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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: 8-144511452-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144511452&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144511452,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004260.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3606G>C",
"hgvs_p": "p.Glu1202Asp",
"transcript": "NM_004260.4",
"protein_id": "NP_004251.4",
"transcript_support_level": null,
"aa_start": 1202,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3606,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 3655,
"cdna_end": null,
"cdna_length": 3819,
"mane_select": "ENST00000617875.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3606G>C",
"hgvs_p": "p.Glu1202Asp",
"transcript": "ENST00000617875.6",
"protein_id": "ENSP00000482313.2",
"transcript_support_level": 1,
"aa_start": 1202,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3606,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 3655,
"cdna_end": null,
"cdna_length": 3819,
"mane_select": "NM_004260.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2535G>C",
"hgvs_p": "p.Glu845Asp",
"transcript": "ENST00000621189.4",
"protein_id": "ENSP00000483145.1",
"transcript_support_level": 1,
"aa_start": 845,
"aa_end": null,
"aa_length": 851,
"cds_start": 2535,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3732,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3681G>C",
"hgvs_p": "p.Glu1227Asp",
"transcript": "NM_001413019.1",
"protein_id": "NP_001399948.1",
"transcript_support_level": null,
"aa_start": 1227,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3681,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 3730,
"cdna_end": null,
"cdna_length": 3894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3615G>C",
"hgvs_p": "p.Glu1205Asp",
"transcript": "NM_001413036.1",
"protein_id": "NP_001399965.1",
"transcript_support_level": null,
"aa_start": 1205,
"aa_end": null,
"aa_length": 1211,
"cds_start": 3615,
"cds_end": null,
"cds_length": 3636,
"cdna_start": 3664,
"cdna_end": null,
"cdna_length": 3828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3576G>C",
"hgvs_p": "p.Glu1192Asp",
"transcript": "NM_001413039.1",
"protein_id": "NP_001399968.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1198,
"cds_start": 3576,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 3625,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3510G>C",
"hgvs_p": "p.Glu1170Asp",
"transcript": "NM_001413020.1",
"protein_id": "NP_001399949.1",
"transcript_support_level": null,
"aa_start": 1170,
"aa_end": null,
"aa_length": 1176,
"cds_start": 3510,
"cds_end": null,
"cds_length": 3531,
"cdna_start": 3559,
"cdna_end": null,
"cdna_length": 3723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3477G>C",
"hgvs_p": "p.Glu1159Asp",
"transcript": "NM_001413025.1",
"protein_id": "NP_001399954.1",
"transcript_support_level": null,
"aa_start": 1159,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3477,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3526,
"cdna_end": null,
"cdna_length": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3474G>C",
"hgvs_p": "p.Glu1158Asp",
"transcript": "NM_001413033.1",
"protein_id": "NP_001399962.1",
"transcript_support_level": null,
"aa_start": 1158,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3474,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3523,
"cdna_end": null,
"cdna_length": 3687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3408G>C",
"hgvs_p": "p.Glu1136Asp",
"transcript": "NM_001413018.1",
"protein_id": "NP_001399947.1",
"transcript_support_level": null,
"aa_start": 1136,
"aa_end": null,
"aa_length": 1142,
"cds_start": 3408,
"cds_end": null,
"cds_length": 3429,
"cdna_start": 3457,
"cdna_end": null,
"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3312G>C",
"hgvs_p": "p.Glu1104Asp",
"transcript": "NM_001413017.1",
"protein_id": "NP_001399946.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1110,
"cds_start": 3312,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 3361,
"cdna_end": null,
"cdna_length": 3525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3255G>C",
"hgvs_p": "p.Glu1085Asp",
"transcript": "NM_001413029.1",
"protein_id": "NP_001399958.1",
"transcript_support_level": null,
"aa_start": 1085,
"aa_end": null,
"aa_length": 1091,
"cds_start": 3255,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3304,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2610G>C",
"hgvs_p": "p.Glu870Asp",
"transcript": "NM_001413023.1",
"protein_id": "NP_001399952.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 876,
"cds_start": 2610,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 3795,
"cdna_end": null,
"cdna_length": 3959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2544G>C",
"hgvs_p": "p.Glu848Asp",
"transcript": "NM_001413041.1",
"protein_id": "NP_001399970.1",
"transcript_support_level": null,
"aa_start": 848,
"aa_end": null,
"aa_length": 854,
"cds_start": 2544,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 3791,
"cdna_end": null,
"cdna_length": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2535G>C",
"hgvs_p": "p.Glu845Asp",
"transcript": "NM_001413021.1",
"protein_id": "NP_001399950.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 851,
"cds_start": 2535,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3369,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2535G>C",
"hgvs_p": "p.Glu845Asp",
"transcript": "NM_001413022.1",
"protein_id": "NP_001399951.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 851,
"cds_start": 2535,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3720,
"cdna_end": null,
"cdna_length": 3884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2535G>C",
"hgvs_p": "p.Glu845Asp",
"transcript": "NM_001413024.1",
"protein_id": "NP_001399953.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 851,
"cds_start": 2535,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3617,
"cdna_end": null,
"cdna_length": 3781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2535G>C",
"hgvs_p": "p.Glu845Asp",
"transcript": "NM_001413028.1",
"protein_id": "NP_001399957.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 851,
"cds_start": 2535,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3445,
"cdna_end": null,
"cdna_length": 3609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2535G>C",
"hgvs_p": "p.Glu845Asp",
"transcript": "NM_001413034.1",
"protein_id": "NP_001399963.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 851,
"cds_start": 2535,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3624,
"cdna_end": null,
"cdna_length": 3788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2535G>C",
"hgvs_p": "p.Glu845Asp",
"transcript": "NM_001413035.1",
"protein_id": "NP_001399964.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 851,
"cds_start": 2535,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3552,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2535G>C",
"hgvs_p": "p.Glu845Asp",
"transcript": "NM_001413040.1",
"protein_id": "NP_001399969.1",
"transcript_support_level": null,
"aa_start": 845,
"aa_end": null,
"aa_length": 851,
"cds_start": 2535,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3625,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2505G>C",
"hgvs_p": "p.Glu835Asp",
"transcript": "NM_001413042.1",
"protein_id": "NP_001399971.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 841,
"cds_start": 2505,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 3690,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_138431.3",
"gene_symbol": "SLC33A2",
"hgnc_id": 25157,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*288C>G",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000301327.5",
"gene_symbol": "MFSD3",
"hgnc_id": 25157,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*288C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Baller-Gerold syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Baller-Gerold syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}