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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: 2-144517279-G-GT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=144517279&ref=G&alt=GT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 144517279,
"ref": "G",
"alt": "GT",
"effect": "frameshift_variant,splice_region_variant",
"transcript": "ENST00000627532.3",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.71dupA",
"hgvs_p": "p.Asn24fs",
"transcript": "NM_014795.4",
"protein_id": "NP_055610.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 1214,
"cds_start": 71,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 9265,
"mane_select": "ENST00000627532.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.71dupA",
"hgvs_p": "p.Asn24fs",
"transcript": "ENST00000627532.3",
"protein_id": "ENSP00000487174.1",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 1214,
"cds_start": 71,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 9265,
"mane_select": "NM_014795.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.71dupA",
"hgvs_p": "p.Asn24fs",
"transcript": "ENST00000558170.6",
"protein_id": "ENSP00000454157.1",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 1214,
"cds_start": 71,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 4012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.71dupA",
"hgvs_p": "p.Asn24fs",
"transcript": "ENST00000303660.8",
"protein_id": "ENSP00000302501.4",
"transcript_support_level": 1,
"aa_start": 24,
"aa_end": null,
"aa_length": 1213,
"cds_start": 71,
"cds_end": null,
"cds_length": 3642,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 3913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.158dupA",
"hgvs_p": "p.Asn53fs",
"transcript": "ENST00000427902.5",
"protein_id": "ENSP00000395496.2",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 730,
"cds_start": 158,
"cds_end": null,
"cds_length": 2194,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.155dupA",
"hgvs_p": "p.Asn52fs",
"transcript": "ENST00000392861.6",
"protein_id": "ENSP00000376601.3",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 466,
"cds_start": 155,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 1514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.158dupA",
"hgvs_p": "p.Asn53fs",
"transcript": "ENST00000470879.5",
"protein_id": "ENSP00000475329.2",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 87,
"cds_start": 158,
"cds_end": null,
"cds_length": 264,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "n.321dupA",
"hgvs_p": null,
"transcript": "ENST00000472146.5",
"protein_id": null,
"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": 3837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "n.71dupA",
"hgvs_p": null,
"transcript": "ENST00000484313.3",
"protein_id": "ENSP00000486341.1",
"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": 845,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.71dupA",
"hgvs_p": "p.Asn24fs",
"transcript": "ENST00000636471.1",
"protein_id": "ENSP00000490317.1",
"transcript_support_level": 5,
"aa_start": 24,
"aa_end": null,
"aa_length": 1239,
"cds_start": 71,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 9583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.71dupA",
"hgvs_p": "p.Asn24fs",
"transcript": "ENST00000409487.7",
"protein_id": "ENSP00000386854.2",
"transcript_support_level": 5,
"aa_start": 24,
"aa_end": null,
"aa_length": 1214,
"cds_start": 71,
"cds_end": null,
"cds_length": 3645,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 5361,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.71dupA",
"hgvs_p": "p.Asn24fs",
"transcript": "ENST00000636026.2",
"protein_id": "ENSP00000490776.1",
"transcript_support_level": 5,
"aa_start": 24,
"aa_end": null,
"aa_length": 1202,
"cds_start": 71,
"cds_end": null,
"cds_length": 3609,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 5172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.71dupA",
"hgvs_p": "p.Asn24fs",
"transcript": "NM_001171653.2",
"protein_id": "NP_001165124.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 1190,
"cds_start": 71,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 9193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.71dupA",
"hgvs_p": "p.Asn24fs",
"transcript": "ENST00000539609.7",
"protein_id": "ENSP00000443792.2",
"transcript_support_level": 2,
"aa_start": 24,
"aa_end": null,
"aa_length": 1190,
"cds_start": 71,
"cds_end": null,
"cds_length": 3573,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.71dupA",
"hgvs_p": "p.Asn24fs",
"transcript": "ENST00000637267.2",
"protein_id": "ENSP00000490293.2",
"transcript_support_level": 5,
"aa_start": 24,
"aa_end": null,
"aa_length": 611,
"cds_start": 71,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.71dupA",
"hgvs_p": "p.Asn24fs",
"transcript": "ENST00000419938.5",
"protein_id": "ENSP00000394777.2",
"transcript_support_level": 2,
"aa_start": 24,
"aa_end": null,
"aa_length": 220,
"cds_start": 71,
"cds_end": null,
"cds_length": 663,
"cdna_start": 304,
"cdna_end": null,
"cdna_length": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.71dupA",
"hgvs_p": "p.Asn24fs",
"transcript": "ENST00000431672.4",
"protein_id": "ENSP00000475267.2",
"transcript_support_level": 4,
"aa_start": 24,
"aa_end": null,
"aa_length": 183,
"cds_start": 71,
"cds_end": null,
"cds_length": 553,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.71dupA",
"hgvs_p": "p.Asn24fs",
"transcript": "ENST00000465308.5",
"protein_id": "ENSP00000487476.1",
"transcript_support_level": 5,
"aa_start": 24,
"aa_end": null,
"aa_length": 140,
"cds_start": 71,
"cds_end": null,
"cds_length": 425,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 1071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.71dupA",
"hgvs_p": "p.Asn24fs",
"transcript": "ENST00000409211.5",
"protein_id": "ENSP00000387256.2",
"transcript_support_level": 4,
"aa_start": 24,
"aa_end": null,
"aa_length": 119,
"cds_start": 71,
"cds_end": null,
"cds_length": 360,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.71dupA",
"hgvs_p": "p.Asn24fs",
"transcript": "ENST00000435831.5",
"protein_id": "ENSP00000400993.1",
"transcript_support_level": 4,
"aa_start": 24,
"aa_end": null,
"aa_length": 90,
"cds_start": 71,
"cds_end": null,
"cds_length": 274,
"cdna_start": 351,
"cdna_end": null,
"cdna_length": 554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.71dupA",
"hgvs_p": "p.Asn24fs",
"transcript": "ENST00000444559.5",
"protein_id": "ENSP00000399451.1",
"transcript_support_level": 4,
"aa_start": 24,
"aa_end": null,
"aa_length": 62,
"cds_start": 71,
"cds_end": null,
"cds_length": 189,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZEB2",
"gene_hgnc_id": 14881,
"hgvs_c": "c.71dupA",
"hgvs_p": "p.Asn24fs",
"transcript": "ENST00000462355.2",
"protein_id": "ENSP00000475400.1",
"transcript_support_level": 4,
"aa_start": 24,
"aa_end": null,
"aa_length": 58,
"cds_start": 71,
"cds_end": null,
"cds_length": 177,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K?",
"canonical": false,
"protein_coding": true,
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"phenotype_combined": "Mowat-Wilson syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}