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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: 5-142011977-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=142011977&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 142011977,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005471.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPDA1",
"gene_hgnc_id": 4417,
"hgvs_c": "c.59T>G",
"hgvs_p": "p.Ile20Ser",
"transcript": "NM_005471.5",
"protein_id": "NP_005462.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 289,
"cds_start": 59,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311337.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005471.5"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPDA1",
"gene_hgnc_id": 4417,
"hgvs_c": "c.59T>G",
"hgvs_p": "p.Ile20Ser",
"transcript": "ENST00000311337.11",
"protein_id": "ENSP00000311876.6",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 289,
"cds_start": 59,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005471.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311337.11"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPDA1",
"gene_hgnc_id": 4417,
"hgvs_c": "c.59T>G",
"hgvs_p": "p.Ile20Ser",
"transcript": "ENST00000503794.5",
"protein_id": "ENSP00000423485.1",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 289,
"cds_start": 59,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503794.5"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPDA1",
"gene_hgnc_id": 4417,
"hgvs_c": "c.59T>G",
"hgvs_p": "p.Ile20Ser",
"transcript": "ENST00000508177.5",
"protein_id": "ENSP00000423674.1",
"transcript_support_level": 1,
"aa_start": 20,
"aa_end": null,
"aa_length": 289,
"cds_start": 59,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508177.5"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPDA1",
"gene_hgnc_id": 4417,
"hgvs_c": "c.59T>G",
"hgvs_p": "p.Ile20Ser",
"transcript": "ENST00000505689.5",
"protein_id": "ENSP00000421524.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 289,
"cds_start": 59,
"cds_end": null,
"cds_length": 872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505689.5"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPDA1",
"gene_hgnc_id": 4417,
"hgvs_c": "c.59T>G",
"hgvs_p": "p.Ile20Ser",
"transcript": "ENST00000500692.6",
"protein_id": "ENSP00000424275.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 289,
"cds_start": 59,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000500692.6"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPDA1",
"gene_hgnc_id": 4417,
"hgvs_c": "c.59T>G",
"hgvs_p": "p.Ile20Ser",
"transcript": "ENST00000862717.1",
"protein_id": "ENSP00000532776.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 289,
"cds_start": 59,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862717.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPDA1",
"gene_hgnc_id": 4417,
"hgvs_c": "c.59T>G",
"hgvs_p": "p.Ile20Ser",
"transcript": "ENST00000862721.1",
"protein_id": "ENSP00000532780.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 289,
"cds_start": 59,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862721.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPDA1",
"gene_hgnc_id": 4417,
"hgvs_c": "c.59T>G",
"hgvs_p": "p.Ile20Ser",
"transcript": "ENST00000862723.1",
"protein_id": "ENSP00000532782.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 289,
"cds_start": 59,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862723.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPDA1",
"gene_hgnc_id": 4417,
"hgvs_c": "c.59T>G",
"hgvs_p": "p.Ile20Ser",
"transcript": "ENST00000862724.1",
"protein_id": "ENSP00000532783.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 289,
"cds_start": 59,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862724.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPDA1",
"gene_hgnc_id": 4417,
"hgvs_c": "c.59T>G",
"hgvs_p": "p.Ile20Ser",
"transcript": "ENST00000927689.1",
"protein_id": "ENSP00000597748.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 289,
"cds_start": 59,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927689.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPDA1",
"gene_hgnc_id": 4417,
"hgvs_c": "c.59T>G",
"hgvs_p": "p.Ile20Ser",
"transcript": "ENST00000927691.1",
"protein_id": "ENSP00000597750.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 289,
"cds_start": 59,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927691.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPDA1",
"gene_hgnc_id": 4417,
"hgvs_c": "c.59T>G",
"hgvs_p": "p.Ile20Ser",
"transcript": "ENST00000927692.1",
"protein_id": "ENSP00000597751.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 289,
"cds_start": 59,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927692.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPDA1",
"gene_hgnc_id": 4417,
"hgvs_c": "c.59T>G",
"hgvs_p": "p.Ile20Ser",
"transcript": "ENST00000927694.1",
"protein_id": "ENSP00000597753.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 289,
"cds_start": 59,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927694.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPDA1",
"gene_hgnc_id": 4417,
"hgvs_c": "c.59T>G",
"hgvs_p": "p.Ile20Ser",
"transcript": "ENST00000862714.1",
"protein_id": "ENSP00000532773.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 281,
"cds_start": 59,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862714.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPDA1",
"gene_hgnc_id": 4417,
"hgvs_c": "c.59T>G",
"hgvs_p": "p.Ile20Ser",
"transcript": "ENST00000862719.1",
"protein_id": "ENSP00000532778.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 281,
"cds_start": 59,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862719.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPDA1",
"gene_hgnc_id": 4417,
"hgvs_c": "c.59T>G",
"hgvs_p": "p.Ile20Ser",
"transcript": "ENST00000927693.1",
"protein_id": "ENSP00000597752.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 281,
"cds_start": 59,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927693.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPDA1",
"gene_hgnc_id": 4417,
"hgvs_c": "c.59T>G",
"hgvs_p": "p.Ile20Ser",
"transcript": "ENST00000513454.5",
"protein_id": "ENSP00000423494.1",
"transcript_support_level": 5,
"aa_start": 20,
"aa_end": null,
"aa_length": 274,
"cds_start": 59,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513454.5"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPDA1",
"gene_hgnc_id": 4417,
"hgvs_c": "c.59T>G",
"hgvs_p": "p.Ile20Ser",
"transcript": "ENST00000862716.1",
"protein_id": "ENSP00000532775.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 273,
"cds_start": 59,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862716.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPDA1",
"gene_hgnc_id": 4417,
"hgvs_c": "c.59T>G",
"hgvs_p": "p.Ile20Ser",
"transcript": "ENST00000862725.1",
"protein_id": "ENSP00000532784.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 273,
"cds_start": 59,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862725.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPDA1",
"gene_hgnc_id": 4417,
"hgvs_c": "c.59T>G",
"hgvs_p": "p.Ile20Ser",
"transcript": "ENST00000862726.1",
"protein_id": "ENSP00000532785.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 271,
"cds_start": 59,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862726.1"
},
{
"aa_ref": "I",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNPDA1",
"gene_hgnc_id": 4417,
"hgvs_c": "c.59T>G",
"hgvs_p": "p.Ile20Ser",
"transcript": "ENST00000927690.1",
"protein_id": "ENSP00000597749.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 271,
"cds_start": 59,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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"phenotype_combined": "not specified",
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}
],
"message": null
}