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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: 14-94387927-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=94387927&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 94387927,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000393087.9",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.-5+633G>A",
"hgvs_p": null,
"transcript": "NM_000295.5",
"protein_id": "NP_000286.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": "ENST00000393087.9",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.-5+633G>A",
"hgvs_p": null,
"transcript": "ENST00000393087.9",
"protein_id": "ENSP00000376802.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": "NM_000295.5",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.-5+2493G>A",
"hgvs_p": null,
"transcript": "ENST00000355814.8",
"protein_id": "ENSP00000348068.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3236,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.-5+633G>A",
"hgvs_p": null,
"transcript": "ENST00000393088.8",
"protein_id": "ENSP00000376803.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1885,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.-5+633G>A",
"hgvs_p": null,
"transcript": "ENST00000404814.8",
"protein_id": "ENSP00000385960.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1628,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.-5+633G>A",
"hgvs_p": null,
"transcript": "ENST00000437397.5",
"protein_id": "ENSP00000408474.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
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"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3340,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.-5+2530G>A",
"hgvs_p": null,
"transcript": "ENST00000440909.5",
"protein_id": "ENSP00000390299.1",
"transcript_support_level": 1,
"aa_start": null,
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"aa_length": 418,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.-5+633G>A",
"hgvs_p": null,
"transcript": "ENST00000448921.5",
"protein_id": "ENSP00000416066.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3532,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SERPINA1",
"gene_hgnc_id": 8941,
"hgvs_c": "c.-5+633G>A",
"hgvs_p": null,
"transcript": "ENST00000449399.7",
"protein_id": "ENSP00000416354.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 4,
"intron_rank": 1,
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"gene_symbol": "SERPINA1",
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"hgvs_c": "c.-5+633G>A",
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"transcript": "ENST00000402629.1",
"protein_id": "ENSP00000386094.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "SERPINA1",
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"hgvs_c": "c.-5+2530G>A",
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"transcript": "NM_001002235.3",
"protein_id": "NP_001002235.1",
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},
{
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],
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"gene_symbol": "SERPINA1",
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},
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],
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"gene_symbol": "SERPINA1",
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"hgvs_c": "c.-5+2493G>A",
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},
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],
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"gene_symbol": "SERPINA1",
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],
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],
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"gene_symbol": "SERPINA1",
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],
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},
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],
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"gene_symbol": "SERPINA1",
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