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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: 10-44904958-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=44904958&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 44904958,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000450287.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000234504",
"gene_hgnc_id": null,
"hgvs_c": "n.532+1927C>T",
"hgvs_p": null,
"transcript": "ENST00000436877.2",
"protein_id": null,
"transcript_support_level": 5,
"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": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM72-AS1",
"gene_hgnc_id": 27349,
"hgvs_c": "n.244+18123C>T",
"hgvs_p": null,
"transcript": "ENST00000450287.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 3300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM72-AS1",
"gene_hgnc_id": 27349,
"hgvs_c": "n.177+18123C>T",
"hgvs_p": null,
"transcript": "ENST00000656140.1",
"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": 2177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM72-AS1",
"gene_hgnc_id": 27349,
"hgvs_c": "n.123+18123C>T",
"hgvs_p": null,
"transcript": "ENST00000657040.1",
"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": 1264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM72-AS1",
"gene_hgnc_id": 27349,
"hgvs_c": "n.191+18123C>T",
"hgvs_p": null,
"transcript": "ENST00000657941.1",
"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": 2286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM72-AS1",
"gene_hgnc_id": 27349,
"hgvs_c": "n.193+18123C>T",
"hgvs_p": null,
"transcript": "ENST00000659046.1",
"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": 3416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM72-AS1",
"gene_hgnc_id": 27349,
"hgvs_c": "n.216+18123C>T",
"hgvs_p": null,
"transcript": "ENST00000659078.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 4391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMEM72-AS1",
"gene_hgnc_id": 27349,
"hgvs_c": "n.264+18123C>T",
"hgvs_p": null,
"transcript": "ENST00000659185.1",
"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": 2438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM72-AS1",
"gene_hgnc_id": 27349,
"hgvs_c": "n.71-19658C>T",
"hgvs_p": null,
"transcript": "ENST00000659737.1",
"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": 2656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
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"gene_symbol": "TMEM72-AS1",
"gene_hgnc_id": 27349,
"hgvs_c": "n.48-19658C>T",
"hgvs_p": null,
"transcript": "ENST00000659915.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_length": 2415,
"mane_select": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM72-AS1",
"gene_hgnc_id": 27349,
"hgvs_c": "n.332+18123C>T",
"hgvs_p": null,
"transcript": "ENST00000659921.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
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"exon_count": 6,
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"gene_symbol": "TMEM72-AS1",
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"hgvs_c": "n.216+18123C>T",
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"transcript": "ENST00000660870.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "TMEM72-AS1",
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"hgvs_c": "n.193+18123C>T",
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"transcript": "ENST00000663109.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "TMEM72-AS1",
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},
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],
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "TMEM72-AS1",
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"hgvs_c": "n.211+18123C>T",
"hgvs_p": null,
"transcript": "ENST00000667765.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "TMEM72-AS1",
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"transcript": "ENST00000669460.1",
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},
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "TMEM72-AS1",
"gene_hgnc_id": 27349,
"hgvs_c": "n.119-19658C>T",
"hgvs_p": null,
"transcript": "ENST00000670425.1",
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],
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],
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},
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],
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},
{
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"consequences": [
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],
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"exon_count": 7,
"intron_rank": 2,
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"gene_symbol": "TMEM72-AS1",
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"hgvs_c": "n.279+18123C>T",
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"transcript": "ENST00000717482.1",
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},
{
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"consequences": [
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],
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"exon_count": 5,
"intron_rank": 2,
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{
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"verdict": "Benign",
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{
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"verdict": "Benign",
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],
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"clinvar_review_status": "",
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}
],
"message": null
}