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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: 10-24219742-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=24219742&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 24219742,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_019590.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.-54A>G",
"hgvs_p": null,
"transcript": "ENST00000376462.5",
"protein_id": "ENSP00000365645.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1264,
"cds_start": -4,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "NM_019590.5",
"protein_id": "NP_062536.2",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 1943,
"cds_start": 187,
"cds_end": null,
"cds_length": 5832,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 7407,
"mane_select": "ENST00000376454.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "ENST00000376454.8",
"protein_id": "ENSP00000365637.3",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 1943,
"cds_start": 187,
"cds_end": null,
"cds_length": 5832,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 7407,
"mane_select": "NM_019590.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "ENST00000376452.7",
"protein_id": "ENSP00000365635.3",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 1374,
"cds_start": 187,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 6052,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "ENST00000458595.5",
"protein_id": "ENSP00000392625.1",
"transcript_support_level": 1,
"aa_start": 63,
"aa_end": null,
"aa_length": 1349,
"cds_start": 187,
"cds_end": null,
"cds_length": 4050,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 5977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.-54A>G",
"hgvs_p": null,
"transcript": "ENST00000376462.5",
"protein_id": "ENSP00000365645.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1264,
"cds_start": -4,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.-54A>G",
"hgvs_p": null,
"transcript": "NM_001098500.3",
"protein_id": "NP_001091970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1264,
"cds_start": -4,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.-54A>G",
"hgvs_p": null,
"transcript": "ENST00000430453.6",
"protein_id": "ENSP00000389680.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1264,
"cds_start": -4,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "NM_001282767.2",
"protein_id": "NP_001269696.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 1374,
"cds_start": 187,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 5700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "NM_001282768.2",
"protein_id": "NP_001269697.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 1349,
"cds_start": 187,
"cds_end": null,
"cds_length": 4050,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 5625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "ENST00000376456.8",
"protein_id": "ENSP00000365639.4",
"transcript_support_level": 5,
"aa_start": 63,
"aa_end": null,
"aa_length": 932,
"cds_start": 187,
"cds_end": null,
"cds_length": 2800,
"cdna_start": 590,
"cdna_end": null,
"cdna_length": 3203,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "ENST00000635504.1",
"protein_id": "ENSP00000489052.1",
"transcript_support_level": 4,
"aa_start": 63,
"aa_end": null,
"aa_length": 179,
"cds_start": 187,
"cds_end": null,
"cds_length": 541,
"cdna_start": 214,
"cdna_end": null,
"cdna_length": 568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.328A>G",
"hgvs_p": "p.Ile110Val",
"transcript": "ENST00000636305.1",
"protein_id": "ENSP00000489926.1",
"transcript_support_level": 5,
"aa_start": 110,
"aa_end": null,
"aa_length": 164,
"cds_start": 328,
"cds_end": null,
"cds_length": 495,
"cdna_start": 482,
"cdna_end": null,
"cdna_length": 649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "XM_047425494.1",
"protein_id": "XP_047281450.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": 187,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "XM_047425495.1",
"protein_id": "XP_047281451.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 1932,
"cds_start": 187,
"cds_end": null,
"cds_length": 5799,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 7374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "XM_017016417.2",
"protein_id": "XP_016871906.1",
"transcript_support_level": null,
"aa_start": 63,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "XM_047425496.1",
"protein_id": "XP_047281452.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 1907,
"cds_start": 187,
"cds_end": null,
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"cdna_start": 243,
"cdna_end": null,
"cdna_length": 7299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "XM_047425497.1",
"protein_id": "XP_047281453.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 1903,
"cds_start": 187,
"cds_end": null,
"cds_length": 5712,
"cdna_start": 243,
"cdna_end": null,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "I",
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "XM_047425498.1",
"protein_id": "XP_047281454.1",
"transcript_support_level": null,
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"aa_end": null,
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"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "XM_047425499.1",
"protein_id": "XP_047281455.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 1868,
"cds_start": 187,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "I",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "XM_047425500.1",
"protein_id": "XP_047281456.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 1867,
"cds_start": 187,
"cds_end": null,
"cds_length": 5604,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 7179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.187A>G",
"hgvs_p": "p.Ile63Val",
"transcript": "XM_047425504.1",
"protein_id": "XP_047281460.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 1741,
"cds_start": 187,
"cds_end": null,
"cds_length": 5226,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 8007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KIAA1217",
"gene_hgnc_id": 25428,
"hgvs_c": "c.187A>G",
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"bayesdelnoaf_score": -0.54,
"bayesdelnoaf_prediction": "Benign",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}