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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: 21-38299719-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=38299719&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 38299719,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002243.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "NM_170736.3",
"protein_id": "NP_733932.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 375,
"cds_start": 458,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398938.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170736.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "ENST00000398938.7",
"protein_id": "ENSP00000381911.2",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 375,
"cds_start": 458,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_170736.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398938.7"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "ENST00000328656.8",
"protein_id": "ENSP00000331698.3",
"transcript_support_level": 1,
"aa_start": 153,
"aa_end": null,
"aa_length": 375,
"cds_start": 458,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000328656.8"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "NM_001276435.2",
"protein_id": "NP_001263364.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 375,
"cds_start": 458,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276435.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "NM_001276436.2",
"protein_id": "NP_001263365.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 375,
"cds_start": 458,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276436.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "NM_001276437.2",
"protein_id": "NP_001263366.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 375,
"cds_start": 458,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276437.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "NM_001276438.2",
"protein_id": "NP_001263367.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 375,
"cds_start": 458,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276438.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "NM_001276439.2",
"protein_id": "NP_001263368.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 375,
"cds_start": 458,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001276439.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "NM_002243.5",
"protein_id": "NP_002234.2",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 375,
"cds_start": 458,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002243.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "NM_170737.3",
"protein_id": "NP_733933.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 375,
"cds_start": 458,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170737.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "ENST00000398930.5",
"protein_id": "ENSP00000381904.1",
"transcript_support_level": 5,
"aa_start": 153,
"aa_end": null,
"aa_length": 375,
"cds_start": 458,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398930.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "ENST00000398932.5",
"protein_id": "ENSP00000381905.1",
"transcript_support_level": 5,
"aa_start": 153,
"aa_end": null,
"aa_length": 375,
"cds_start": 458,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398932.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "ENST00000398934.5",
"protein_id": "ENSP00000381907.1",
"transcript_support_level": 3,
"aa_start": 153,
"aa_end": null,
"aa_length": 375,
"cds_start": 458,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398934.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "ENST00000612702.4",
"protein_id": "ENSP00000484960.1",
"transcript_support_level": 4,
"aa_start": 153,
"aa_end": null,
"aa_length": 375,
"cds_start": 458,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612702.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "ENST00000613499.4",
"protein_id": "ENSP00000479100.1",
"transcript_support_level": 4,
"aa_start": 153,
"aa_end": null,
"aa_length": 375,
"cds_start": 458,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613499.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "ENST00000866348.1",
"protein_id": "ENSP00000536407.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 375,
"cds_start": 458,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866348.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "ENST00000866349.1",
"protein_id": "ENSP00000536408.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 375,
"cds_start": 458,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866349.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "ENST00000866350.1",
"protein_id": "ENSP00000536409.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 375,
"cds_start": 458,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866350.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "ENST00000866351.1",
"protein_id": "ENSP00000536410.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 375,
"cds_start": 458,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866351.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "ENST00000866352.1",
"protein_id": "ENSP00000536411.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 375,
"cds_start": 458,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866352.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "ENST00000866353.1",
"protein_id": "ENSP00000536412.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 375,
"cds_start": 458,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866353.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KCNJ15",
"gene_hgnc_id": 6261,
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met",
"transcript": "ENST00000866354.1",
"protein_id": "ENSP00000536413.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 375,
"cds_start": 458,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"hgnc_id": 6261,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.458C>T",
"hgvs_p": "p.Thr153Met"
}
],
"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
}