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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: 9-14120480-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=14120480&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 14120480,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001369458.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.1205A>G",
"hgvs_p": "p.Tyr402Cys",
"transcript": "NM_001190737.2",
"protein_id": "NP_001177666.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 494,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 8576,
"mane_select": "ENST00000380953.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190737.2"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.1205A>G",
"hgvs_p": "p.Tyr402Cys",
"transcript": "ENST00000380953.6",
"protein_id": "ENSP00000370340.1",
"transcript_support_level": 1,
"aa_start": 402,
"aa_end": null,
"aa_length": 494,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 8576,
"mane_select": "NM_001190737.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380953.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.1205A>G",
"hgvs_p": "p.Tyr402Cys",
"transcript": "ENST00000380959.7",
"protein_id": "ENSP00000370346.3",
"transcript_support_level": 1,
"aa_start": 402,
"aa_end": null,
"aa_length": 420,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1263,
"cdna_start": 1679,
"cdna_end": null,
"cdna_length": 8198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380959.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.449A>G",
"hgvs_p": "p.Tyr150Cys",
"transcript": "ENST00000543693.5",
"protein_id": "ENSP00000442888.1",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 309,
"cds_start": 449,
"cds_end": null,
"cds_length": 930,
"cdna_start": 787,
"cdna_end": null,
"cdna_length": 7622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543693.5"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.1271A>G",
"hgvs_p": "p.Tyr424Cys",
"transcript": "NM_001369458.1",
"protein_id": "NP_001356387.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 592,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1779,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 8163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369458.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.1271A>G",
"hgvs_p": "p.Tyr424Cys",
"transcript": "NM_001369459.1",
"protein_id": "NP_001356388.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 583,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1752,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 8136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369459.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.1205A>G",
"hgvs_p": "p.Tyr402Cys",
"transcript": "NM_001429577.1",
"protein_id": "NP_001416506.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 570,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 8692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001429577.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.1205A>G",
"hgvs_p": "p.Tyr402Cys",
"transcript": "ENST00000397581.7",
"protein_id": "ENSP00000380711.2",
"transcript_support_level": 5,
"aa_start": 402,
"aa_end": null,
"aa_length": 570,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 8692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397581.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.1193A>G",
"hgvs_p": "p.Tyr398Cys",
"transcript": "NM_001369460.1",
"protein_id": "NP_001356389.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 566,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1622,
"cdna_end": null,
"cdna_length": 8479,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369460.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.1193A>G",
"hgvs_p": "p.Tyr398Cys",
"transcript": "ENST00000646622.1",
"protein_id": "ENSP00000496424.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 566,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 2371,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646622.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.1205A>G",
"hgvs_p": "p.Tyr402Cys",
"transcript": "NM_001369461.1",
"protein_id": "NP_001356390.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 561,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 8665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369461.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.1205A>G",
"hgvs_p": "p.Tyr402Cys",
"transcript": "ENST00000397575.7",
"protein_id": "ENSP00000380705.3",
"transcript_support_level": 2,
"aa_start": 402,
"aa_end": null,
"aa_length": 561,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1686,
"cdna_start": 1763,
"cdna_end": null,
"cdna_length": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397575.7"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.1271A>G",
"hgvs_p": "p.Tyr424Cys",
"transcript": "NM_001369462.1",
"protein_id": "NP_001356391.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 509,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 1306,
"cdna_end": null,
"cdna_length": 7914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369462.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.1205A>G",
"hgvs_p": "p.Tyr402Cys",
"transcript": "ENST00000877585.1",
"protein_id": "ENSP00000547644.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 503,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 3670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877585.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.1205A>G",
"hgvs_p": "p.Tyr402Cys",
"transcript": "ENST00000959941.1",
"protein_id": "ENSP00000630000.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 503,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1718,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959941.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.1202A>G",
"hgvs_p": "p.Tyr401Cys",
"transcript": "ENST00000877583.1",
"protein_id": "ENSP00000547642.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 502,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 2281,
"cdna_end": null,
"cdna_length": 4089,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877583.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.1193A>G",
"hgvs_p": "p.Tyr398Cys",
"transcript": "NM_001369463.1",
"protein_id": "NP_001356392.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 494,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1622,
"cdna_end": null,
"cdna_length": 8307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369463.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.1205A>G",
"hgvs_p": "p.Tyr402Cys",
"transcript": "ENST00000959943.1",
"protein_id": "ENSP00000630002.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 494,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 1549,
"cdna_end": null,
"cdna_length": 2532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959943.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.1202A>G",
"hgvs_p": "p.Tyr401Cys",
"transcript": "ENST00000877586.1",
"protein_id": "ENSP00000547645.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 493,
"cds_start": 1202,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 2206,
"cdna_end": null,
"cdna_length": 3239,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877586.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.1205A>G",
"hgvs_p": "p.Tyr402Cys",
"transcript": "NM_001369464.1",
"protein_id": "NP_001356393.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 487,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 1835,
"cdna_end": null,
"cdna_length": 8443,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369464.1"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.1205A>G",
"hgvs_p": "p.Tyr402Cys",
"transcript": "ENST00000397579.6",
"protein_id": "ENSP00000380709.2",
"transcript_support_level": 5,
"aa_start": 402,
"aa_end": null,
"aa_length": 487,
"cds_start": 1205,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 2276,
"cdna_end": null,
"cdna_length": 3129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397579.6"
},
{
"aa_ref": "Y",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NFIB",
"gene_hgnc_id": 7785,
"hgvs_c": "c.1178A>G",
"hgvs_p": "p.Tyr393Cys",
"transcript": "NM_001369465.1",
"protein_id": "NP_001356394.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 485,
"cds_start": 1178,
"cds_end": null,
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}