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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: 9-120411373-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=120411373&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 120411373,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000349780.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4399A>C",
"hgvs_p": "p.Ile1467Leu",
"transcript": "NM_018249.6",
"protein_id": "NP_060719.4",
"transcript_support_level": null,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1893,
"cds_start": 4399,
"cds_end": null,
"cds_length": 5682,
"cdna_start": 4588,
"cdna_end": null,
"cdna_length": 6232,
"mane_select": "ENST00000349780.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4399A>C",
"hgvs_p": "p.Ile1467Leu",
"transcript": "ENST00000349780.9",
"protein_id": "ENSP00000343818.4",
"transcript_support_level": 1,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1893,
"cds_start": 4399,
"cds_end": null,
"cds_length": 5682,
"cdna_start": 4588,
"cdna_end": null,
"cdna_length": 6232,
"mane_select": "NM_018249.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4399A>C",
"hgvs_p": "p.Ile1467Leu",
"transcript": "ENST00000360190.8",
"protein_id": "ENSP00000353317.4",
"transcript_support_level": 1,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1814,
"cds_start": 4399,
"cds_end": null,
"cds_length": 5445,
"cdna_start": 4579,
"cdna_end": null,
"cdna_length": 5985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.*3223A>C",
"hgvs_p": null,
"transcript": "ENST00000473282.6",
"protein_id": "ENSP00000419265.1",
"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": 5956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.*2226A>C",
"hgvs_p": null,
"transcript": "ENST00000480112.5",
"protein_id": "ENSP00000418418.1",
"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": 5826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.3707A>C",
"hgvs_p": null,
"transcript": "ENST00000483412.5",
"protein_id": null,
"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": 6235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.*3223A>C",
"hgvs_p": null,
"transcript": "ENST00000473282.6",
"protein_id": "ENSP00000419265.1",
"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": 5956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "n.*2226A>C",
"hgvs_p": null,
"transcript": "ENST00000480112.5",
"protein_id": "ENSP00000418418.1",
"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": 5826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4396A>C",
"hgvs_p": "p.Ile1466Leu",
"transcript": "NM_001410994.1",
"protein_id": "NP_001397923.1",
"transcript_support_level": null,
"aa_start": 1466,
"aa_end": null,
"aa_length": 1892,
"cds_start": 4396,
"cds_end": null,
"cds_length": 5679,
"cdna_start": 4585,
"cdna_end": null,
"cdna_length": 6229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4396A>C",
"hgvs_p": "p.Ile1466Leu",
"transcript": "ENST00000687279.1",
"protein_id": "ENSP00000508692.1",
"transcript_support_level": null,
"aa_start": 1466,
"aa_end": null,
"aa_length": 1892,
"cds_start": 4396,
"cds_end": null,
"cds_length": 5679,
"cdna_start": 4441,
"cdna_end": null,
"cdna_length": 6079,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4303A>C",
"hgvs_p": "p.Ile1435Leu",
"transcript": "ENST00000693728.1",
"protein_id": "ENSP00000510580.1",
"transcript_support_level": null,
"aa_start": 1435,
"aa_end": null,
"aa_length": 1867,
"cds_start": 4303,
"cds_end": null,
"cds_length": 5604,
"cdna_start": 4346,
"cdna_end": null,
"cdna_length": 6071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4303A>C",
"hgvs_p": "p.Ile1435Leu",
"transcript": "NM_001410993.1",
"protein_id": "NP_001397922.1",
"transcript_support_level": null,
"aa_start": 1435,
"aa_end": null,
"aa_length": 1861,
"cds_start": 4303,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 4492,
"cdna_end": null,
"cdna_length": 6136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4303A>C",
"hgvs_p": "p.Ile1435Leu",
"transcript": "ENST00000416449.6",
"protein_id": "ENSP00000400395.2",
"transcript_support_level": 5,
"aa_start": 1435,
"aa_end": null,
"aa_length": 1861,
"cds_start": 4303,
"cds_end": null,
"cds_length": 5586,
"cdna_start": 4346,
"cdna_end": null,
"cdna_length": 5667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4300A>C",
"hgvs_p": "p.Ile1434Leu",
"transcript": "NM_001410992.1",
"protein_id": "NP_001397921.1",
"transcript_support_level": null,
"aa_start": 1434,
"aa_end": null,
"aa_length": 1860,
"cds_start": 4300,
"cds_end": null,
"cds_length": 5583,
"cdna_start": 4489,
"cdna_end": null,
"cdna_length": 6133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4300A>C",
"hgvs_p": "p.Ile1434Leu",
"transcript": "ENST00000687633.1",
"protein_id": "ENSP00000510289.1",
"transcript_support_level": null,
"aa_start": 1434,
"aa_end": null,
"aa_length": 1860,
"cds_start": 4300,
"cds_end": null,
"cds_length": 5583,
"cdna_start": 4300,
"cdna_end": null,
"cdna_length": 5938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4303A>C",
"hgvs_p": "p.Ile1435Leu",
"transcript": "ENST00000690646.1",
"protein_id": "ENSP00000510383.1",
"transcript_support_level": null,
"aa_start": 1435,
"aa_end": null,
"aa_length": 1835,
"cds_start": 4303,
"cds_end": null,
"cds_length": 5508,
"cdna_start": 4303,
"cdna_end": null,
"cdna_length": 5831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4399A>C",
"hgvs_p": "p.Ile1467Leu",
"transcript": "NM_001011649.3",
"protein_id": "NP_001011649.1",
"transcript_support_level": null,
"aa_start": 1467,
"aa_end": null,
"aa_length": 1814,
"cds_start": 4399,
"cds_end": null,
"cds_length": 5445,
"cdna_start": 4588,
"cdna_end": null,
"cdna_length": 5995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.3709A>C",
"hgvs_p": "p.Ile1237Leu",
"transcript": "NM_001272039.2",
"protein_id": "NP_001258968.1",
"transcript_support_level": null,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1663,
"cds_start": 3709,
"cds_end": null,
"cds_length": 4992,
"cdna_start": 3898,
"cdna_end": null,
"cdna_length": 5542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.3709A>C",
"hgvs_p": "p.Ile1237Leu",
"transcript": "ENST00000360822.8",
"protein_id": "ENSP00000354065.4",
"transcript_support_level": 5,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1663,
"cds_start": 3709,
"cds_end": null,
"cds_length": 4992,
"cdna_start": 3890,
"cdna_end": null,
"cdna_length": 5173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.1429A>C",
"hgvs_p": "p.Ile477Leu",
"transcript": "ENST00000425647.1",
"protein_id": "ENSP00000409941.1",
"transcript_support_level": 2,
"aa_start": 477,
"aa_end": null,
"aa_length": 903,
"cds_start": 1429,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1429,
"cdna_end": null,
"cdna_length": 2747,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.7A>C",
"hgvs_p": "p.Ile3Leu",
"transcript": "ENST00000688512.1",
"protein_id": "ENSP00000508546.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 429,
"cds_start": 7,
"cds_end": null,
"cds_length": 1290,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CDK5RAP2",
"gene_hgnc_id": 18672,
"hgvs_c": "c.4396A>C",
"hgvs_p": "p.Ile1466Leu",
"transcript": "XM_047423587.1",
"protein_id": "XP_047279543.1",
"transcript_support_level": null,
"aa_start": 1466,
"aa_end": null,
"aa_length": 1813,
"cds_start": 4396,
"cds_end": null,
"cds_length": 5442,
"cdna_start": 4585,
"cdna_end": null,
"cdna_length": 5992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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{
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}
],
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}