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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: 20-45897736-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=45897736&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 45897736,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000646241.3",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Tyr395Cys",
"transcript": "NM_000308.4",
"protein_id": "NP_000299.3",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 480,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": "ENST00000646241.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Tyr395Cys",
"transcript": "ENST00000646241.3",
"protein_id": "ENSP00000493613.2",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 480,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1229,
"cdna_end": null,
"cdna_length": 1858,
"mane_select": "NM_000308.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1238A>G",
"hgvs_p": "p.Tyr413Cys",
"transcript": "ENST00000372484.8",
"protein_id": "ENSP00000361562.3",
"transcript_support_level": 1,
"aa_start": 413,
"aa_end": null,
"aa_length": 498,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 2310,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Tyr395Cys",
"transcript": "ENST00000191018.9",
"protein_id": "ENSP00000191018.5",
"transcript_support_level": 1,
"aa_start": 395,
"aa_end": null,
"aa_length": 480,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 1898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Tyr395Cys",
"transcript": "ENST00000372459.7",
"protein_id": "ENSP00000361537.2",
"transcript_support_level": 1,
"aa_start": 395,
"aa_end": null,
"aa_length": 480,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1367,
"cdna_end": null,
"cdna_length": 1996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "n.3741A>G",
"hgvs_p": null,
"transcript": "ENST00000484855.4",
"protein_id": null,
"transcript_support_level": 1,
"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": 4697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1238A>G",
"hgvs_p": "p.Tyr413Cys",
"transcript": "ENST00000677394.1",
"protein_id": "ENSP00000504790.1",
"transcript_support_level": null,
"aa_start": 413,
"aa_end": null,
"aa_length": 498,
"cds_start": 1238,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 2164,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Tyr395Cys",
"transcript": "NM_001127695.3",
"protein_id": "NP_001121167.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 480,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Tyr395Cys",
"transcript": "ENST00000607482.6",
"protein_id": "ENSP00000475524.2",
"transcript_support_level": 3,
"aa_start": 395,
"aa_end": null,
"aa_length": 480,
"cds_start": 1184,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "NM_001167594.3",
"protein_id": "NP_001161066.2",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 463,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "c.1133A>G",
"hgvs_p": "p.Tyr378Cys",
"transcript": "ENST00000354880.9",
"protein_id": "ENSP00000346952.5",
"transcript_support_level": 2,
"aa_start": 378,
"aa_end": null,
"aa_length": 463,
"cds_start": 1133,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 1820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "n.5123A>G",
"hgvs_p": null,
"transcript": "ENST00000480961.3",
"protein_id": null,
"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": 6079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "n.1551A>G",
"hgvs_p": null,
"transcript": "ENST00000493522.8",
"protein_id": null,
"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": 2309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "n.111A>G",
"hgvs_p": null,
"transcript": "ENST00000606000.1",
"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": 644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "n.1675A>G",
"hgvs_p": null,
"transcript": "ENST00000606066.3",
"protein_id": null,
"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": 2433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "n.1305A>G",
"hgvs_p": null,
"transcript": "ENST00000606782.3",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "n.*549A>G",
"hgvs_p": null,
"transcript": "ENST00000606788.5",
"protein_id": "ENSP00000476235.1",
"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": 3056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "n.4108A>G",
"hgvs_p": null,
"transcript": "ENST00000607187.3",
"protein_id": null,
"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": 4866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "n.1395A>G",
"hgvs_p": null,
"transcript": "ENST00000607212.3",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "n.2935A>G",
"hgvs_p": null,
"transcript": "ENST00000607814.7",
"protein_id": null,
"transcript_support_level": 4,
"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": 3693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "n.*577A>G",
"hgvs_p": null,
"transcript": "ENST00000676967.1",
"protein_id": "ENSP00000502866.1",
"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": 2069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "n.*1007A>G",
"hgvs_p": null,
"transcript": "ENST00000677525.1",
"protein_id": "ENSP00000504197.1",
"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": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSA",
"gene_hgnc_id": 9251,
"hgvs_c": "n.1604A>G",
"hgvs_p": null,
"transcript": "ENST00000677755.2",
"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,
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"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1184A>G",
"hgvs_p": "p.Tyr395Cys"
}
],
"clinvar_disease": "Combined deficiency of sialidase AND beta galactosidase,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Combined deficiency of sialidase AND beta galactosidase|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}