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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: 12-110642292-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=110642292&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 110642292,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000397659.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.1234A>G",
"hgvs_p": "p.Ile412Val",
"transcript": "NM_001082538.3",
"protein_id": "NP_001076007.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 592,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": "ENST00000397659.9",
"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": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.1234A>G",
"hgvs_p": "p.Ile412Val",
"transcript": "ENST00000397659.9",
"protein_id": "ENSP00000380779.4",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 592,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 2222,
"mane_select": "NM_001082538.3",
"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": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.1234A>G",
"hgvs_p": "p.Ile412Val",
"transcript": "ENST00000551590.5",
"protein_id": "ENSP00000448735.1",
"transcript_support_level": 1,
"aa_start": 412,
"aa_end": null,
"aa_length": 587,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 2309,
"mane_select": null,
"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": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.1192A>G",
"hgvs_p": "p.Ile398Val",
"transcript": "ENST00000397655.7",
"protein_id": "ENSP00000380775.3",
"transcript_support_level": 1,
"aa_start": 398,
"aa_end": null,
"aa_length": 573,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "n.*867A>G",
"hgvs_p": null,
"transcript": "ENST00000397656.8",
"protein_id": "ENSP00000380776.4",
"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": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "n.*510A>G",
"hgvs_p": null,
"transcript": "ENST00000480648.5",
"protein_id": "ENSP00000437196.1",
"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": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "n.*992A>G",
"hgvs_p": null,
"transcript": "ENST00000495659.6",
"protein_id": "ENSP00000436673.2",
"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": 1988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "n.*867A>G",
"hgvs_p": null,
"transcript": "ENST00000397656.8",
"protein_id": "ENSP00000380776.4",
"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": 2098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "n.*510A>G",
"hgvs_p": null,
"transcript": "ENST00000480648.5",
"protein_id": "ENSP00000437196.1",
"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": 1891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "n.*992A>G",
"hgvs_p": null,
"transcript": "ENST00000495659.6",
"protein_id": "ENSP00000436673.2",
"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": 1988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "n.*1157+1143A>G",
"hgvs_p": null,
"transcript": "ENST00000464809.5",
"protein_id": "ENSP00000435027.1",
"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": 1996,
"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": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.1234A>G",
"hgvs_p": "p.Ile412Val",
"transcript": "NM_001082537.3",
"protein_id": "NP_001076006.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 587,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1764,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 2207,
"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": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.1192A>G",
"hgvs_p": "p.Ile398Val",
"transcript": "NM_024549.6",
"protein_id": "NP_078825.2",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 573,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1722,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 2165,
"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": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Ile356Val",
"transcript": "NM_001173975.3",
"protein_id": "NP_001167446.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 531,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 2268,
"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": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.700A>G",
"hgvs_p": "p.Ile234Val",
"transcript": "NM_001319681.2",
"protein_id": "NP_001306610.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 409,
"cds_start": 700,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1461,
"cdna_end": null,
"cdna_length": 2380,
"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": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.1192A>G",
"hgvs_p": "p.Ile398Val",
"transcript": "XM_011538733.4",
"protein_id": "XP_011537035.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 578,
"cds_start": 1192,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1246,
"cdna_end": null,
"cdna_length": 2180,
"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": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.1174A>G",
"hgvs_p": "p.Ile392Val",
"transcript": "XM_011538734.4",
"protein_id": "XP_011537036.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 572,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1719,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 2162,
"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": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.1066A>G",
"hgvs_p": "p.Ile356Val",
"transcript": "XM_006719594.4",
"protein_id": "XP_006719657.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 536,
"cds_start": 1066,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 2283,
"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": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.1234A>G",
"hgvs_p": "p.Ile412Val",
"transcript": "XM_047429537.1",
"protein_id": "XP_047285493.1",
"transcript_support_level": null,
"aa_start": 412,
"aa_end": null,
"aa_length": 513,
"cds_start": 1234,
"cds_end": null,
"cds_length": 1542,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 1688,
"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": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.700A>G",
"hgvs_p": "p.Ile234Val",
"transcript": "XM_006719595.4",
"protein_id": "XP_006719658.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 414,
"cds_start": 700,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 2379,
"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": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.700A>G",
"hgvs_p": "p.Ile234Val",
"transcript": "XM_006719597.5",
"protein_id": "XP_006719660.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 414,
"cds_start": 700,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1167,
"cdna_end": null,
"cdna_length": 2101,
"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": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.700A>G",
"hgvs_p": "p.Ile234Val",
"transcript": "XM_006719598.4",
"protein_id": "XP_006719661.1",
"transcript_support_level": null,
"aa_start": 234,
"aa_end": null,
"aa_length": 414,
"cds_start": 700,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 994,
"cdna_end": null,
"cdna_length": 1928,
"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": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCTN1",
"gene_hgnc_id": 26113,
"hgvs_c": "c.700A>G",
"hgvs_p": "p.Ile234Val",
"transcript": "XM_006719600.4",
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"BS2"
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{
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}
],
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}