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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: 12-27583053-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=27583053&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 27583053,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000228425.11",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.-36+4814G>T",
"hgvs_p": null,
"transcript": "NM_003622.4",
"protein_id": "NP_003613.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1005,
"cds_start": -4,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5983,
"mane_select": "ENST00000228425.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.-36+4814G>T",
"hgvs_p": null,
"transcript": "ENST00000228425.11",
"protein_id": "ENSP00000228425.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1005,
"cds_start": -4,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5983,
"mane_select": "NM_003622.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.-36+4814G>T",
"hgvs_p": null,
"transcript": "ENST00000318304.12",
"protein_id": "ENSP00000314724.8",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1011,
"cds_start": -4,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.-36+4814G>T",
"hgvs_p": null,
"transcript": "ENST00000542629.5",
"protein_id": "ENSP00000443442.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 980,
"cds_start": -4,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.-190+4814G>T",
"hgvs_p": null,
"transcript": "ENST00000537927.5",
"protein_id": "ENSP00000445425.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 858,
"cds_start": -4,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.-36+4814G>T",
"hgvs_p": null,
"transcript": "ENST00000535047.5",
"protein_id": "ENSP00000444046.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 170,
"cds_start": -4,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "n.-36+4814G>T",
"hgvs_p": null,
"transcript": "ENST00000545381.5",
"protein_id": "ENSP00000445822.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1191,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.-36+4814G>T",
"hgvs_p": null,
"transcript": "NM_177444.3",
"protein_id": "NP_803193.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1011,
"cds_start": -4,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.-36+4814G>T",
"hgvs_p": null,
"transcript": "NM_001198916.2",
"protein_id": "NP_001185845.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 980,
"cds_start": -4,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
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"cdna_length": 5908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.-190+4814G>T",
"hgvs_p": null,
"transcript": "NM_001198915.2",
"protein_id": "NP_001185844.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 858,
"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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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.-133+4814G>T",
"hgvs_p": null,
"transcript": "ENST00000540114.5",
"protein_id": "ENSP00000444304.1",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "PPFIBP1",
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"transcript": "ENST00000545334.5",
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},
{
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],
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"gene_symbol": "PPFIBP1",
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"hgvs_c": "c.-36+4814G>T",
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"transcript": "ENST00000535575.1",
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},
{
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],
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"gene_symbol": "PPFIBP1",
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"hgvs_c": "c.-190+4814G>T",
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"transcript": "ENST00000538433.5",
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},
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],
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"hgvs_c": "n.281-1072G>T",
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"transcript": "ENST00000541633.5",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "PPFIBP1",
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"hgvs_c": "c.-36+4144G>T",
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"transcript": "XM_017020056.3",
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],
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},
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],
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"gene_symbol": "PPFIBP1",
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"hgvs_c": "c.-36+4814G>T",
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],
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},
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],
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"gene_symbol": "PPFIBP1",
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"hgvs_c": "c.-36+4814G>T",
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},
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.-36+4814G>T",
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