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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: 11-70302968-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=70302968&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 70302968,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001378006.1",
"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": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.265-21434G>A",
"hgvs_p": null,
"transcript": "NM_003626.5",
"protein_id": "NP_003617.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": null,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000253925.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003626.5"
},
{
"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": 28,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.265-21434G>A",
"hgvs_p": null,
"transcript": "ENST00000253925.12",
"protein_id": "ENSP00000253925.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": null,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003626.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253925.12"
},
{
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.265-21434G>A",
"hgvs_p": null,
"transcript": "ENST00000389547.7",
"protein_id": "ENSP00000374198.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1185,
"cds_start": null,
"cds_end": null,
"cds_length": 3558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389547.7"
},
{
"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": 29,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "n.265-21434G>A",
"hgvs_p": null,
"transcript": "ENST00000532504.5",
"protein_id": "ENSP00000433619.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000532504.5"
},
{
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.265-21434G>A",
"hgvs_p": null,
"transcript": "NM_001378006.1",
"protein_id": "NP_001364935.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1267,
"cds_start": null,
"cds_end": null,
"cds_length": 3804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378006.1"
},
{
"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": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.265-21434G>A",
"hgvs_p": null,
"transcript": "ENST00000966186.1",
"protein_id": "ENSP00000636245.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1227,
"cds_start": null,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966186.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.208-21434G>A",
"hgvs_p": null,
"transcript": "ENST00000644155.1",
"protein_id": "ENSP00000496327.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1223,
"cds_start": null,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644155.1"
},
{
"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": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.265-21434G>A",
"hgvs_p": null,
"transcript": "ENST00000915567.1",
"protein_id": "ENSP00000585626.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1223,
"cds_start": null,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915567.1"
},
{
"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": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.265-21434G>A",
"hgvs_p": null,
"transcript": "ENST00000851268.1",
"protein_id": "ENSP00000521327.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1212,
"cds_start": null,
"cds_end": null,
"cds_length": 3639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851268.1"
},
{
"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": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.265-21434G>A",
"hgvs_p": null,
"transcript": "ENST00000851267.1",
"protein_id": "ENSP00000521326.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1203,
"cds_start": null,
"cds_end": null,
"cds_length": 3612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851267.1"
},
{
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.265-21434G>A",
"hgvs_p": null,
"transcript": "NM_177423.3",
"protein_id": "NP_803172.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1185,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177423.3"
},
{
"aa_ref": null,
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"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": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.265-21434G>A",
"hgvs_p": null,
"transcript": "ENST00000966187.1",
"protein_id": "ENSP00000636246.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1182,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966187.1"
},
{
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"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": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.265-21434G>A",
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"transcript": "ENST00000915570.1",
"protein_id": "ENSP00000585629.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1181,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000915570.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 27,
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"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.265-21434G>A",
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"transcript": "ENST00000851269.1",
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"biotype": "protein_coding",
"feature": "ENST00000851269.1"
},
{
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"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": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.265-21434G>A",
"hgvs_p": null,
"transcript": "ENST00000915568.1",
"protein_id": "ENSP00000585627.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1154,
"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915568.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 2,
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"gene_symbol": "PPFIA1",
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"hgvs_c": "c.265-21434G>A",
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"transcript": "ENST00000915569.1",
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000915569.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.265-21434G>A",
"hgvs_p": null,
"transcript": "ENST00000530746.1",
"protein_id": "ENSP00000432722.1",
"transcript_support_level": 3,
"aa_start": null,
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"aa_length": 157,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000530746.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.265-21434G>A",
"hgvs_p": null,
"transcript": "ENST00000532024.1",
"protein_id": "ENSP00000432065.1",
"transcript_support_level": 3,
"aa_start": null,
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"cdna_start": null,
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"feature": "ENST00000532024.1"
},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 33,
"intron_rank": 2,
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"gene_symbol": "PPFIA1",
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"hgvs_c": "c.265-21434G>A",
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"transcript": "XM_006718716.4",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
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"hgvs_c": "c.265-21434G>A",
"hgvs_p": null,
"transcript": "XM_011545306.4",
"protein_id": "XP_011543608.1",
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"feature": "XM_011545306.4"
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.265-21434G>A",
"hgvs_p": null,
"transcript": "XM_011545307.4",
"protein_id": "XP_011543609.1",
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545307.4"
},
{
"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": 32,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPFIA1",
"gene_hgnc_id": 9245,
"hgvs_c": "c.265-21434G>A",
"hgvs_p": null,
"transcript": "XM_011545308.4",
"protein_id": "XP_011543610.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545308.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
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"BA1"
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{
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{
"score": -12,
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}
],
"message": null
}