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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: 10-89214840-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=89214840&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 89214840,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001440836.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1188G>T",
"hgvs_p": "p.Arg396Ser",
"transcript": "NM_000235.4",
"protein_id": "NP_000226.2",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 399,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000336233.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000235.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1188G>T",
"hgvs_p": "p.Arg396Ser",
"transcript": "ENST00000336233.10",
"protein_id": "ENSP00000337354.5",
"transcript_support_level": 1,
"aa_start": 396,
"aa_end": null,
"aa_length": 399,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000235.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000336233.10"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1320G>T",
"hgvs_p": "p.Arg440Ser",
"transcript": "NM_001440836.1",
"protein_id": "NP_001427765.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 443,
"cds_start": 1320,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440836.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1209G>T",
"hgvs_p": "p.Arg403Ser",
"transcript": "NM_001440837.1",
"protein_id": "NP_001427766.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 406,
"cds_start": 1209,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440837.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1209G>T",
"hgvs_p": "p.Arg403Ser",
"transcript": "ENST00000868683.1",
"protein_id": "ENSP00000538742.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 406,
"cds_start": 1209,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868683.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1209G>T",
"hgvs_p": "p.Arg403Ser",
"transcript": "ENST00000938134.1",
"protein_id": "ENSP00000608193.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 406,
"cds_start": 1209,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938134.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1203G>T",
"hgvs_p": "p.Arg401Ser",
"transcript": "NM_001440838.1",
"protein_id": "NP_001427767.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 404,
"cds_start": 1203,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440838.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1203G>T",
"hgvs_p": "p.Arg401Ser",
"transcript": "ENST00000938131.1",
"protein_id": "ENSP00000608190.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 404,
"cds_start": 1203,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938131.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1188G>T",
"hgvs_p": "p.Arg396Ser",
"transcript": "NM_001127605.3",
"protein_id": "NP_001121077.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 399,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127605.3"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1188G>T",
"hgvs_p": "p.Arg396Ser",
"transcript": "NM_001440818.1",
"protein_id": "NP_001427747.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 399,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440818.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1188G>T",
"hgvs_p": "p.Arg396Ser",
"transcript": "NM_001440819.1",
"protein_id": "NP_001427748.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 399,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440819.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1188G>T",
"hgvs_p": "p.Arg396Ser",
"transcript": "NM_001440820.1",
"protein_id": "NP_001427749.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 399,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440820.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1188G>T",
"hgvs_p": "p.Arg396Ser",
"transcript": "NM_001440821.1",
"protein_id": "NP_001427750.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 399,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440821.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1188G>T",
"hgvs_p": "p.Arg396Ser",
"transcript": "NM_001440822.1",
"protein_id": "NP_001427751.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 399,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440822.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1188G>T",
"hgvs_p": "p.Arg396Ser",
"transcript": "NM_001440823.1",
"protein_id": "NP_001427752.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 399,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440823.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1188G>T",
"hgvs_p": "p.Arg396Ser",
"transcript": "NM_001440824.1",
"protein_id": "NP_001427753.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 399,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440824.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1188G>T",
"hgvs_p": "p.Arg396Ser",
"transcript": "NM_001440825.1",
"protein_id": "NP_001427754.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 399,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440825.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1188G>T",
"hgvs_p": "p.Arg396Ser",
"transcript": "NM_001440826.1",
"protein_id": "NP_001427755.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 399,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440826.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1188G>T",
"hgvs_p": "p.Arg396Ser",
"transcript": "NM_001440827.1",
"protein_id": "NP_001427756.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 399,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440827.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1188G>T",
"hgvs_p": "p.Arg396Ser",
"transcript": "NM_001440828.1",
"protein_id": "NP_001427757.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 399,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440828.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1188G>T",
"hgvs_p": "p.Arg396Ser",
"transcript": "NM_001440829.1",
"protein_id": "NP_001427758.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 399,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440829.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LIPA",
"gene_hgnc_id": 6617,
"hgvs_c": "c.1188G>T",
"hgvs_p": "p.Arg396Ser",
"transcript": "NM_001440830.1",
"protein_id": "NP_001427759.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 399,
"cds_start": 1188,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440830.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
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}