 5423,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"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.28A>G",
"hgvs_p": "p.Ile10Val",
"transcript": "ENST00000671907.1",
"protein_id": "ENSP00000500829.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 516,
"cds_start": 28,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 550,
"cdna_end": null,
"cdna_length": 5117,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.49A>G",
"hgvs_p": "p.Ile17Val",
"transcript": "ENST00000437457.6",
"protein_id": "ENSP00000399994.3",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 483,
"cds_start": 49,
"cds_end": null,
"cds_length": 1452,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.49A>G",
"hgvs_p": "p.Ile17Val",
"transcript": "NM_001353922.2",
"protein_id": "NP_001340851.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 479,
"cds_start": 49,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 118,
"cdna_end": null,
"cdna_length": 4570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.28A>G",
"hgvs_p": "p.Ile10Val",
"transcript": "NM_001353928.2",
"protein_id": "NP_001340857.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 472,
"cds_start": 28,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 5291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"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.28A>G",
"hgvs_p": "p.Ile10Val",
"transcript": "ENST00000636926.1",
"protein_id": "ENSP00000490667.1",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 458,
"cds_start": 28,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 599,
"cdna_end": null,
"cdna_length": 5436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "n.28A>G",
"hgvs_p": null,
"transcript": "ENST00000495564.5",
"protein_id": "ENSP00000485633.1",
"transcript_support_level": 2,
"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": 2556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "n.199A>G",
"hgvs_p": null,
"transcript": "ENST00000624387.3",
"protein_id": null,
"transcript_support_level": 3,
"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": 547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "n.-36A>G",
"hgvs_p": null,
"transcript": "ENST00000636102.1",
"protein_id": "ENSP00000490693.1",
"transcript_support_level": 5,
"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": 2112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "n.-36A>G",
"hgvs_p": null,
"transcript": "ENST00000639092.1",
"protein_id": "ENSP00000492318.1",
"transcript_support_level": 5,
"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": 4657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "n.118A>G",
"hgvs_p": null,
"transcript": "ENST00000672467.1",
"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": 7173,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF9",
"gene_hgnc_id": 14561,
"hgvs_c": "c.-36A>G",
"hgvs_p": null,
"transcript": "ENST00000638021.1",
"protein_id": "ENSP00000490410.1",
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
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}
],
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}