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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: 3-9810179-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9810179&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9810179,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001025930.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARPC4-TTLL3",
"gene_hgnc_id": 38830,
"hgvs_c": "c.331-2764G>A",
"hgvs_p": null,
"transcript": "ENST00000397256.5",
"protein_id": "ENSP00000380427.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": null,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397256.5"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "n.-483G>A",
"hgvs_p": null,
"transcript": "ENST00000427220.5",
"protein_id": "ENSP00000395912.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3233,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000427220.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "n.-483G>A",
"hgvs_p": null,
"transcript": "ENST00000427220.5",
"protein_id": "ENSP00000395912.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3233,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000427220.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.173G>A",
"hgvs_p": "p.Arg58His",
"transcript": "NM_001025930.5",
"protein_id": "NP_001021100.3",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 915,
"cds_start": 173,
"cds_end": null,
"cds_length": 2748,
"cdna_start": 265,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025930.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.-257G>A",
"hgvs_p": null,
"transcript": "ENST00000426895.10",
"protein_id": "ENSP00000392549.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 772,
"cds_start": null,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426895.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.-42+257G>A",
"hgvs_p": null,
"transcript": "ENST00000703870.1",
"protein_id": "ENSP00000515513.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 680,
"cds_start": null,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703870.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.-42+257G>A",
"hgvs_p": null,
"transcript": "NM_001387448.1",
"protein_id": "NP_001374377.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 679,
"cds_start": null,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3821,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387448.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ARPC4-TTLL3",
"gene_hgnc_id": 38830,
"hgvs_c": "c.331-2764G>A",
"hgvs_p": null,
"transcript": "NM_001198793.1",
"protein_id": "NP_001185722.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 625,
"cds_start": null,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3987,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198793.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.-42+257G>A",
"hgvs_p": null,
"transcript": "NM_001387454.1",
"protein_id": "NP_001374383.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 607,
"cds_start": null,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3605,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387454.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.-42+331G>A",
"hgvs_p": null,
"transcript": "NM_001387455.1",
"protein_id": "NP_001374384.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 607,
"cds_start": null,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387455.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.-42+415G>A",
"hgvs_p": null,
"transcript": "NM_001387459.1",
"protein_id": "NP_001374388.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 574,
"cds_start": null,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3348,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387459.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.-42+257G>A",
"hgvs_p": null,
"transcript": "NM_001387460.1",
"protein_id": "NP_001374389.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 574,
"cds_start": null,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3506,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387460.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.-42+415G>A",
"hgvs_p": null,
"transcript": "NM_001387464.1",
"protein_id": "NP_001374393.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 518,
"cds_start": null,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387464.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.-42+257G>A",
"hgvs_p": null,
"transcript": "NM_001387465.1",
"protein_id": "NP_001374394.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 518,
"cds_start": null,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3338,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387465.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.-945+415G>A",
"hgvs_p": null,
"transcript": "NM_001387467.1",
"protein_id": "NP_001374396.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": null,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3804,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387467.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ARPC4-TTLL3",
"gene_hgnc_id": 38830,
"hgvs_c": "c.403-2764G>A",
"hgvs_p": null,
"transcript": "ENST00000453882.1",
"protein_id": "ENSP00000393764.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 165,
"cds_start": null,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453882.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.-42+415G>A",
"hgvs_p": null,
"transcript": "ENST00000417065.5",
"protein_id": "ENSP00000408128.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 159,
"cds_start": null,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 565,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000417065.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.-42+415G>A",
"hgvs_p": null,
"transcript": "ENST00000438596.5",
"protein_id": "ENSP00000414965.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 150,
"cds_start": null,
"cds_end": null,
"cds_length": 455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438596.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.-42+257G>A",
"hgvs_p": null,
"transcript": "ENST00000430718.5",
"protein_id": "ENSP00000402197.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430718.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.-41-442G>A",
"hgvs_p": null,
"transcript": "ENST00000452597.5",
"protein_id": "ENSP00000399782.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 139,
"cds_start": null,
"cds_end": null,
"cds_length": 421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452597.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.-42+308G>A",
"hgvs_p": null,
"transcript": "ENST00000418745.5",
"protein_id": "ENSP00000400462.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 121,
"cds_start": null,
"cds_end": null,
"cds_length": 367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418745.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.-42+331G>A",
"hgvs_p": null,
"transcript": "ENST00000439814.5",
"protein_id": "ENSP00000394481.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": null,
"cds_end": null,
"cds_length": 347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439814.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
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"splice_prediction_selected": "Benign",
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{
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"verdict": "Uncertain_significance",
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{
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],
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}