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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: 14-65561728-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=65561728&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 65561728,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001371536.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"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": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Gln55His",
"transcript": "NM_001371533.1",
"protein_id": "NP_001358462.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 575,
"cds_start": 165,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000673929.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371533.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"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": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Gln55His",
"transcript": "ENST00000673929.1",
"protein_id": "ENSP00000501213.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 575,
"cds_start": 165,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001371533.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673929.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Gln55His",
"transcript": "ENST00000360689.9",
"protein_id": "ENSP00000353910.5",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 575,
"cds_start": 165,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360689.9"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Gln55His",
"transcript": "ENST00000394586.6",
"protein_id": "ENSP00000378087.2",
"transcript_support_level": 1,
"aa_start": 55,
"aa_end": null,
"aa_length": 575,
"cds_start": 165,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394586.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.-286-54250A>C",
"hgvs_p": null,
"transcript": "ENST00000358307.6",
"protein_id": "ENSP00000351057.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": null,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358307.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "n.165A>C",
"hgvs_p": null,
"transcript": "ENST00000342677.10",
"protein_id": "ENSP00000345865.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000342677.10"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Gln55His",
"transcript": "NM_001371536.1",
"protein_id": "NP_001358465.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 609,
"cds_start": 165,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371536.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Gln55His",
"transcript": "NM_001371534.1",
"protein_id": "NP_001358463.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 575,
"cds_start": 165,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371534.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Gln55His",
"transcript": "NM_178155.3",
"protein_id": "NP_835368.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 575,
"cds_start": 165,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178155.3"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Gln55His",
"transcript": "NM_178156.2",
"protein_id": "NP_835369.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 575,
"cds_start": 165,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_178156.2"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Gln55His",
"transcript": "ENST00000859039.1",
"protein_id": "ENSP00000529098.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 575,
"cds_start": 165,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859039.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Gln55His",
"transcript": "ENST00000859040.1",
"protein_id": "ENSP00000529099.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 575,
"cds_start": 165,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859040.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Gln55His",
"transcript": "ENST00000859041.1",
"protein_id": "ENSP00000529100.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 575,
"cds_start": 165,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859041.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Gln55His",
"transcript": "ENST00000859042.1",
"protein_id": "ENSP00000529101.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 575,
"cds_start": 165,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859042.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Gln55His",
"transcript": "ENST00000859045.1",
"protein_id": "ENSP00000529104.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 575,
"cds_start": 165,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859045.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Gln55His",
"transcript": "ENST00000859046.1",
"protein_id": "ENSP00000529105.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 575,
"cds_start": 165,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859046.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Gln55His",
"transcript": "ENST00000859047.1",
"protein_id": "ENSP00000529106.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 575,
"cds_start": 165,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859047.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Gln55His",
"transcript": "ENST00000927586.1",
"protein_id": "ENSP00000597645.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 575,
"cds_start": 165,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927586.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Gln55His",
"transcript": "ENST00000958355.1",
"protein_id": "ENSP00000628414.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 575,
"cds_start": 165,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958355.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Gln55His",
"transcript": "ENST00000958356.1",
"protein_id": "ENSP00000628415.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 575,
"cds_start": 165,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958356.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Gln55His",
"transcript": "ENST00000958358.1",
"protein_id": "ENSP00000628417.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 575,
"cds_start": 165,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958358.1"
},
{
"aa_ref": "Q",
"aa_alt": "H",
"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": "FUT8",
"gene_hgnc_id": 4019,
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Gln55His",
"transcript": "ENST00000958359.1",
"protein_id": "ENSP00000628418.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 575,
"cds_start": 165,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958359.1"
},
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001371536.1",
"gene_symbol": "FUT8",
"hgnc_id": 4019,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.165A>C",
"hgvs_p": "p.Gln55His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}