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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: 1-155240651-G-GC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155240651&ref=G&alt=GC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155240651,
"ref": "G",
"alt": "GC",
"effect": "frameshift_variant",
"transcript": "NM_000157.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.93_94insG",
"hgvs_p": "p.Gln32fs",
"transcript": "NM_000157.4",
"protein_id": "NP_000148.2",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 536,
"cds_start": 93,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 2291,
"mane_select": "ENST00000368373.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000157.4"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.93_94insG",
"hgvs_p": "p.Gln32fs",
"transcript": "ENST00000368373.8",
"protein_id": "ENSP00000357357.3",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 536,
"cds_start": 93,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 2291,
"mane_select": "NM_000157.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368373.8"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.93_94insG",
"hgvs_p": "p.Gln32fs",
"transcript": "ENST00000327247.9",
"protein_id": "ENSP00000314508.5",
"transcript_support_level": 1,
"aa_start": 31,
"aa_end": null,
"aa_length": 536,
"cds_start": 93,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 326,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327247.9"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.93_94insG",
"hgvs_p": "p.Gln32fs",
"transcript": "ENST00000948997.1",
"protein_id": "ENSP00000619056.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 558,
"cds_start": 93,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948997.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.93_94insG",
"hgvs_p": "p.Gln32fs",
"transcript": "ENST00000852365.1",
"protein_id": "ENSP00000522424.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 543,
"cds_start": 93,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 321,
"cdna_end": null,
"cdna_length": 2402,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852365.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.93_94insG",
"hgvs_p": "p.Gln32fs",
"transcript": "ENST00000852367.1",
"protein_id": "ENSP00000522426.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 543,
"cds_start": 93,
"cds_end": null,
"cds_length": 1632,
"cdna_start": 207,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852367.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.93_94insG",
"hgvs_p": "p.Gln32fs",
"transcript": "NM_001005741.3",
"protein_id": "NP_001005741.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 536,
"cds_start": 93,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005741.3"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.93_94insG",
"hgvs_p": "p.Gln32fs",
"transcript": "NM_001005742.3",
"protein_id": "NP_001005742.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 536,
"cds_start": 93,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 2325,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005742.3"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.93_94insG",
"hgvs_p": "p.Gln32fs",
"transcript": "ENST00000852359.1",
"protein_id": "ENSP00000522418.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 536,
"cds_start": 93,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 2407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852359.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.93_94insG",
"hgvs_p": "p.Gln32fs",
"transcript": "ENST00000852360.1",
"protein_id": "ENSP00000522419.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 536,
"cds_start": 93,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 336,
"cdna_end": null,
"cdna_length": 2402,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852360.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.93_94insG",
"hgvs_p": "p.Gln32fs",
"transcript": "ENST00000852361.1",
"protein_id": "ENSP00000522420.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 536,
"cds_start": 93,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852361.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.93_94insG",
"hgvs_p": "p.Gln32fs",
"transcript": "ENST00000852362.1",
"protein_id": "ENSP00000522421.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 536,
"cds_start": 93,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 2518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852362.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.93_94insG",
"hgvs_p": "p.Gln32fs",
"transcript": "ENST00000852363.1",
"protein_id": "ENSP00000522422.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 536,
"cds_start": 93,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 2511,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852363.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.93_94insG",
"hgvs_p": "p.Gln32fs",
"transcript": "ENST00000852366.1",
"protein_id": "ENSP00000522425.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 536,
"cds_start": 93,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 427,
"cdna_end": null,
"cdna_length": 2488,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852366.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.93_94insG",
"hgvs_p": "p.Gln32fs",
"transcript": "ENST00000948996.1",
"protein_id": "ENSP00000619055.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 536,
"cds_start": 93,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 2507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948996.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.93_94insG",
"hgvs_p": "p.Gln32fs",
"transcript": "ENST00000948998.1",
"protein_id": "ENSP00000619057.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 535,
"cds_start": 93,
"cds_end": null,
"cds_length": 1608,
"cdna_start": 244,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948998.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.93_94insG",
"hgvs_p": "p.Gln32fs",
"transcript": "NM_001171812.2",
"protein_id": "NP_001165283.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 487,
"cds_start": 93,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 2144,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171812.2"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.93_94insG",
"hgvs_p": "p.Gln32fs",
"transcript": "ENST00000427500.7",
"protein_id": "ENSP00000402577.2",
"transcript_support_level": 2,
"aa_start": 31,
"aa_end": null,
"aa_length": 487,
"cds_start": 93,
"cds_end": null,
"cds_length": 1464,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 2063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427500.7"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.93_94insG",
"hgvs_p": "p.Gln32fs",
"transcript": "ENST00000852364.1",
"protein_id": "ENSP00000522423.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 423,
"cds_start": 93,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 2461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852364.1"
},
{
"aa_ref": "L",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.93_94insG",
"hgvs_p": "p.Gln32fs",
"transcript": "ENST00000852368.1",
"protein_id": "ENSP00000522427.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 423,
"cds_start": 93,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 1484,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852368.1"
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.-146-575_-146-574insG",
"hgvs_p": null,
"transcript": "NM_001171811.2",
"protein_id": "NP_001165282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 449,
"cds_start": null,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171811.2"
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GBA1",
"gene_hgnc_id": 4177,
"hgvs_c": "c.-146-575_-146-574insG",
"hgvs_p": null,
"transcript": "ENST00000428024.3",
"protein_id": "ENSP00000397986.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 449,
"cds_start": null,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
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}
],
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}