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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: 2-219222875-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219222875&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219222875,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_024085.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG9A",
"gene_hgnc_id": 22408,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"transcript": "NM_001077198.3",
"protein_id": "NP_001070666.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 839,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361242.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077198.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG9A",
"gene_hgnc_id": 22408,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"transcript": "ENST00000361242.9",
"protein_id": "ENSP00000355173.4",
"transcript_support_level": 2,
"aa_start": 540,
"aa_end": null,
"aa_length": 839,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001077198.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361242.9"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG9A",
"gene_hgnc_id": 22408,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"transcript": "ENST00000396761.6",
"protein_id": "ENSP00000379983.2",
"transcript_support_level": 1,
"aa_start": 540,
"aa_end": null,
"aa_length": 839,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396761.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG9A",
"gene_hgnc_id": 22408,
"hgvs_c": "n.1559A>G",
"hgvs_p": null,
"transcript": "ENST00000409033.7",
"protein_id": "ENSP00000386482.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000409033.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG9A",
"gene_hgnc_id": 22408,
"hgvs_c": "c.1702A>G",
"hgvs_p": "p.Thr568Ala",
"transcript": "ENST00000915618.1",
"protein_id": "ENSP00000585677.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 867,
"cds_start": 1702,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915618.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG9A",
"gene_hgnc_id": 22408,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"transcript": "ENST00000944423.1",
"protein_id": "ENSP00000614482.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 863,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944423.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG9A",
"gene_hgnc_id": 22408,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"transcript": "ENST00000901776.1",
"protein_id": "ENSP00000571835.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 841,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901776.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG9A",
"gene_hgnc_id": 22408,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"transcript": "ENST00000915620.1",
"protein_id": "ENSP00000585679.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 841,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915620.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG9A",
"gene_hgnc_id": 22408,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"transcript": "NM_024085.5",
"protein_id": "NP_076990.4",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 839,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024085.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG9A",
"gene_hgnc_id": 22408,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"transcript": "ENST00000409618.5",
"protein_id": "ENSP00000386710.1",
"transcript_support_level": 5,
"aa_start": 540,
"aa_end": null,
"aa_length": 839,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409618.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG9A",
"gene_hgnc_id": 22408,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"transcript": "ENST00000901769.1",
"protein_id": "ENSP00000571828.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 839,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901769.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG9A",
"gene_hgnc_id": 22408,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"transcript": "ENST00000901770.1",
"protein_id": "ENSP00000571829.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 839,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901770.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG9A",
"gene_hgnc_id": 22408,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"transcript": "ENST00000901772.1",
"protein_id": "ENSP00000571831.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 839,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901772.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG9A",
"gene_hgnc_id": 22408,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"transcript": "ENST00000901773.1",
"protein_id": "ENSP00000571832.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 839,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901773.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG9A",
"gene_hgnc_id": 22408,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"transcript": "ENST00000901777.1",
"protein_id": "ENSP00000571836.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 839,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901777.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG9A",
"gene_hgnc_id": 22408,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"transcript": "ENST00000901779.1",
"protein_id": "ENSP00000571838.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 839,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901779.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG9A",
"gene_hgnc_id": 22408,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"transcript": "ENST00000901780.1",
"protein_id": "ENSP00000571839.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 839,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901780.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG9A",
"gene_hgnc_id": 22408,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"transcript": "ENST00000901781.1",
"protein_id": "ENSP00000571840.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 839,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901781.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG9A",
"gene_hgnc_id": 22408,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"transcript": "ENST00000901783.1",
"protein_id": "ENSP00000571842.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 839,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901783.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG9A",
"gene_hgnc_id": 22408,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"transcript": "ENST00000901784.1",
"protein_id": "ENSP00000571843.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 839,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901784.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG9A",
"gene_hgnc_id": 22408,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"transcript": "ENST00000915619.1",
"protein_id": "ENSP00000585678.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 839,
"cds_start": 1618,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915619.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG9A",
"gene_hgnc_id": 22408,
"hgvs_c": "c.1618A>G",
"hgvs_p": "p.Thr540Ala",
"transcript": "ENST00000944422.1",
"protein_id": "ENSP00000614481.1",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 839,
"cds_start": 1618,
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{
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],
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}