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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: 17-78680284-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78680284&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 78680284,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001365040.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Glu342Lys",
"transcript": "NM_004762.6",
"protein_id": "NP_004753.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 398,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 3290,
"mane_select": "ENST00000446868.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004762.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Glu342Lys",
"transcript": "ENST00000446868.8",
"protein_id": "ENSP00000389095.3",
"transcript_support_level": 5,
"aa_start": 342,
"aa_end": null,
"aa_length": 398,
"cds_start": 1024,
"cds_end": null,
"cds_length": 1197,
"cdna_start": 1074,
"cdna_end": null,
"cdna_length": 3290,
"mane_select": "NM_004762.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446868.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Glu343Lys",
"transcript": "NM_001365040.2",
"protein_id": "NP_001351969.1",
"transcript_support_level": null,
"aa_start": 343,
"aa_end": null,
"aa_length": 399,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1210,
"cdna_end": null,
"cdna_length": 3426,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365040.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.1027G>A",
"hgvs_p": "p.Glu343Lys",
"transcript": "ENST00000589768.6",
"protein_id": "ENSP00000467052.2",
"transcript_support_level": 3,
"aa_start": 343,
"aa_end": null,
"aa_length": 399,
"cds_start": 1027,
"cds_end": null,
"cds_length": 1200,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 3398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589768.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Glu341Lys",
"transcript": "NM_017456.4",
"protein_id": "NP_059430.2",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 397,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 3287,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017456.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Glu341Lys",
"transcript": "ENST00000591455.5",
"protein_id": "ENSP00000465665.1",
"transcript_support_level": 2,
"aa_start": 341,
"aa_end": null,
"aa_length": 397,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1194,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 3286,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591455.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Glu341Lys",
"transcript": "NM_001365037.2",
"protein_id": "NP_001351966.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 380,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1143,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 3343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365037.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.1021G>A",
"hgvs_p": "p.Glu341Lys",
"transcript": "NM_001394677.1",
"protein_id": "NP_001381606.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 372,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 1071,
"cdna_end": null,
"cdna_length": 7307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394677.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Glu283Lys",
"transcript": "NM_001292018.4",
"protein_id": "NP_001278947.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 339,
"cds_start": 847,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1356,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001292018.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Glu283Lys",
"transcript": "NM_001292019.4",
"protein_id": "NP_001278948.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 339,
"cds_start": 847,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001292019.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Glu283Lys",
"transcript": "ENST00000585509.5",
"protein_id": "ENSP00000465940.1",
"transcript_support_level": 5,
"aa_start": 283,
"aa_end": null,
"aa_length": 339,
"cds_start": 847,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1099,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585509.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Glu283Lys",
"transcript": "ENST00000589297.5",
"protein_id": "ENSP00000466512.1",
"transcript_support_level": 5,
"aa_start": 283,
"aa_end": null,
"aa_length": 339,
"cds_start": 847,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 3756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589297.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Glu282Lys",
"transcript": "NM_001365038.2",
"protein_id": "NP_001351967.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 844,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1269,
"cdna_end": null,
"cdna_length": 3485,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365038.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Glu282Lys",
"transcript": "NM_001365039.2",
"protein_id": "NP_001351968.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 844,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365039.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Glu282Lys",
"transcript": "NM_001365041.3",
"protein_id": "NP_001351970.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 844,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 3569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365041.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Glu282Lys",
"transcript": "NM_001394676.1",
"protein_id": "NP_001381605.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 338,
"cds_start": 844,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 3322,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394676.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Glu278Lys",
"transcript": "ENST00000883953.1",
"protein_id": "ENSP00000554012.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 334,
"cds_start": 832,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 1161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883953.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.844G>A",
"hgvs_p": "p.Glu282Lys",
"transcript": "NM_001394678.1",
"protein_id": "NP_001381607.1",
"transcript_support_level": null,
"aa_start": 282,
"aa_end": null,
"aa_length": 313,
"cds_start": 844,
"cds_end": null,
"cds_length": 942,
"cdna_start": 1353,
"cdna_end": null,
"cdna_length": 7589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394678.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.760G>A",
"hgvs_p": "p.Glu254Lys",
"transcript": "ENST00000943665.1",
"protein_id": "ENSP00000613724.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 310,
"cds_start": 760,
"cds_end": null,
"cds_length": 933,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 3051,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943665.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Glu353Lys",
"transcript": "XM_047437076.1",
"protein_id": "XP_047293032.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 409,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 3461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437076.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Glu352Lys",
"transcript": "XM_047437077.1",
"protein_id": "XP_047293033.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 408,
"cds_start": 1054,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 1983,
"cdna_end": null,
"cdna_length": 4199,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437077.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH1",
"gene_hgnc_id": 9501,
"hgvs_c": "c.1057G>A",
"hgvs_p": "p.Glu353Lys",
"transcript": "XM_011525475.4",
"protein_id": "XP_011523777.2",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 392,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1179,
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}