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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: 7-128396955-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128396955&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 128396955,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000883.4",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.His381Arg",
"transcript": "NM_000883.4",
"protein_id": "NP_000874.2",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 599,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000338791.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000883.4"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1142A>G",
"hgvs_p": "p.His381Arg",
"transcript": "ENST00000338791.11",
"protein_id": "ENSP00000345096.6",
"transcript_support_level": 2,
"aa_start": 381,
"aa_end": null,
"aa_length": 599,
"cds_start": 1142,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000883.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338791.11"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.His345Arg",
"transcript": "ENST00000348127.11",
"protein_id": "ENSP00000265385.8",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 563,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348127.11"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.His345Arg",
"transcript": "ENST00000955327.1",
"protein_id": "ENSP00000625386.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 595,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955327.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1112A>G",
"hgvs_p": "p.His371Arg",
"transcript": "NM_001102605.2",
"protein_id": "NP_001096075.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 589,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001102605.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1112A>G",
"hgvs_p": "p.His371Arg",
"transcript": "ENST00000354269.9",
"protein_id": "ENSP00000346219.5",
"transcript_support_level": 2,
"aa_start": 371,
"aa_end": null,
"aa_length": 589,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1770,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354269.9"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1109A>G",
"hgvs_p": "p.His370Arg",
"transcript": "ENST00000877816.1",
"protein_id": "ENSP00000547875.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 588,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877816.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1043A>G",
"hgvs_p": "p.His348Arg",
"transcript": "NM_001142576.2",
"protein_id": "NP_001136048.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 566,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142576.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1043A>G",
"hgvs_p": "p.His348Arg",
"transcript": "ENST00000419067.6",
"protein_id": "ENSP00000399400.2",
"transcript_support_level": 3,
"aa_start": 348,
"aa_end": null,
"aa_length": 566,
"cds_start": 1043,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419067.6"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.His345Arg",
"transcript": "NM_183243.3",
"protein_id": "NP_899066.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 563,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183243.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1031A>G",
"hgvs_p": "p.His344Arg",
"transcript": "ENST00000955324.1",
"protein_id": "ENSP00000625383.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 562,
"cds_start": 1031,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955324.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1112A>G",
"hgvs_p": "p.His371Arg",
"transcript": "ENST00000955325.1",
"protein_id": "ENSP00000625384.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 557,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955325.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1013A>G",
"hgvs_p": "p.His338Arg",
"transcript": "ENST00000917542.1",
"protein_id": "ENSP00000587601.1",
"transcript_support_level": null,
"aa_start": 338,
"aa_end": null,
"aa_length": 556,
"cds_start": 1013,
"cds_end": null,
"cds_length": 1671,
"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000917542.1"
},
{
"aa_ref": "H",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
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"intron_rank": null,
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"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.His345Arg",
"transcript": "ENST00000877815.1",
"protein_id": "ENSP00000547874.1",
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"cds_start": 1034,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877815.1"
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.1034A>G",
"hgvs_p": "p.His345Arg",
"transcript": "ENST00000877814.1",
"protein_id": "ENSP00000547873.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
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"cds_start": 1034,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000877814.1"
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.935A>G",
"hgvs_p": "p.His312Arg",
"transcript": "NM_001304521.2",
"protein_id": "NP_001291450.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
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"cds_start": 935,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304521.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.932A>G",
"hgvs_p": "p.His311Arg",
"transcript": "ENST00000955326.1",
"protein_id": "ENSP00000625385.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 529,
"cds_start": 932,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955326.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.887A>G",
"hgvs_p": "p.His296Arg",
"transcript": "NM_001142573.2",
"protein_id": "NP_001136045.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
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"cds_start": 887,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "NM_001142573.2"
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
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"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.884A>G",
"hgvs_p": "p.His295Arg",
"transcript": "ENST00000470772.5",
"protein_id": "ENSP00000417296.1",
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000470772.5"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.His291Arg",
"transcript": "NM_001142574.2",
"protein_id": "NP_001136046.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142574.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.872A>G",
"hgvs_p": "p.His291Arg",
"transcript": "ENST00000480861.5",
"protein_id": "ENSP00000420185.1",
"transcript_support_level": 2,
"aa_start": 291,
"aa_end": null,
"aa_length": 509,
"cds_start": 872,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000480861.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH1",
"gene_hgnc_id": 6052,
"hgvs_c": "c.773A>G",
"hgvs_p": "p.His258Arg",
"transcript": "ENST00000648462.1",
"protein_id": "ENSP00000496892.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 508,
"cds_start": 773,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
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"cdna_length": null,
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}
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}