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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: 12-121274274-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=121274274&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 121274274,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000404169.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Thr85Pro",
"transcript": "NM_001270485.2",
"protein_id": "NP_001257414.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 588,
"cds_start": 253,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 4905,
"mane_select": "ENST00000404169.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Thr85Pro",
"transcript": "ENST00000404169.8",
"protein_id": "ENSP00000384600.3",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 588,
"cds_start": 253,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 4905,
"mane_select": "NM_001270485.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Thr85Pro",
"transcript": "ENST00000324774.9",
"protein_id": "ENSP00000312741.5",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 588,
"cds_start": 253,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 5598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Thr85Pro",
"transcript": "ENST00000402834.8",
"protein_id": "ENSP00000384591.4",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 588,
"cds_start": 253,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 385,
"cdna_end": null,
"cdna_length": 2051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Thr85Pro",
"transcript": "ENST00000392474.6",
"protein_id": "ENSP00000376266.2",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 556,
"cds_start": 253,
"cds_end": null,
"cds_length": 1671,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 4453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Thr85Pro",
"transcript": "ENST00000347034.6",
"protein_id": "ENSP00000321230.3",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 545,
"cds_start": 253,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 5218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Thr85Pro",
"transcript": "ENST00000337174.7",
"protein_id": "ENSP00000336634.3",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 541,
"cds_start": 253,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 5304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Thr85Pro",
"transcript": "ENST00000412367.6",
"protein_id": "ENSP00000388368.2",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 541,
"cds_start": 253,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Thr85Pro",
"transcript": "ENST00000392473.2",
"protein_id": "ENSP00000376265.2",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 533,
"cds_start": 253,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Thr85Pro",
"transcript": "ENST00000538733.5",
"protein_id": "ENSP00000445944.1",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 498,
"cds_start": 253,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 831,
"cdna_end": null,
"cdna_length": 5175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Thr85Pro",
"transcript": "ENST00000446440.6",
"protein_id": "ENSP00000388273.2",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 490,
"cds_start": 253,
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"cds_length": 1473,
"cdna_start": 831,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
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"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Thr85Pro",
"transcript": "NM_006549.4",
"protein_id": "NP_006540.3",
"transcript_support_level": null,
"aa_start": 85,
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"aa_length": 588,
"cds_start": 253,
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"cds_length": 1767,
"cdna_start": 593,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Thr85Pro",
"transcript": "ENST00000652382.1",
"protein_id": "ENSP00000498824.1",
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"cdna_start": 617,
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"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 1,
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"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "CAMKK2",
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"hgvs_c": "c.253A>C",
"hgvs_p": "p.Thr85Pro",
"transcript": "NM_001270486.1",
"protein_id": "NP_001257415.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Thr85Pro",
"transcript": "NM_172216.2",
"protein_id": "NP_757365.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
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"cds_start": 253,
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"cdna_start": 593,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Thr85Pro",
"transcript": "NM_153499.3",
"protein_id": "NP_705719.2",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
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"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Thr85Pro",
"transcript": "NM_172226.3",
"protein_id": "NP_757380.1",
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"aa_start": 85,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Thr85Pro",
"transcript": "NM_172214.3",
"protein_id": "NP_757363.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
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"cds_start": 253,
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},
{
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"protein_coding": true,
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"consequences": [
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],
"exon_rank": 2,
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"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Thr85Pro",
"transcript": "NM_153500.2",
"protein_id": "NP_705720.1",
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},
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],
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"intron_rank": null,
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"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Thr85Pro",
"transcript": "NM_172215.3",
"protein_id": "NP_757364.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": 2,
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"intron_rank": null,
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"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.253A>C",
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"transcript": "ENST00000543477.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Thr85Pro",
"transcript": "ENST00000544485.1",
"protein_id": "ENSP00000445400.1",
"transcript_support_level": 4,
"aa_start": 85,
"aa_end": null,
"aa_length": 86,
"cds_start": 253,
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"cds_length": 262,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAMKK2",
"gene_hgnc_id": 1470,
"hgvs_c": "c.253A>C",
"hgvs_p": "p.Thr85Pro",
"transcript": "XM_047428101.1",
"protein_id": "XP_047284057.1",
"transcript_support_level": null,
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