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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: 14-68909762-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=68909762&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 68909762,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000394419.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.515+193T>A",
"hgvs_p": null,
"transcript": "NM_001130004.2",
"protein_id": "NP_001123476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": -4,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": "ENST00000394419.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.515+193T>A",
"hgvs_p": null,
"transcript": "ENST00000394419.9",
"protein_id": "ENSP00000377941.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": -4,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": "NM_001130004.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.515+193T>A",
"hgvs_p": null,
"transcript": "ENST00000538545.6",
"protein_id": "ENSP00000439828.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 930,
"cds_start": -4,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.515+193T>A",
"hgvs_p": null,
"transcript": "ENST00000193403.11",
"protein_id": "ENSP00000193403.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 892,
"cds_start": -4,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.515+193T>A",
"hgvs_p": null,
"transcript": "ENST00000438964.6",
"protein_id": "ENSP00000414272.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 887,
"cds_start": -4,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "n.996T>A",
"hgvs_p": null,
"transcript": "ENST00000683780.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.515+193T>A",
"hgvs_p": null,
"transcript": "NM_001424012.1",
"protein_id": "NP_001410941.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 935,
"cds_start": -4,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.641+193T>A",
"hgvs_p": null,
"transcript": "NM_001424013.1",
"protein_id": "NP_001410942.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 934,
"cds_start": -4,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.515+193T>A",
"hgvs_p": null,
"transcript": "NM_001424014.1",
"protein_id": "NP_001410943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 930,
"cds_start": -4,
"cds_end": null,
"cds_length": 2793,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.515+193T>A",
"hgvs_p": null,
"transcript": "ENST00000683198.1",
"protein_id": "ENSP00000507889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 922,
"cds_start": -4,
"cds_end": null,
"cds_length": 2769,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.602+193T>A",
"hgvs_p": null,
"transcript": "NM_001424015.1",
"protein_id": "NP_001410944.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 921,
"cds_start": -4,
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"cds_length": 2766,
"cdna_start": null,
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"cdna_length": 4285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 5,
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"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.515+193T>A",
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"transcript": "ENST00000682291.1",
"protein_id": "ENSP00000507093.1",
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"aa_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 5,
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"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.515+193T>A",
"hgvs_p": null,
"transcript": "ENST00000683342.1",
"protein_id": "ENSP00000508301.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 902,
"cds_start": -4,
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"cdna_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 5,
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"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.515+193T>A",
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"transcript": "NM_001424016.1",
"protein_id": "NP_001410945.1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "ACTN1",
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"hgvs_c": "c.515+193T>A",
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"transcript": "NM_001411035.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 5,
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"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.515+193T>A",
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"transcript": "ENST00000679147.1",
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},
{
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],
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"gene_symbol": "ACTN1",
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"hgvs_c": "c.515+193T>A",
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"transcript": "NM_001102.4",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 5,
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"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.512+193T>A",
"hgvs_p": null,
"transcript": "NM_001424017.1",
"protein_id": "NP_001410946.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.515+193T>A",
"hgvs_p": null,
"transcript": "NM_001130005.2",
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},
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],
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"gene_symbol": "ACTN1",
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"hgvs_c": "c.515+193T>A",
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},
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],
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"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.515+193T>A",
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},
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.452+193T>A",
"hgvs_p": null,
"transcript": "NM_001424018.1",
"protein_id": "NP_001410947.1",
"transcript_support_level": null,
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.515+193T>A",
"hgvs_p": null,
"transcript": "NM_001424019.1",
"protein_id": "NP_001410948.1",
"transcript_support_level": null,
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"mane_select": null,
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},
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}