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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: 17-39727896-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39727896&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 39727896,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000269571.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3620C>A",
"hgvs_p": "p.Pro1207His",
"transcript": "NM_004448.4",
"protein_id": "NP_004439.2",
"transcript_support_level": null,
"aa_start": 1207,
"aa_end": null,
"aa_length": 1255,
"cds_start": 3620,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 3795,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": "ENST00000269571.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3620C>A",
"hgvs_p": "p.Pro1207His",
"transcript": "ENST00000269571.10",
"protein_id": "ENSP00000269571.4",
"transcript_support_level": 1,
"aa_start": 1207,
"aa_end": null,
"aa_length": 1255,
"cds_start": 3620,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 3795,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": "NM_004448.4",
"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": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "n.*3410C>A",
"hgvs_p": null,
"transcript": "ENST00000578373.5",
"protein_id": "ENSP00000463427.1",
"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": 4523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.*199C>A",
"hgvs_p": null,
"transcript": "ENST00000584450.5",
"protein_id": "ENSP00000463714.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1055,
"cds_start": -4,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "n.*3410C>A",
"hgvs_p": null,
"transcript": "ENST00000578373.5",
"protein_id": "ENSP00000463427.1",
"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": 4523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3737C>A",
"hgvs_p": "p.Pro1246His",
"transcript": "NM_001382784.1",
"protein_id": "NP_001369713.1",
"transcript_support_level": null,
"aa_start": 1246,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3737,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3912,
"cdna_end": null,
"cdna_length": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3722C>A",
"hgvs_p": "p.Pro1241His",
"transcript": "NM_001382785.1",
"protein_id": "NP_001369714.1",
"transcript_support_level": null,
"aa_start": 1241,
"aa_end": null,
"aa_length": 1289,
"cds_start": 3722,
"cds_end": null,
"cds_length": 3870,
"cdna_start": 3897,
"cdna_end": null,
"cdna_length": 4659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3701C>A",
"hgvs_p": "p.Pro1234His",
"transcript": "NM_001382786.1",
"protein_id": "NP_001369715.1",
"transcript_support_level": null,
"aa_start": 1234,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3701,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 3876,
"cdna_end": null,
"cdna_length": 4638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3695C>A",
"hgvs_p": "p.Pro1232His",
"transcript": "NM_001382787.1",
"protein_id": "NP_001369716.1",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3695,
"cds_end": null,
"cds_length": 3843,
"cdna_start": 3870,
"cdna_end": null,
"cdna_length": 4632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3650C>A",
"hgvs_p": "p.Pro1217His",
"transcript": "NM_001382788.1",
"protein_id": "NP_001369717.1",
"transcript_support_level": null,
"aa_start": 1217,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3650,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 3825,
"cdna_end": null,
"cdna_length": 4587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3641C>A",
"hgvs_p": "p.Pro1214His",
"transcript": "NM_001382789.1",
"protein_id": "NP_001369718.1",
"transcript_support_level": null,
"aa_start": 1214,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3641,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 3816,
"cdna_end": null,
"cdna_length": 4578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3617C>A",
"hgvs_p": "p.Pro1206His",
"transcript": "NM_001382790.1",
"protein_id": "NP_001369719.1",
"transcript_support_level": null,
"aa_start": 1206,
"aa_end": null,
"aa_length": 1254,
"cds_start": 3617,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 3792,
"cdna_end": null,
"cdna_length": 4554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3611C>A",
"hgvs_p": "p.Pro1204His",
"transcript": "NM_001382791.1",
"protein_id": "NP_001369720.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 1252,
"cds_start": 3611,
"cds_end": null,
"cds_length": 3759,
"cdna_start": 3786,
"cdna_end": null,
"cdna_length": 4548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3584C>A",
"hgvs_p": "p.Pro1195His",
"transcript": "NM_001382792.1",
"protein_id": "NP_001369721.1",
"transcript_support_level": null,
"aa_start": 1195,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3584,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 3759,
"cdna_end": null,
"cdna_length": 4521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3578C>A",
"hgvs_p": "p.Pro1193His",
"transcript": "NM_001382793.1",
"protein_id": "NP_001369722.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3578,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 3753,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3578C>A",
"hgvs_p": "p.Pro1193His",
"transcript": "NM_001382794.1",
"protein_id": "NP_001369723.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3578,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 3753,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3575C>A",
"hgvs_p": "p.Pro1192His",
"transcript": "NM_001289936.2",
"protein_id": "NP_001276865.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1240,
"cds_start": 3575,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 4147,
"cdna_end": null,
"cdna_length": 4909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3575C>A",
"hgvs_p": "p.Pro1192His",
"transcript": "ENST00000541774.5",
"protein_id": "ENSP00000446466.1",
"transcript_support_level": 5,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1240,
"cds_start": 3575,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 3575,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3572C>A",
"hgvs_p": "p.Pro1191His",
"transcript": "NM_001382795.1",
"protein_id": "NP_001369724.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3572,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 3747,
"cdna_end": null,
"cdna_length": 4509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3533C>A",
"hgvs_p": "p.Pro1178His",
"transcript": "NM_001382796.1",
"protein_id": "NP_001369725.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3533,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3708,
"cdna_end": null,
"cdna_length": 4470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3530C>A",
"hgvs_p": "p.Pro1177His",
"transcript": "NM_001005862.3",
"protein_id": "NP_001005862.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3530,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 4096,
"cdna_end": null,
"cdna_length": 4858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3530C>A",
"hgvs_p": "p.Pro1177His",
"transcript": "NM_001382782.1",
"protein_id": "NP_001369711.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3530,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 4403,
"cdna_end": null,
"cdna_length": 5165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
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}
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}