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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: 17-59682907-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=59682907&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 59682907,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001288653.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.3766G>A",
"hgvs_p": "p.Val1256Ile",
"transcript": "NM_004859.4",
"protein_id": "NP_004850.1",
"transcript_support_level": null,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1675,
"cds_start": 3766,
"cds_end": null,
"cds_length": 5028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000269122.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004859.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.3766G>A",
"hgvs_p": "p.Val1256Ile",
"transcript": "ENST00000269122.8",
"protein_id": "ENSP00000269122.3",
"transcript_support_level": 1,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1675,
"cds_start": 3766,
"cds_end": null,
"cds_length": 5028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004859.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000269122.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.3766G>A",
"hgvs_p": "p.Val1256Ile",
"transcript": "ENST00000393043.5",
"protein_id": "ENSP00000376763.1",
"transcript_support_level": 1,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1639,
"cds_start": 3766,
"cds_end": null,
"cds_length": 4920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393043.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.3883G>A",
"hgvs_p": "p.Val1295Ile",
"transcript": "ENST00000700714.2",
"protein_id": "ENSP00000515154.2",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1721,
"cds_start": 3883,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700714.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.3778G>A",
"hgvs_p": "p.Val1260Ile",
"transcript": "ENST00000935244.1",
"protein_id": "ENSP00000605303.1",
"transcript_support_level": null,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1686,
"cds_start": 3778,
"cds_end": null,
"cds_length": 5061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935244.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.3766G>A",
"hgvs_p": "p.Val1256Ile",
"transcript": "ENST00000472651.6",
"protein_id": "ENSP00000465200.2",
"transcript_support_level": 2,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1682,
"cds_start": 3766,
"cds_end": null,
"cds_length": 5049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000472651.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.3781G>A",
"hgvs_p": "p.Val1261Ile",
"transcript": "ENST00000700709.1",
"protein_id": "ENSP00000515149.1",
"transcript_support_level": null,
"aa_start": 1261,
"aa_end": null,
"aa_length": 1680,
"cds_start": 3781,
"cds_end": null,
"cds_length": 5043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700709.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.3778G>A",
"hgvs_p": "p.Val1260Ile",
"transcript": "NM_001288653.2",
"protein_id": "NP_001275582.1",
"transcript_support_level": null,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1679,
"cds_start": 3778,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001288653.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.3778G>A",
"hgvs_p": "p.Val1260Ile",
"transcript": "ENST00000580081.2",
"protein_id": "ENSP00000462592.2",
"transcript_support_level": 4,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1679,
"cds_start": 3778,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580081.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.3778G>A",
"hgvs_p": "p.Val1260Ile",
"transcript": "ENST00000700711.1",
"protein_id": "ENSP00000515151.1",
"transcript_support_level": null,
"aa_start": 1260,
"aa_end": null,
"aa_length": 1679,
"cds_start": 3778,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700711.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.3769G>A",
"hgvs_p": "p.Val1257Ile",
"transcript": "ENST00000700713.1",
"protein_id": "ENSP00000515153.1",
"transcript_support_level": null,
"aa_start": 1257,
"aa_end": null,
"aa_length": 1676,
"cds_start": 3769,
"cds_end": null,
"cds_length": 5031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700713.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.3766G>A",
"hgvs_p": "p.Val1256Ile",
"transcript": "ENST00000700707.1",
"protein_id": "ENSP00000515147.1",
"transcript_support_level": null,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1675,
"cds_start": 3766,
"cds_end": null,
"cds_length": 5028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700707.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.3766G>A",
"hgvs_p": "p.Val1256Ile",
"transcript": "ENST00000935243.1",
"protein_id": "ENSP00000605302.1",
"transcript_support_level": null,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1672,
"cds_start": 3766,
"cds_end": null,
"cds_length": 5019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935243.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.3745G>A",
"hgvs_p": "p.Val1249Ile",
"transcript": "ENST00000714242.1",
"protein_id": "ENSP00000519522.1",
"transcript_support_level": null,
"aa_start": 1249,
"aa_end": null,
"aa_length": 1668,
"cds_start": 3745,
"cds_end": null,
"cds_length": 5007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714242.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.3766G>A",
"hgvs_p": "p.Val1256Ile",
"transcript": "ENST00000700715.2",
"protein_id": "ENSP00000515155.2",
"transcript_support_level": null,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1656,
"cds_start": 3766,
"cds_end": null,
"cds_length": 4971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700715.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.3673G>A",
"hgvs_p": "p.Val1225Ile",
"transcript": "ENST00000700712.1",
"protein_id": "ENSP00000515152.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1651,
"cds_start": 3673,
"cds_end": null,
"cds_length": 4956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000700712.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.3673G>A",
"hgvs_p": "p.Val1225Ile",
"transcript": "ENST00000714180.1",
"protein_id": "ENSP00000519469.1",
"transcript_support_level": null,
"aa_start": 1225,
"aa_end": null,
"aa_length": 1644,
"cds_start": 3673,
"cds_end": null,
"cds_length": 4935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714180.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.3655G>A",
"hgvs_p": "p.Val1219Ile",
"transcript": "ENST00000714241.1",
"protein_id": "ENSP00000519521.1",
"transcript_support_level": null,
"aa_start": 1219,
"aa_end": null,
"aa_length": 1638,
"cds_start": 3655,
"cds_end": null,
"cds_length": 4917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714241.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.3652G>A",
"hgvs_p": "p.Val1218Ile",
"transcript": "ENST00000935242.1",
"protein_id": "ENSP00000605301.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1637,
"cds_start": 3652,
"cds_end": null,
"cds_length": 4914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935242.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.3766G>A",
"hgvs_p": "p.Val1256Ile",
"transcript": "ENST00000475458.3",
"protein_id": "ENSP00000461977.3",
"transcript_support_level": 2,
"aa_start": 1256,
"aa_end": null,
"aa_length": 1629,
"cds_start": 3766,
"cds_end": null,
"cds_length": 4890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000475458.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLTC",
"gene_hgnc_id": 2092,
"hgvs_c": "c.3592G>A",
"hgvs_p": "p.Val1198Ile",
"transcript": "ENST00000891782.1",
"protein_id": "ENSP00000561841.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1624,
"cds_start": 3592,
"cds_end": null,
"cds_length": 4875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891782.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
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{
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"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}