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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: 12-113226826-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=113226826&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 113226826,
"ref": "A",
"alt": "G",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "ENST00000335509.11",
"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": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "c.-27A>G",
"hgvs_p": null,
"transcript": "NM_017901.6",
"protein_id": "NP_060371.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 816,
"cds_start": -4,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5248,
"mane_select": "ENST00000335509.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "c.-27A>G",
"hgvs_p": null,
"transcript": "ENST00000335509.11",
"protein_id": "ENSP00000335300.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 816,
"cds_start": -4,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5248,
"mane_select": "NM_017901.6",
"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": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "c.-27A>G",
"hgvs_p": null,
"transcript": "NM_017901.6",
"protein_id": "NP_060371.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 816,
"cds_start": -4,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5248,
"mane_select": "ENST00000335509.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "c.-27A>G",
"hgvs_p": null,
"transcript": "ENST00000335509.11",
"protein_id": "ENSP00000335300.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 816,
"cds_start": -4,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5248,
"mane_select": "NM_017901.6",
"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": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "c.-492A>G",
"hgvs_p": null,
"transcript": "NM_001351346.2",
"protein_id": "NP_001338275.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 748,
"cds_start": -4,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5509,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "c.-27A>G",
"hgvs_p": null,
"transcript": "ENST00000549279.1",
"protein_id": "ENSP00000448704.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": -4,
"cds_end": null,
"cds_length": 299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 544,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "c.-27A>G",
"hgvs_p": null,
"transcript": "ENST00000551099.5",
"protein_id": "ENSP00000447181.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": -4,
"cds_end": null,
"cds_length": 299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 570,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "c.-27A>G",
"hgvs_p": null,
"transcript": "ENST00000550873.5",
"protein_id": "ENSP00000447073.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 84,
"cds_start": -4,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 527,
"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": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "c.-27A>G",
"hgvs_p": null,
"transcript": "XM_011538492.3",
"protein_id": "XP_011536794.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 816,
"cds_start": -4,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5205,
"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": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "c.-27A>G",
"hgvs_p": null,
"transcript": "XM_047429011.1",
"protein_id": "XP_047284967.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 798,
"cds_start": -4,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5151,
"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": 1,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "c.-27A>G",
"hgvs_p": null,
"transcript": "XM_047429016.1",
"protein_id": "XP_047284972.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 569,
"cds_start": -4,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1929,
"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": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Ile64Val",
"transcript": "NM_001143819.3",
"protein_id": "NP_001137291.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 888,
"cds_start": 190,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 5341,
"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": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Ile64Val",
"transcript": "ENST00000541517.5",
"protein_id": "ENSP00000438125.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 888,
"cds_start": 190,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 5173,
"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": 3,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Ile64Val",
"transcript": "ENST00000550785.5",
"protein_id": "ENSP00000448083.1",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 888,
"cds_start": 190,
"cds_end": null,
"cds_length": 2667,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 5345,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "c.232A>G",
"hgvs_p": "p.Ile78Val",
"transcript": "ENST00000552985.5",
"protein_id": "ENSP00000447569.1",
"transcript_support_level": 3,
"aa_start": 78,
"aa_end": null,
"aa_length": 214,
"cds_start": 232,
"cds_end": null,
"cds_length": 645,
"cdna_start": 349,
"cdna_end": null,
"cdna_length": 762,
"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": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "c.139A>G",
"hgvs_p": "p.Ile47Val",
"transcript": "ENST00000547275.5",
"protein_id": "ENSP00000449560.1",
"transcript_support_level": 4,
"aa_start": 47,
"aa_end": null,
"aa_length": 146,
"cds_start": 139,
"cds_end": null,
"cds_length": 441,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 564,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Ile64Val",
"transcript": "ENST00000551096.5",
"protein_id": "ENSP00000447263.1",
"transcript_support_level": 4,
"aa_start": 64,
"aa_end": null,
"aa_length": 123,
"cds_start": 190,
"cds_end": null,
"cds_length": 373,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 530,
"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": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "c.190A>G",
"hgvs_p": "p.Ile64Val",
"transcript": "XM_017019480.3",
"protein_id": "XP_016874969.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 870,
"cds_start": 190,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 5287,
"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": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "n.240A>G",
"hgvs_p": null,
"transcript": "ENST00000552077.5",
"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": 3293,
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "n.99A>G",
"hgvs_p": null,
"transcript": "XR_001748766.3",
"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": 2154,
"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": 2,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "c.-492A>G",
"hgvs_p": null,
"transcript": "NM_001351346.2",
"protein_id": "NP_001338275.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 748,
"cds_start": -4,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5509,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "c.-27A>G",
"hgvs_p": null,
"transcript": "ENST00000549279.1",
"protein_id": "ENSP00000448704.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": -4,
"cds_end": null,
"cds_length": 299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 544,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPCN1",
"gene_hgnc_id": 18182,
"hgvs_c": "c.-27A>G",
"hgvs_p": null,
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},
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{
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],
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{
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],
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},
{
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],
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}
],
"gene_symbol": "TPCN1",
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"dbsnp": "rs1260984625",
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"hom_count_reference_population": 0,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0458453893661499,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.022,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.72,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.241,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
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{
"score": -2,
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"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
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"gene_symbol": "TPCN1",
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"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AR",
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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",
"custom_annotations": null
}
],
"message": null
}