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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: 11-67405414-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=67405414&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 67405414,
"ref": "C",
"alt": "T",
"effect": "5_prime_UTR_premature_start_codon_gain_variant",
"transcript": "NM_001369494.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"transcript": "NM_001369496.1",
"protein_id": "NP_001356425.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 446,
"cds_start": 268,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000542590.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369496.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"transcript": "ENST00000542590.2",
"protein_id": "ENSP00000443654.1",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 446,
"cds_start": 268,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001369496.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542590.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.-32C>T",
"hgvs_p": null,
"transcript": "NM_001369494.1",
"protein_id": "NP_001356423.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": null,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369494.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.-32C>T",
"hgvs_p": null,
"transcript": "NM_001369495.1",
"protein_id": "NP_001356424.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": null,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369495.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.-32C>T",
"hgvs_p": null,
"transcript": "XM_047426911.1",
"protein_id": "XP_047282867.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": null,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426911.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"transcript": "NM_001369498.1",
"protein_id": "NP_001356427.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 454,
"cds_start": 268,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369498.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"transcript": "ENST00000946012.1",
"protein_id": "ENSP00000616071.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 454,
"cds_start": 268,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946012.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"transcript": "NM_001369497.1",
"protein_id": "NP_001356426.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 446,
"cds_start": 268,
"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": "NM_001369497.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"transcript": "NM_198517.4",
"protein_id": "NP_940919.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 446,
"cds_start": 268,
"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": "NM_198517.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"transcript": "ENST00000868931.1",
"protein_id": "ENSP00000538990.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 446,
"cds_start": 268,
"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": "ENST00000868931.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"transcript": "ENST00000868932.1",
"protein_id": "ENSP00000538991.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 446,
"cds_start": 268,
"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": "ENST00000868932.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"transcript": "ENST00000868933.1",
"protein_id": "ENSP00000538992.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 446,
"cds_start": 268,
"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": "ENST00000868933.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"transcript": "ENST00000868934.1",
"protein_id": "ENSP00000538993.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 446,
"cds_start": 268,
"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": "ENST00000868934.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"transcript": "ENST00000946007.1",
"protein_id": "ENSP00000616066.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 446,
"cds_start": 268,
"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": "ENST00000946007.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"transcript": "ENST00000946009.1",
"protein_id": "ENSP00000616068.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 446,
"cds_start": 268,
"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": "ENST00000946009.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"transcript": "ENST00000946008.1",
"protein_id": "ENSP00000616067.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 445,
"cds_start": 268,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946008.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"transcript": "ENST00000868935.1",
"protein_id": "ENSP00000538994.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 438,
"cds_start": 268,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868935.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"transcript": "ENST00000946010.1",
"protein_id": "ENSP00000616069.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 424,
"cds_start": 268,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946010.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"transcript": "ENST00000946011.1",
"protein_id": "ENSP00000616070.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 424,
"cds_start": 268,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946011.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"transcript": "NM_001256508.1",
"protein_id": "NP_001243437.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 310,
"cds_start": 268,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256508.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"transcript": "ENST00000312390.9",
"protein_id": "ENSP00000310193.6",
"transcript_support_level": 5,
"aa_start": 90,
"aa_end": null,
"aa_length": 310,
"cds_start": 268,
"cds_end": null,
"cds_length": 933,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312390.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TBC1D10C",
"gene_hgnc_id": 24702,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Trp",
"transcript": "ENST00000526387.5",
"protein_id": "ENSP00000435543.1",
"transcript_support_level": 2,
"aa_start": 90,
"aa_end": null,
"aa_length": 310,
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"verdict": "Uncertain_significance",
"transcript": "NM_001369494.1",
"gene_symbol": "TBC1D10C",
"hgnc_id": 24702,
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-32C>T",
"hgvs_p": null
},
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000542876.1",
"gene_symbol": "PPP1CA",
"hgnc_id": 9281,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "n.396-4215G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}