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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: 11-7578974-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=7578974&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 7578974,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000299492.9",
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+13207G>A",
"hgvs_p": null,
"transcript": "NM_003621.5",
"protein_id": "NP_003612.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 876,
"cds_start": -4,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3328,
"mane_select": "ENST00000299492.9",
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+13207G>A",
"hgvs_p": null,
"transcript": "ENST00000299492.9",
"protein_id": "ENSP00000299492.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 876,
"cds_start": -4,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3328,
"mane_select": "NM_003621.5",
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.-196+2458G>A",
"hgvs_p": null,
"transcript": "ENST00000533792.5",
"protein_id": "ENSP00000436498.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 718,
"cds_start": -4,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.72G>A",
"hgvs_p": "p.Thr24Thr",
"transcript": "NM_001351860.2",
"protein_id": "NP_001338789.2",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 807,
"cds_start": 72,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 3974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.72G>A",
"hgvs_p": "p.Thr24Thr",
"transcript": "XM_011520417.3",
"protein_id": "XP_011518719.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 858,
"cds_start": 72,
"cds_end": null,
"cds_length": 2577,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 4932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.72G>A",
"hgvs_p": "p.Thr24Thr",
"transcript": "XM_047427752.1",
"protein_id": "XP_047283708.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 847,
"cds_start": 72,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 4899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC105376535",
"gene_hgnc_id": null,
"hgvs_c": "n.5908C>T",
"hgvs_p": null,
"transcript": "XR_007062577.1",
"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": 5938,
"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": 26,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+13207G>A",
"hgvs_p": null,
"transcript": "NM_001351853.2",
"protein_id": "NP_001338782.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 928,
"cds_start": -4,
"cds_end": null,
"cds_length": 2787,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3060,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+13207G>A",
"hgvs_p": null,
"transcript": "ENST00000684123.1",
"protein_id": "ENSP00000507842.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 927,
"cds_start": -4,
"cds_end": null,
"cds_length": 2784,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3274,
"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": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+13207G>A",
"hgvs_p": null,
"transcript": "NM_001351854.2",
"protein_id": "NP_001338783.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 917,
"cds_start": -4,
"cds_end": null,
"cds_length": 2754,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3027,
"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": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+13207G>A",
"hgvs_p": null,
"transcript": "NM_001351855.2",
"protein_id": "NP_001338784.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 887,
"cds_start": -4,
"cds_end": null,
"cds_length": 2664,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3361,
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+13207G>A",
"hgvs_p": null,
"transcript": "NM_001351856.2",
"protein_id": "NP_001338785.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 878,
"cds_start": -4,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3334,
"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": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+13207G>A",
"hgvs_p": null,
"transcript": "NM_001351862.2",
"protein_id": "NP_001338791.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 876,
"cds_start": -4,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3484,
"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": 25,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.48+1336G>A",
"hgvs_p": null,
"transcript": "NM_001351857.2",
"protein_id": "NP_001338786.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.48+1336G>A",
"hgvs_p": null,
"transcript": "NM_001351858.2",
"protein_id": "NP_001338787.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 840,
"cds_start": -4,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
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"cdna_length": 3188,
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.48+1336G>A",
"hgvs_p": null,
"transcript": "NM_001351859.2",
"protein_id": "NP_001338788.2",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.48+1336G>A",
"hgvs_p": null,
"transcript": "ENST00000684215.1",
"protein_id": "ENSP00000507694.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 810,
"cds_start": -4,
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"cds_length": 2433,
"cdna_start": null,
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"cdna_length": 3563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.48+1336G>A",
"hgvs_p": null,
"transcript": "NM_001351861.2",
"protein_id": "NP_001338790.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 799,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3489,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.279+13207G>A",
"hgvs_p": null,
"transcript": "ENST00000527790.5",
"protein_id": "ENSP00000434981.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 169,
"cds_start": -4,
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"cdna_start": null,
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"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.-196+1813G>A",
"hgvs_p": null,
"transcript": "ENST00000650027.1",
"protein_id": "ENSP00000497082.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.-196+4952G>A",
"hgvs_p": null,
"transcript": "ENST00000529575.5",
"protein_id": "ENSP00000435794.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 154,
"cds_start": -4,
"cds_end": null,
"cds_length": 467,
"cdna_start": null,
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"cdna_length": 780,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.141+13207G>A",
"hgvs_p": null,
"transcript": "ENST00000524548.5",
"protein_id": "ENSP00000433917.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": -4,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 407,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "PPFIBP2",
"gene_hgnc_id": 9250,
"hgvs_c": "c.-196+1813G>A",
"hgvs_p": null,
"transcript": "ENST00000525597.5",
"protein_id": "ENSP00000433839.1",
"transcript_support_level": 4,
"aa_start": null,
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