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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: 12-121240804-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=121240804&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 121240804,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_153499.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1619T>C",
"hgvs_p": "p.Leu540Pro",
"transcript": "ENST00000337174.7",
"protein_id": "ENSP00000336634.3",
"transcript_support_level": 1,
"aa_start": 540,
"aa_end": null,
"aa_length": 541,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337174.7"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1619T>C",
"hgvs_p": "p.Leu540Pro",
"transcript": "ENST00000412367.6",
"protein_id": "ENSP00000388368.2",
"transcript_support_level": 1,
"aa_start": 540,
"aa_end": null,
"aa_length": 541,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000412367.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1490T>C",
"hgvs_p": "p.Leu497Pro",
"transcript": "ENST00000538733.5",
"protein_id": "ENSP00000445944.1",
"transcript_support_level": 1,
"aa_start": 497,
"aa_end": null,
"aa_length": 498,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538733.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1662T>C",
"hgvs_p": "p.Ala554Ala",
"transcript": "NM_001270485.2",
"protein_id": "NP_001257414.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 588,
"cds_start": 1662,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000404169.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270485.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1662T>C",
"hgvs_p": "p.Ala554Ala",
"transcript": "ENST00000404169.8",
"protein_id": "ENSP00000384600.3",
"transcript_support_level": 1,
"aa_start": 554,
"aa_end": null,
"aa_length": 588,
"cds_start": 1662,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001270485.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404169.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1662T>C",
"hgvs_p": "p.Ala554Ala",
"transcript": "ENST00000324774.9",
"protein_id": "ENSP00000312741.5",
"transcript_support_level": 1,
"aa_start": 554,
"aa_end": null,
"aa_length": 588,
"cds_start": 1662,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000324774.9"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1662T>C",
"hgvs_p": "p.Ala554Ala",
"transcript": "ENST00000402834.8",
"protein_id": "ENSP00000384591.4",
"transcript_support_level": 1,
"aa_start": 554,
"aa_end": null,
"aa_length": 588,
"cds_start": 1662,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402834.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1533T>C",
"hgvs_p": "p.Ala511Ala",
"transcript": "ENST00000347034.6",
"protein_id": "ENSP00000321230.3",
"transcript_support_level": 1,
"aa_start": 511,
"aa_end": null,
"aa_length": 545,
"cds_start": 1533,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347034.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1597-262T>C",
"hgvs_p": null,
"transcript": "ENST00000392474.6",
"protein_id": "ENSP00000376266.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 556,
"cds_start": null,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392474.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.958-262T>C",
"hgvs_p": null,
"transcript": "ENST00000545538.5",
"protein_id": "ENSP00000441352.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 343,
"cds_start": null,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000545538.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1619T>C",
"hgvs_p": "p.Leu540Pro",
"transcript": "NM_153499.3",
"protein_id": "NP_705719.2",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 541,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153499.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1619T>C",
"hgvs_p": "p.Leu540Pro",
"transcript": "NM_172226.3",
"protein_id": "NP_757380.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 541,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_172226.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1490T>C",
"hgvs_p": "p.Leu497Pro",
"transcript": "NM_153500.2",
"protein_id": "NP_705720.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 498,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153500.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1619T>C",
"hgvs_p": "p.Leu540Pro",
"transcript": "XM_047428103.1",
"protein_id": "XP_047284059.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 541,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428103.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1490T>C",
"hgvs_p": "p.Leu497Pro",
"transcript": "XM_005253824.3",
"protein_id": "XP_005253881.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 498,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253824.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1490T>C",
"hgvs_p": "p.Leu497Pro",
"transcript": "XM_047428107.1",
"protein_id": "XP_047284063.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 498,
"cds_start": 1490,
"cds_end": null,
"cds_length": 1497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428107.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1755T>C",
"hgvs_p": "p.Ala585Ala",
"transcript": "ENST00000907132.1",
"protein_id": "ENSP00000577191.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 619,
"cds_start": 1755,
"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": "ENST00000907132.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1662T>C",
"hgvs_p": "p.Ala554Ala",
"transcript": "NM_006549.4",
"protein_id": "NP_006540.3",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 588,
"cds_start": 1662,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006549.4"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1662T>C",
"hgvs_p": "p.Ala554Ala",
"transcript": "ENST00000652382.1",
"protein_id": "ENSP00000498824.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 588,
"cds_start": 1662,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652382.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1662T>C",
"hgvs_p": "p.Ala554Ala",
"transcript": "ENST00000907129.1",
"protein_id": "ENSP00000577188.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 588,
"cds_start": 1662,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907129.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1662T>C",
"hgvs_p": "p.Ala554Ala",
"transcript": "ENST00000943501.1",
"protein_id": "ENSP00000613560.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 588,
"cds_start": 1662,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943501.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.1662T>C",
"hgvs_p": "p.Ala554Ala",
"transcript": "ENST00000943502.1",
"protein_id": "ENSP00000613561.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 588,
"cds_start": 1662,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}
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}