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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: 1-225528539-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=225528539&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 225528539,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_018212.6",
"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": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.434+2015C>T",
"hgvs_p": null,
"transcript": "NM_018212.6",
"protein_id": "NP_060682.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": -4,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13092,
"mane_select": "ENST00000366843.7",
"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": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.434+2015C>T",
"hgvs_p": null,
"transcript": "ENST00000366843.7",
"protein_id": "ENSP00000355808.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 570,
"cds_start": -4,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13092,
"mane_select": "NM_018212.6",
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.434+2015C>T",
"hgvs_p": null,
"transcript": "ENST00000366844.7",
"protein_id": "ENSP00000355809.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 591,
"cds_start": -4,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13168,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.284+2015C>T",
"hgvs_p": null,
"transcript": "ENST00000497899.6",
"protein_id": "ENSP00000489106.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 241,
"cds_start": -4,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 807,
"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.491+2015C>T",
"hgvs_p": null,
"transcript": "NM_001420159.1",
"protein_id": "NP_001407088.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 838,
"cds_start": -4,
"cds_end": null,
"cds_length": 2517,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13896,
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.434+2015C>T",
"hgvs_p": null,
"transcript": "NM_001420160.1",
"protein_id": "NP_001407089.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 819,
"cds_start": -4,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
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"cdna_length": 13839,
"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": 15,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.446+2015C>T",
"hgvs_p": null,
"transcript": "ENST00000635051.1",
"protein_id": "ENSP00000489607.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 802,
"cds_start": -4,
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"cds_length": 2409,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.434+2015C>T",
"hgvs_p": null,
"transcript": "NM_001420161.1",
"protein_id": "NP_001407090.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 798,
"cds_start": -4,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13776,
"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENAH",
"gene_hgnc_id": 18271,
"hgvs_c": "c.491+2015C>T",
"hgvs_p": null,
"transcript": "NM_001377481.1",
"protein_id": "NP_001364410.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 610,
"cds_start": -4,
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"cds_length": 1833,
"cdna_start": null,
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"cdna_length": 13212,
"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "ENAH",
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"hgvs_c": "c.434+2015C>T",
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"transcript": "NM_001008493.3",
"protein_id": "NP_001008493.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "ENAH",
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"hgvs_c": "c.491+2015C>T",
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"transcript": "NM_001377482.1",
"protein_id": "NP_001364411.1",
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],
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],
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},
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],
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