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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: 4-122238124-GA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=122238124&ref=GA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 122238124,
"ref": "GA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_001384125.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3611delA",
"hgvs_p": "p.Asn1204fs",
"transcript": "NM_001384125.1",
"protein_id": "NP_001371054.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 5093,
"cds_start": 3611,
"cds_end": null,
"cds_length": 15282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000679879.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384125.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3611delA",
"hgvs_p": "p.Asn1204fs",
"transcript": "ENST00000679879.1",
"protein_id": "ENSP00000505357.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 5093,
"cds_start": 3611,
"cds_end": null,
"cds_length": 15282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001384125.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679879.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 85,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3611delA",
"hgvs_p": "p.Asn1204fs",
"transcript": "ENST00000388738.8",
"protein_id": "ENSP00000373390.4",
"transcript_support_level": 1,
"aa_start": 1204,
"aa_end": null,
"aa_length": 4890,
"cds_start": 3611,
"cds_end": null,
"cds_length": 14673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000388738.8"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 84,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3611delA",
"hgvs_p": "p.Asn1204fs",
"transcript": "NM_015312.4",
"protein_id": "NP_056127.2",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 5005,
"cds_start": 3611,
"cds_end": null,
"cds_length": 15018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015312.4"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 86,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3611delA",
"hgvs_p": "p.Asn1204fs",
"transcript": "ENST00000264501.8",
"protein_id": "ENSP00000264501.4",
"transcript_support_level": 5,
"aa_start": 1204,
"aa_end": null,
"aa_length": 5005,
"cds_start": 3611,
"cds_end": null,
"cds_length": 15018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264501.8"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3611delA",
"hgvs_p": "p.Asn1204fs",
"transcript": "XM_011532320.4",
"protein_id": "XP_011530622.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 5093,
"cds_start": 3611,
"cds_end": null,
"cds_length": 15282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532320.4"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3611delA",
"hgvs_p": "p.Asn1204fs",
"transcript": "XM_047416251.1",
"protein_id": "XP_047272207.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 5093,
"cds_start": 3611,
"cds_end": null,
"cds_length": 15282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416251.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3611delA",
"hgvs_p": "p.Asn1204fs",
"transcript": "XM_047416252.1",
"protein_id": "XP_047272208.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 5093,
"cds_start": 3611,
"cds_end": null,
"cds_length": 15282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416252.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3611delA",
"hgvs_p": "p.Asn1204fs",
"transcript": "XM_047416253.1",
"protein_id": "XP_047272209.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 5093,
"cds_start": 3611,
"cds_end": null,
"cds_length": 15282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416253.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3611delA",
"hgvs_p": "p.Asn1204fs",
"transcript": "XM_047416254.1",
"protein_id": "XP_047272210.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 5093,
"cds_start": 3611,
"cds_end": null,
"cds_length": 15282,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416254.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3608delA",
"hgvs_p": "p.Asn1203fs",
"transcript": "XM_011532322.2",
"protein_id": "XP_011530624.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 5092,
"cds_start": 3608,
"cds_end": null,
"cds_length": 15279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532322.2"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3608delA",
"hgvs_p": "p.Asn1203fs",
"transcript": "XM_047416255.1",
"protein_id": "XP_047272211.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 5092,
"cds_start": 3608,
"cds_end": null,
"cds_length": 15279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416255.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3608delA",
"hgvs_p": "p.Asn1203fs",
"transcript": "XM_047416256.1",
"protein_id": "XP_047272212.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 5092,
"cds_start": 3608,
"cds_end": null,
"cds_length": 15279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416256.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3608delA",
"hgvs_p": "p.Asn1203fs",
"transcript": "XM_047416257.1",
"protein_id": "XP_047272213.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 5092,
"cds_start": 3608,
"cds_end": null,
"cds_length": 15279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416257.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3608delA",
"hgvs_p": "p.Asn1203fs",
"transcript": "XM_047416258.1",
"protein_id": "XP_047272214.1",
"transcript_support_level": null,
"aa_start": 1203,
"aa_end": null,
"aa_length": 5092,
"cds_start": 3608,
"cds_end": null,
"cds_length": 15279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416258.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3611delA",
"hgvs_p": "p.Asn1204fs",
"transcript": "XM_011532323.2",
"protein_id": "XP_011530625.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 5076,
"cds_start": 3611,
"cds_end": null,
"cds_length": 15231,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532323.2"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3611delA",
"hgvs_p": "p.Asn1204fs",
"transcript": "XM_011532324.2",
"protein_id": "XP_011530626.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 5072,
"cds_start": 3611,
"cds_end": null,
"cds_length": 15219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532324.2"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3611delA",
"hgvs_p": "p.Asn1204fs",
"transcript": "XM_011532325.2",
"protein_id": "XP_011530627.1",
"transcript_support_level": null,
"aa_start": 1204,
"aa_end": null,
"aa_length": 5058,
"cds_start": 3611,
"cds_end": null,
"cds_length": 15177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532325.2"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3482delA",
"hgvs_p": "p.Asn1161fs",
"transcript": "XM_011532326.2",
"protein_id": "XP_011530628.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 5050,
"cds_start": 3482,
"cds_end": null,
"cds_length": 15153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532326.2"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3482delA",
"hgvs_p": "p.Asn1161fs",
"transcript": "XM_047416259.1",
"protein_id": "XP_047272215.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 5050,
"cds_start": 3482,
"cds_end": null,
"cds_length": 15153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416259.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 88,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3482delA",
"hgvs_p": "p.Asn1161fs",
"transcript": "XM_047416260.1",
"protein_id": "XP_047272216.1",
"transcript_support_level": null,
"aa_start": 1161,
"aa_end": null,
"aa_length": 5050,
"cds_start": 3482,
"cds_end": null,
"cds_length": 15153,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416260.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 87,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLTP1",
"gene_hgnc_id": 26953,
"hgvs_c": "c.3479delA",
"hgvs_p": "p.Asn1160fs",
"transcript": "XM_047416261.1",
"protein_id": "XP_047272217.1",
"transcript_support_level": null,
"aa_start": 1160,
"aa_end": null,
"aa_length": 5049,
"cds_start": 3479,
"cds_end": null,
"cds_length": 15150,
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"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Alkuraya-Kucinskas syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}