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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: 20-58996708-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=58996708&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 58996708,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000217131.6",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "c.732T>C",
"hgvs_p": "p.Ser244Ser",
"transcript": "NM_001336.4",
"protein_id": "NP_001327.2",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 303,
"cds_start": 732,
"cds_end": null,
"cds_length": 912,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 1502,
"mane_select": "ENST00000217131.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "c.732T>C",
"hgvs_p": "p.Ser244Ser",
"transcript": "ENST00000217131.6",
"protein_id": "ENSP00000217131.5",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 303,
"cds_start": 732,
"cds_end": null,
"cds_length": 912,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 1502,
"mane_select": "NM_001336.4",
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "n.732T>C",
"hgvs_p": null,
"transcript": "ENST00000503833.7",
"protein_id": "ENSP00000506414.1",
"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": 972,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "c.825T>C",
"hgvs_p": "p.Ser275Ser",
"transcript": "ENST00000680995.1",
"protein_id": "ENSP00000505169.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 334,
"cds_start": 825,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 938,
"cdna_end": null,
"cdna_length": 1575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "c.732T>C",
"hgvs_p": "p.Ser244Ser",
"transcript": "ENST00000680879.1",
"protein_id": "ENSP00000505285.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 314,
"cds_start": 732,
"cds_end": null,
"cds_length": 945,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 1833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "c.732T>C",
"hgvs_p": "p.Ser244Ser",
"transcript": "ENST00000680738.1",
"protein_id": "ENSP00000506672.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 294,
"cds_start": 732,
"cds_end": null,
"cds_length": 885,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 1632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "c.732T>C",
"hgvs_p": "p.Ser244Ser",
"transcript": "ENST00000680753.1",
"protein_id": "ENSP00000505409.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 294,
"cds_start": 732,
"cds_end": null,
"cds_length": 885,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 1643,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "c.690T>C",
"hgvs_p": "p.Ser230Ser",
"transcript": "ENST00000681011.1",
"protein_id": "ENSP00000505520.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 289,
"cds_start": 690,
"cds_end": null,
"cds_length": 870,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 10849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "c.732T>C",
"hgvs_p": "p.Ser244Ser",
"transcript": "ENST00000679948.1",
"protein_id": "ENSP00000505895.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 288,
"cds_start": 732,
"cds_end": null,
"cds_length": 867,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "c.732T>C",
"hgvs_p": "p.Ser244Ser",
"transcript": "ENST00000681416.1",
"protein_id": "ENSP00000506588.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 274,
"cds_start": 732,
"cds_end": null,
"cds_length": 825,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 2214,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "n.1675T>C",
"hgvs_p": null,
"transcript": "ENST00000488395.2",
"protein_id": null,
"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": 3198,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "n.1641T>C",
"hgvs_p": null,
"transcript": "ENST00000679391.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2212,
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "n.919T>C",
"hgvs_p": null,
"transcript": "ENST00000680156.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2427,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "n.732T>C",
"hgvs_p": null,
"transcript": "ENST00000680263.1",
"protein_id": "ENSP00000506111.1",
"transcript_support_level": null,
"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": 1908,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "n.*349T>C",
"hgvs_p": null,
"transcript": "ENST00000680283.1",
"protein_id": "ENSP00000506675.1",
"transcript_support_level": null,
"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": 1338,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "n.*355T>C",
"hgvs_p": null,
"transcript": "ENST00000680456.1",
"protein_id": "ENSP00000505693.1",
"transcript_support_level": null,
"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": 1836,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "n.*614T>C",
"hgvs_p": null,
"transcript": "ENST00000680565.1",
"protein_id": "ENSP00000505923.1",
"transcript_support_level": null,
"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": 1843,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "n.1929T>C",
"hgvs_p": null,
"transcript": "ENST00000680628.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2571,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "n.2108T>C",
"hgvs_p": null,
"transcript": "ENST00000681029.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2676,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "n.*568T>C",
"hgvs_p": null,
"transcript": "ENST00000681360.1",
"protein_id": "ENSP00000505504.1",
"transcript_support_level": null,
"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": 2247,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "n.582T>C",
"hgvs_p": null,
"transcript": "ENST00000681366.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 1226,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "n.*349T>C",
"hgvs_p": null,
"transcript": "ENST00000681427.1",
"protein_id": "ENSP00000506266.1",
"transcript_support_level": null,
"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": 1433,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTSZ",
"gene_hgnc_id": 2547,
"hgvs_c": "n.3619T>C",
"hgvs_p": null,
"transcript": "ENST00000681457.1",
"protein_id": null,
"transcript_support_level": null,
"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": 7329,
"mane_select": null,
"mane_plus": null,
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}