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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: 21-33722604-C-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=33722604&ref=C&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 33722604,
"ref": "C",
"alt": "CT",
"effect": "frameshift_variant",
"transcript": "NM_003024.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.147dupT",
"hgvs_p": "p.Gln50fs",
"transcript": "NM_003024.3",
"protein_id": "NP_003015.2",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 1721,
"cds_start": 148,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381318.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003024.3"
},
{
"aa_ref": "Q",
"aa_alt": "S?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.147dupT",
"hgvs_p": "p.Gln50fs",
"transcript": "ENST00000381318.8",
"protein_id": "ENSP00000370719.3",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 1721,
"cds_start": 148,
"cds_end": null,
"cds_length": 5166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003024.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381318.8"
},
{
"aa_ref": "Q",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.147dupT",
"hgvs_p": "p.Gln50fs",
"transcript": "ENST00000399367.7",
"protein_id": "ENSP00000382301.3",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 1716,
"cds_start": 148,
"cds_end": null,
"cds_length": 5151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399367.7"
},
{
"aa_ref": "Q",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.147dupT",
"hgvs_p": "p.Gln50fs",
"transcript": "ENST00000381291.8",
"protein_id": "ENSP00000370691.4",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 1220,
"cds_start": 148,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381291.8"
},
{
"aa_ref": "Q",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.147dupT",
"hgvs_p": "p.Gln50fs",
"transcript": "ENST00000399352.5",
"protein_id": "ENSP00000382289.1",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 1215,
"cds_start": 148,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399352.5"
},
{
"aa_ref": "Q",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.147dupT",
"hgvs_p": "p.Gln50fs",
"transcript": "ENST00000399353.5",
"protein_id": "ENSP00000382290.1",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 1178,
"cds_start": 148,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399353.5"
},
{
"aa_ref": "Q",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.147dupT",
"hgvs_p": "p.Gln50fs",
"transcript": "ENST00000399355.6",
"protein_id": "ENSP00000382292.2",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 1149,
"cds_start": 148,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399355.6"
},
{
"aa_ref": "Q",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.147dupT",
"hgvs_p": "p.Gln50fs",
"transcript": "ENST00000399349.5",
"protein_id": "ENSP00000382286.1",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 1144,
"cds_start": 148,
"cds_end": null,
"cds_length": 3435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399349.5"
},
{
"aa_ref": "Q",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.147dupT",
"hgvs_p": "p.Gln50fs",
"transcript": "ENST00000399338.8",
"protein_id": "ENSP00000382275.4",
"transcript_support_level": 1,
"aa_start": 50,
"aa_end": null,
"aa_length": 1020,
"cds_start": 148,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399338.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ENSG00000249209",
"gene_hgnc_id": null,
"hgvs_c": "c.442-136424dupA",
"hgvs_p": null,
"transcript": "ENST00000429238.2",
"protein_id": "ENSP00000394107.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": null,
"cds_end": null,
"cds_length": 727,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429238.2"
},
{
"aa_ref": "Q",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.147dupT",
"hgvs_p": "p.Gln50fs",
"transcript": "NM_001331010.2",
"protein_id": "NP_001317939.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 1716,
"cds_start": 148,
"cds_end": null,
"cds_length": 5151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331010.2"
},
{
"aa_ref": "Q",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.147dupT",
"hgvs_p": "p.Gln50fs",
"transcript": "NM_001001132.2",
"protein_id": "NP_001001132.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 1220,
"cds_start": 148,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001132.2"
},
{
"aa_ref": "Q",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.147dupT",
"hgvs_p": "p.Gln50fs",
"transcript": "NM_001331009.2",
"protein_id": "NP_001317938.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 1215,
"cds_start": 148,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331009.2"
},
{
"aa_ref": "Q",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.147dupT",
"hgvs_p": "p.Gln50fs",
"transcript": "NM_001331012.2",
"protein_id": "NP_001317941.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 1178,
"cds_start": 148,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331012.2"
},
{
"aa_ref": "Q",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.147dupT",
"hgvs_p": "p.Gln50fs",
"transcript": "NM_001331008.2",
"protein_id": "NP_001317937.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 1149,
"cds_start": 148,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331008.2"
},
{
"aa_ref": "Q",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.147dupT",
"hgvs_p": "p.Gln50fs",
"transcript": "NM_001331011.2",
"protein_id": "NP_001317940.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 1144,
"cds_start": 148,
"cds_end": null,
"cds_length": 3435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331011.2"
},
{
"aa_ref": "Q",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.147dupT",
"hgvs_p": "p.Gln50fs",
"transcript": "ENST00000381283.7",
"protein_id": "ENSP00000370683.3",
"transcript_support_level": 5,
"aa_start": 50,
"aa_end": null,
"aa_length": 360,
"cds_start": 148,
"cds_end": null,
"cds_length": 1084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381283.7"
},
{
"aa_ref": "Q",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.147dupT",
"hgvs_p": "p.Gln50fs",
"transcript": "ENST00000444491.5",
"protein_id": "ENSP00000400079.1",
"transcript_support_level": 4,
"aa_start": 50,
"aa_end": null,
"aa_length": 114,
"cds_start": 148,
"cds_end": null,
"cds_length": 346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444491.5"
},
{
"aa_ref": "Q",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.147dupT",
"hgvs_p": "p.Gln50fs",
"transcript": "ENST00000451686.5",
"protein_id": "ENSP00000407132.1",
"transcript_support_level": 4,
"aa_start": 50,
"aa_end": null,
"aa_length": 77,
"cds_start": 148,
"cds_end": null,
"cds_length": 235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451686.5"
},
{
"aa_ref": "Q",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.147dupT",
"hgvs_p": "p.Gln50fs",
"transcript": "XM_017028428.2",
"protein_id": "XP_016883917.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 1721,
"cds_start": 148,
"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": "XM_017028428.2"
},
{
"aa_ref": "Q",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.147dupT",
"hgvs_p": "p.Gln50fs",
"transcript": "XM_017028429.3",
"protein_id": "XP_016883918.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 1684,
"cds_start": 148,
"cds_end": null,
"cds_length": 5055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017028429.3"
},
{
"aa_ref": "Q",
"aa_alt": "S?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITSN1",
"gene_hgnc_id": 6183,
"hgvs_c": "c.147dupT",
"hgvs_p": "p.Gln50fs",
"transcript": "XM_017028430.3",
"protein_id": "XP_016883919.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 1679,
"cds_start": 148,
"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": "XM_017028430.3"
},
{
"aa_ref": "Q",
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{
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}