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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: 1-196690194-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=196690194&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 196690194,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000367429.9",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.1291T>A",
"hgvs_p": "p.Cys431Ser",
"transcript": "NM_000186.4",
"protein_id": "NP_000177.2",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 1231,
"cds_start": 1291,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 1366,
"cdna_end": null,
"cdna_length": 3962,
"mane_select": "ENST00000367429.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.1291T>A",
"hgvs_p": "p.Cys431Ser",
"transcript": "ENST00000367429.9",
"protein_id": "ENSP00000356399.4",
"transcript_support_level": 1,
"aa_start": 431,
"aa_end": null,
"aa_length": 1231,
"cds_start": 1291,
"cds_end": null,
"cds_length": 3696,
"cdna_start": 1366,
"cdna_end": null,
"cdna_length": 3962,
"mane_select": "NM_000186.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289697",
"gene_hgnc_id": null,
"hgvs_c": "c.1291T>A",
"hgvs_p": "p.Cys431Ser",
"transcript": "ENST00000696032.1",
"protein_id": "ENSP00000512341.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 1504,
"cds_start": 1291,
"cds_end": null,
"cds_length": 4515,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 6661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.1291T>A",
"hgvs_p": "p.Cys431Ser",
"transcript": "ENST00000630130.2",
"protein_id": "ENSP00000487250.1",
"transcript_support_level": 1,
"aa_start": 431,
"aa_end": null,
"aa_length": 449,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 1658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.1099T>A",
"hgvs_p": "p.Cys367Ser",
"transcript": "ENST00000359637.3",
"protein_id": "ENSP00000352658.2",
"transcript_support_level": 1,
"aa_start": 367,
"aa_end": null,
"aa_length": 385,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1158,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 1756,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "n.3307T>A",
"hgvs_p": null,
"transcript": "ENST00000466229.5",
"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": 6985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.1291T>A",
"hgvs_p": "p.Cys431Ser",
"transcript": "ENST00000696027.1",
"protein_id": "ENSP00000512336.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 1229,
"cds_start": 1291,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 4003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.1291T>A",
"hgvs_p": "p.Cys431Ser",
"transcript": "ENST00000696029.1",
"protein_id": "ENSP00000512338.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 1229,
"cds_start": 1291,
"cds_end": null,
"cds_length": 3690,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 4003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.1270T>A",
"hgvs_p": "p.Cys424Ser",
"transcript": "ENST00000695971.1",
"protein_id": "ENSP00000512298.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 1224,
"cds_start": 1270,
"cds_end": null,
"cds_length": 3675,
"cdna_start": 1536,
"cdna_end": null,
"cdna_length": 4132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.1291T>A",
"hgvs_p": "p.Cys431Ser",
"transcript": "ENST00000696028.1",
"protein_id": "ENSP00000512337.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 1207,
"cds_start": 1291,
"cds_end": null,
"cds_length": 3624,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 3937,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.1291T>A",
"hgvs_p": "p.Cys431Ser",
"transcript": "ENST00000695981.1",
"protein_id": "ENSP00000512306.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 1196,
"cds_start": 1291,
"cds_end": null,
"cds_length": 3591,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 4105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.1291T>A",
"hgvs_p": "p.Cys431Ser",
"transcript": "ENST00000695970.1",
"protein_id": "ENSP00000512297.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 1173,
"cds_start": 1291,
"cds_end": null,
"cds_length": 3522,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 3979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.1291T>A",
"hgvs_p": "p.Cys431Ser",
"transcript": "ENST00000695974.1",
"protein_id": "ENSP00000512301.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 1172,
"cds_start": 1291,
"cds_end": null,
"cds_length": 3519,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.1102T>A",
"hgvs_p": "p.Cys368Ser",
"transcript": "ENST00000695976.1",
"protein_id": "ENSP00000512303.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 1168,
"cds_start": 1102,
"cds_end": null,
"cds_length": 3507,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.1291T>A",
"hgvs_p": "p.Cys431Ser",
"transcript": "ENST00000695983.1",
"protein_id": "ENSP00000512308.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 975,
"cds_start": 1291,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 3012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.1291T>A",
"hgvs_p": "p.Cys431Ser",
"transcript": "ENST00000695969.1",
"protein_id": "ENSP00000512296.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 928,
"cds_start": 1291,
"cds_end": null,
"cds_length": 2787,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.1291T>A",
"hgvs_p": "p.Cys431Ser",
"transcript": "ENST00000695978.1",
"protein_id": "ENSP00000512304.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 486,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1461,
"cdna_start": 1411,
"cdna_end": null,
"cdna_length": 1782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.1291T>A",
"hgvs_p": "p.Cys431Ser",
"transcript": "ENST00000696023.1",
"protein_id": "ENSP00000512334.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 453,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1362,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 1714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.1291T>A",
"hgvs_p": "p.Cys431Ser",
"transcript": "NM_001014975.3",
"protein_id": "NP_001014975.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 449,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1366,
"cdna_end": null,
"cdna_length": 1660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.1270T>A",
"hgvs_p": "p.Cys424Ser",
"transcript": "ENST00000695979.1",
"protein_id": "ENSP00000512305.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 442,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.1216T>A",
"hgvs_p": "p.Cys406Ser",
"transcript": "ENST00000696030.1",
"protein_id": "ENSP00000512339.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 424,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1291,
"cdna_end": null,
"cdna_length": 1590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.1108T>A",
"hgvs_p": "p.Cys370Ser",
"transcript": "ENST00000695968.1",
"protein_id": "ENSP00000512295.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 388,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1167,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CFH",
"gene_hgnc_id": 4883,
"hgvs_c": "c.1102T>A",
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}
],
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}