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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: 1-148960744-G-GA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=148960744&ref=G&alt=GA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 148960744,
"ref": "G",
"alt": "GA",
"effect": "frameshift_variant",
"transcript": "ENST00000695795.1",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.927dupA",
"hgvs_p": "p.Leu310fs",
"transcript": "NM_001395426.1",
"protein_id": "NP_001382355.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 2412,
"cds_start": 928,
"cds_end": null,
"cds_length": 7239,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 8617,
"mane_select": "ENST00000695795.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.927dupA",
"hgvs_p": "p.Leu310fs",
"transcript": "ENST00000695795.1",
"protein_id": "ENSP00000512175.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 2412,
"cds_start": 928,
"cds_end": null,
"cds_length": 7239,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 8617,
"mane_select": "NM_001395426.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.729dupA",
"hgvs_p": "p.Leu244fs",
"transcript": "ENST00000369356.8",
"protein_id": "ENSP00000358363.4",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 2362,
"cds_start": 730,
"cds_end": null,
"cds_length": 7089,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 8307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.729dupA",
"hgvs_p": "p.Leu244fs",
"transcript": "ENST00000369354.7",
"protein_id": "ENSP00000358360.3",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 2346,
"cds_start": 730,
"cds_end": null,
"cds_length": 7041,
"cdna_start": 920,
"cdna_end": null,
"cdna_length": 8262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.927dupA",
"hgvs_p": "p.Leu310fs",
"transcript": "ENST00000618462.4",
"protein_id": "ENSP00000479409.1",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 2240,
"cds_start": 928,
"cds_end": null,
"cds_length": 6723,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 8150,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1218dupA",
"hgvs_p": "p.Leu407fs",
"transcript": "ENST00000313431.13",
"protein_id": "ENSP00000316434.9",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 1132,
"cds_start": 1219,
"cds_end": null,
"cds_length": 3399,
"cdna_start": 1876,
"cdna_end": null,
"cdna_length": 5676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1218dupA",
"hgvs_p": "p.Leu407fs",
"transcript": "ENST00000529945.2",
"protein_id": "ENSP00000433392.1",
"transcript_support_level": 1,
"aa_start": 407,
"aa_end": null,
"aa_length": 1116,
"cds_start": 1219,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 1659,
"cdna_end": null,
"cdna_length": 8824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.729dupA",
"hgvs_p": "p.Leu244fs",
"transcript": "ENST00000369351.7",
"protein_id": "ENSP00000358357.3",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 988,
"cds_start": 730,
"cds_end": null,
"cds_length": 2967,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 4922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.729dupA",
"hgvs_p": "p.Leu244fs",
"transcript": "ENST00000369349.7",
"protein_id": "ENSP00000358355.3",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 969,
"cds_start": 730,
"cds_end": null,
"cds_length": 2910,
"cdna_start": 875,
"cdna_end": null,
"cdna_length": 4677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1218dupA",
"hgvs_p": "p.Leu407fs",
"transcript": "NM_001395297.1",
"protein_id": "NP_001382226.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2525,
"cds_start": 1219,
"cds_end": null,
"cds_length": 7578,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 8912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1218dupA",
"hgvs_p": "p.Leu407fs",
"transcript": "NM_001350520.2",
"protein_id": "NP_001337449.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2508,
"cds_start": 1219,
"cds_end": null,
"cds_length": 7527,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 8965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1218dupA",
"hgvs_p": "p.Leu407fs",
"transcript": "ENST00000704840.1",
"protein_id": "ENSP00000516056.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2508,
"cds_start": 1219,
"cds_end": null,
"cds_length": 7527,
"cdna_start": 2047,
"cdna_end": null,
"cdna_length": 9377,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1140dupA",
"hgvs_p": "p.Leu381fs",
"transcript": "NM_001377392.2",
"protein_id": "NP_001364321.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 2483,
"cds_start": 1141,
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"cds_length": 7452,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 8554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1140dupA",
"hgvs_p": "p.Leu381fs",
"transcript": "ENST00000695794.1",
"protein_id": "ENSP00000512174.1",
"transcript_support_level": null,
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"cds_start": 1141,
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"cdna_start": 1212,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1140dupA",
"hgvs_p": "p.Leu381fs",
"transcript": "NM_001395298.1",
"protein_id": "NP_001382227.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 2482,
"cds_start": 1141,
"cds_end": null,
"cds_length": 7449,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 8551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1140dupA",
"hgvs_p": "p.Leu381fs",
"transcript": "ENST00000585156.5",
"protein_id": "ENSP00000462316.2",
"transcript_support_level": 5,
"aa_start": 381,
"aa_end": null,
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"cds_start": 1141,
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"cdna_start": 1161,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1218dupA",
"hgvs_p": "p.Leu407fs",
"transcript": "NM_001395299.1",
"protein_id": "NP_001382228.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2462,
"cds_start": 1219,
"cds_end": null,
"cds_length": 7389,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 8723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1140dupA",
"hgvs_p": "p.Leu381fs",
"transcript": "NM_001350521.4",
"protein_id": "NP_001337450.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 2460,
"cds_start": 1141,
"cds_end": null,
"cds_length": 7383,
"cdna_start": 1212,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1029dupA",
"hgvs_p": "p.Leu344fs",
"transcript": "NM_001395300.1",
"protein_id": "NP_001382229.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1140dupA",
"hgvs_p": "p.Leu381fs",
"transcript": "ENST00000524974.5",
"protein_id": "ENSP00000480806.1",
"transcript_support_level": 5,
"aa_start": 381,
"aa_end": null,
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"cds_start": 1141,
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"cdna_start": 1180,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1218dupA",
"hgvs_p": "p.Leu407fs",
"transcript": "NM_001395301.1",
"protein_id": "NP_001382230.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 2428,
"cds_start": 1219,
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"cds_length": 7287,
"cdna_start": 1626,
"cdna_end": null,
"cdna_length": 8725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDE4DIP",
"gene_hgnc_id": 15580,
"hgvs_c": "c.1029dupA",
"hgvs_p": "p.Leu344fs",
"transcript": "NM_001395302.1",
"protein_id": "NP_001382231.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 2382,
"cds_start": 1030,
"cds_end": null,
"cds_length": 7149,
"cdna_start": 1101,
"cdna_end": null,
"cdna_length": 8147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "T?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
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}