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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: 1-236537507-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=236537507&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 236537507,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006499.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.56T>C",
"hgvs_p": "p.Phe19Ser",
"transcript": "NM_201544.4",
"protein_id": "NP_963838.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 56,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000366584.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201544.4"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.56T>C",
"hgvs_p": "p.Phe19Ser",
"transcript": "ENST00000366584.9",
"protein_id": "ENSP00000355543.4",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 56,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_201544.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000366584.9"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.56T>C",
"hgvs_p": "p.Phe19Ser",
"transcript": "ENST00000450372.6",
"protein_id": "ENSP00000408657.2",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 359,
"cds_start": 56,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450372.6"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.56T>C",
"hgvs_p": "p.Phe19Ser",
"transcript": "ENST00000341872.10",
"protein_id": "ENSP00000342139.6",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 317,
"cds_start": 56,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341872.10"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.56T>C",
"hgvs_p": "p.Phe19Ser",
"transcript": "ENST00000525042.1",
"protein_id": "ENSP00000431884.1",
"transcript_support_level": 1,
"aa_start": 19,
"aa_end": null,
"aa_length": 300,
"cds_start": 56,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525042.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.155T>C",
"hgvs_p": "p.Phe52Ser",
"transcript": "ENST00000891073.1",
"protein_id": "ENSP00000561132.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 392,
"cds_start": 155,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891073.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.56T>C",
"hgvs_p": "p.Phe19Ser",
"transcript": "NM_006499.5",
"protein_id": "NP_006490.3",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 359,
"cds_start": 56,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006499.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.56T>C",
"hgvs_p": "p.Phe19Ser",
"transcript": "NM_201545.2",
"protein_id": "NP_963839.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 359,
"cds_start": 56,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201545.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.56T>C",
"hgvs_p": "p.Phe19Ser",
"transcript": "ENST00000352231.6",
"protein_id": "ENSP00000309576.2",
"transcript_support_level": 2,
"aa_start": 19,
"aa_end": null,
"aa_length": 359,
"cds_start": 56,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352231.6"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.56T>C",
"hgvs_p": "p.Phe19Ser",
"transcript": "ENST00000526589.5",
"protein_id": "ENSP00000435460.1",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 359,
"cds_start": 56,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526589.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.56T>C",
"hgvs_p": "p.Phe19Ser",
"transcript": "ENST00000527974.5",
"protein_id": "ENSP00000431398.1",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 359,
"cds_start": 56,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527974.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.56T>C",
"hgvs_p": "p.Phe19Ser",
"transcript": "ENST00000891071.1",
"protein_id": "ENSP00000561130.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 359,
"cds_start": 56,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891071.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.56T>C",
"hgvs_p": "p.Phe19Ser",
"transcript": "ENST00000891072.1",
"protein_id": "ENSP00000561131.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 359,
"cds_start": 56,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891072.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.56T>C",
"hgvs_p": "p.Phe19Ser",
"transcript": "ENST00000891077.1",
"protein_id": "ENSP00000561136.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 359,
"cds_start": 56,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891077.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.56T>C",
"hgvs_p": "p.Phe19Ser",
"transcript": "ENST00000891078.1",
"protein_id": "ENSP00000561137.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 359,
"cds_start": 56,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891078.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.56T>C",
"hgvs_p": "p.Phe19Ser",
"transcript": "ENST00000891081.1",
"protein_id": "ENSP00000561140.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 359,
"cds_start": 56,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891081.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.56T>C",
"hgvs_p": "p.Phe19Ser",
"transcript": "ENST00000891082.1",
"protein_id": "ENSP00000561141.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 359,
"cds_start": 56,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891082.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.56T>C",
"hgvs_p": "p.Phe19Ser",
"transcript": "ENST00000891083.1",
"protein_id": "ENSP00000561142.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 359,
"cds_start": 56,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891083.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.56T>C",
"hgvs_p": "p.Phe19Ser",
"transcript": "ENST00000891084.1",
"protein_id": "ENSP00000561143.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 359,
"cds_start": 56,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891084.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.56T>C",
"hgvs_p": "p.Phe19Ser",
"transcript": "ENST00000918760.1",
"protein_id": "ENSP00000588819.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 359,
"cds_start": 56,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918760.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.56T>C",
"hgvs_p": "p.Phe19Ser",
"transcript": "ENST00000968021.1",
"protein_id": "ENSP00000638080.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 359,
"cds_start": 56,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968021.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LGALS8",
"gene_hgnc_id": 6569,
"hgvs_c": "c.56T>C",
"hgvs_p": "p.Phe19Ser",
"transcript": "ENST00000968022.1",
"protein_id": "ENSP00000638081.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 359,
"cds_start": 56,
"cds_end": null,
"cds_length": 1080,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968022.1"
},
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{
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"verdict": "Likely_pathogenic",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}