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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: 3-9829346-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9829346&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 9829346,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001025930.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.1634T>A",
"hgvs_p": "p.Met545Lys",
"transcript": "NM_001387446.1",
"protein_id": "NP_001374375.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 815,
"cds_start": 1634,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000685419.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387446.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.1634T>A",
"hgvs_p": "p.Met545Lys",
"transcript": "ENST00000685419.1",
"protein_id": "ENSP00000510679.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 815,
"cds_start": 1634,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001387446.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685419.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC4-TTLL3",
"gene_hgnc_id": 38830,
"hgvs_c": "c.1688T>A",
"hgvs_p": "p.Met563Lys",
"transcript": "ENST00000397256.5",
"protein_id": "ENSP00000380427.1",
"transcript_support_level": 5,
"aa_start": 563,
"aa_end": null,
"aa_length": 625,
"cds_start": 1688,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397256.5"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.1370T>A",
"hgvs_p": "p.Met457Lys",
"transcript": "ENST00000310252.11",
"protein_id": "ENSP00000312148.7",
"transcript_support_level": 1,
"aa_start": 457,
"aa_end": null,
"aa_length": 519,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000310252.11"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.869T>A",
"hgvs_p": "p.Met290Lys",
"transcript": "ENST00000383827.5",
"protein_id": "ENSP00000373338.1",
"transcript_support_level": 1,
"aa_start": 290,
"aa_end": null,
"aa_length": 352,
"cds_start": 869,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383827.5"
},
{
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "n.*1121T>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": null,
"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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "n.*732T>A",
"hgvs_p": null,
"transcript": "ENST00000430390.5",
"protein_id": "ENSP00000396606.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000430390.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "n.*1121T>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": null,
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "n.*732T>A",
"hgvs_p": null,
"transcript": "ENST00000430390.5",
"protein_id": "ENSP00000396606.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000430390.5"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.1934T>A",
"hgvs_p": "p.Met645Lys",
"transcript": "NM_001025930.5",
"protein_id": "NP_001021100.3",
"transcript_support_level": null,
"aa_start": 645,
"aa_end": null,
"aa_length": 915,
"cds_start": 1934,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001025930.5"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.1505T>A",
"hgvs_p": "p.Met502Lys",
"transcript": "NM_001366051.2",
"protein_id": "NP_001352980.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 772,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366051.2"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.1505T>A",
"hgvs_p": "p.Met502Lys",
"transcript": "ENST00000426895.10",
"protein_id": "ENSP00000392549.5",
"transcript_support_level": 2,
"aa_start": 502,
"aa_end": null,
"aa_length": 772,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426895.10"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.1466T>A",
"hgvs_p": "p.Met489Lys",
"transcript": "NM_001387447.1",
"protein_id": "NP_001374376.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 730,
"cds_start": 1466,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387447.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.1634T>A",
"hgvs_p": "p.Met545Lys",
"transcript": "ENST00000703870.1",
"protein_id": "ENSP00000515513.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 680,
"cds_start": 1634,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703870.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.1505T>A",
"hgvs_p": "p.Met502Lys",
"transcript": "NM_001387448.1",
"protein_id": "NP_001374377.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 679,
"cds_start": 1505,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387448.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.1634T>A",
"hgvs_p": "p.Met545Lys",
"transcript": "ENST00000715597.1",
"protein_id": "ENSP00000520491.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 654,
"cds_start": 1634,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000715597.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.1505T>A",
"hgvs_p": "p.Met502Lys",
"transcript": "NM_001387449.1",
"protein_id": "NP_001374378.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 646,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387449.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARPC4-TTLL3",
"gene_hgnc_id": 38830,
"hgvs_c": "c.1688T>A",
"hgvs_p": "p.Met563Lys",
"transcript": "NM_001198793.1",
"protein_id": "NP_001185722.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 625,
"cds_start": 1688,
"cds_end": null,
"cds_length": 1878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001198793.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.1679T>A",
"hgvs_p": "p.Met560Lys",
"transcript": "NM_001387450.1",
"protein_id": "NP_001374379.1",
"transcript_support_level": null,
"aa_start": 560,
"aa_end": null,
"aa_length": 622,
"cds_start": 1679,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387450.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.1535T>A",
"hgvs_p": "p.Met512Lys",
"transcript": "NM_001387451.1",
"protein_id": "NP_001374380.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 621,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1866,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387451.1"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.1319T>A",
"hgvs_p": "p.Met440Lys",
"transcript": "ENST00000443148.5",
"protein_id": "ENSP00000398097.1",
"transcript_support_level": 2,
"aa_start": 440,
"aa_end": null,
"aa_length": 619,
"cds_start": 1319,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443148.5"
},
{
"aa_ref": "M",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTLL3",
"gene_hgnc_id": 24483,
"hgvs_c": "c.1406T>A",
"hgvs_p": "p.Met469Lys",
"transcript": "NM_001387452.1",
"protein_id": "NP_001374381.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 616,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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],
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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{
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"verdict": "Likely_benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}