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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: 15-72219006-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72219006&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 72219006,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000335181.10",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "F",
"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": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.92G>T",
"hgvs_p": "p.Cys31Phe",
"transcript": "NM_002654.6",
"protein_id": "NP_002645.3",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 531,
"cds_start": 92,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 2305,
"mane_select": "ENST00000335181.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": true,
"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": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.92G>T",
"hgvs_p": "p.Cys31Phe",
"transcript": "ENST00000335181.10",
"protein_id": "ENSP00000334983.5",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 531,
"cds_start": 92,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 2305,
"mane_select": "NM_002654.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.197G>T",
"hgvs_p": "p.Cys66Phe",
"transcript": "ENST00000565184.6",
"protein_id": "ENSP00000455736.2",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 566,
"cds_start": 197,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.92G>T",
"hgvs_p": "p.Cys31Phe",
"transcript": "ENST00000568459.5",
"protein_id": "ENSP00000456970.1",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 531,
"cds_start": 92,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 281,
"cdna_end": null,
"cdna_length": 1806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.92G>T",
"hgvs_p": "p.Cys31Phe",
"transcript": "ENST00000561609.5",
"protein_id": "ENSP00000457253.1",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 484,
"cds_start": 92,
"cds_end": null,
"cds_length": 1455,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 1568,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "n.180G>T",
"hgvs_p": null,
"transcript": "ENST00000564276.1",
"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": 753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.314G>T",
"hgvs_p": "p.Cys105Phe",
"transcript": "NM_001206796.3",
"protein_id": "NP_001193725.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 605,
"cds_start": 314,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.314G>T",
"hgvs_p": "p.Cys105Phe",
"transcript": "NM_001411081.1",
"protein_id": "NP_001398010.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 605,
"cds_start": 314,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 2642,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.314G>T",
"hgvs_p": "p.Cys105Phe",
"transcript": "ENST00000565154.6",
"protein_id": "ENSP00000455901.2",
"transcript_support_level": 2,
"aa_start": 105,
"aa_end": null,
"aa_length": 605,
"cds_start": 314,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.314G>T",
"hgvs_p": "p.Cys105Phe",
"transcript": "ENST00000698741.1",
"protein_id": "ENSP00000513903.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 605,
"cds_start": 314,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 2578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.197G>T",
"hgvs_p": "p.Cys66Phe",
"transcript": "NM_001316318.2",
"protein_id": "NP_001303247.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 566,
"cds_start": 197,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 400,
"cdna_end": null,
"cdna_length": 2525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.107G>T",
"hgvs_p": "p.Cys36Phe",
"transcript": "NM_001206799.2",
"protein_id": "NP_001193728.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 536,
"cds_start": 107,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.92G>T",
"hgvs_p": "p.Cys31Phe",
"transcript": "NM_182470.4",
"protein_id": "NP_872270.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 531,
"cds_start": 92,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 2521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.92G>T",
"hgvs_p": "p.Cys31Phe",
"transcript": "NM_182471.4",
"protein_id": "NP_872271.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 531,
"cds_start": 92,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 2305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"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": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.92G>T",
"hgvs_p": "p.Cys31Phe",
"transcript": "ENST00000319622.10",
"protein_id": "ENSP00000320171.6",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 531,
"cds_start": 92,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 592,
"cdna_end": null,
"cdna_length": 2717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.139G>T",
"hgvs_p": "p.Ala47Ser",
"transcript": "NM_001206798.3",
"protein_id": "NP_001193727.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 516,
"cds_start": 139,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.92G>T",
"hgvs_p": "p.Cys31Phe",
"transcript": "NM_001206797.3",
"protein_id": "NP_001193726.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 457,
"cds_start": 92,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 180,
"cdna_end": null,
"cdna_length": 2083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.92G>T",
"hgvs_p": "p.Cys31Phe",
"transcript": "ENST00000389093.7",
"protein_id": "ENSP00000373745.4",
"transcript_support_level": 5,
"aa_start": 31,
"aa_end": null,
"aa_length": 457,
"cds_start": 92,
"cds_end": null,
"cds_length": 1374,
"cdna_start": 376,
"cdna_end": null,
"cdna_length": 2279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.92G>T",
"hgvs_p": "p.Cys31Phe",
"transcript": "ENST00000564178.5",
"protein_id": "ENSP00000457198.1",
"transcript_support_level": 4,
"aa_start": 31,
"aa_end": null,
"aa_length": 167,
"cds_start": 92,
"cds_end": null,
"cds_length": 505,
"cdna_start": 141,
"cdna_end": null,
"cdna_length": 554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.92G>T",
"hgvs_p": "p.Cys31Phe",
"transcript": "ENST00000562997.5",
"protein_id": "ENSP00000457830.1",
"transcript_support_level": 4,
"aa_start": 31,
"aa_end": null,
"aa_length": 161,
"cds_start": 92,
"cds_end": null,
"cds_length": 487,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.92G>T",
"hgvs_p": "p.Cys31Phe",
"transcript": "ENST00000567087.5",
"protein_id": "ENSP00000456984.1",
"transcript_support_level": 4,
"aa_start": 31,
"aa_end": null,
"aa_length": 150,
"cds_start": 92,
"cds_end": null,
"cds_length": 455,
"cdna_start": 187,
"cdna_end": null,
"cdna_length": 550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.92G>T",
"hgvs_p": "p.Cys31Phe",
"transcript": "ENST00000566809.1",
"protein_id": "ENSP00000457420.1",
"transcript_support_level": 4,
"aa_start": 31,
"aa_end": null,
"aa_length": 81,
"cds_start": 92,
"cds_end": null,
"cds_length": 246,
"cdna_start": 406,
"cdna_end": null,
"cdna_length": 560,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PKM",
"gene_hgnc_id": 9021,
"hgvs_c": "c.92G>T",
"hgvs_p": "p.Cys31Phe",
"transcript": "ENST00000569050.1",
"protein_id": "ENSP00000454668.1",
"transcript_support_level": 4,
"aa_start": 31,
"aa_end": null,
"aa_length": 50,
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}