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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: 8-144511435-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144511435&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144511435,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004260.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"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.3623G>A",
"hgvs_p": "p.Arg1208His",
"transcript": "NM_004260.4",
"protein_id": "NP_004251.4",
"transcript_support_level": null,
"aa_start": 1208,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3623,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 3672,
"cdna_end": null,
"cdna_length": 3819,
"mane_select": "ENST00000617875.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.3623G>A",
"hgvs_p": "p.Arg1208His",
"transcript": "ENST00000617875.6",
"protein_id": "ENSP00000482313.2",
"transcript_support_level": 1,
"aa_start": 1208,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3623,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 3672,
"cdna_end": null,
"cdna_length": 3819,
"mane_select": "NM_004260.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.2552G>A",
"hgvs_p": "p.Arg851His",
"transcript": "ENST00000621189.4",
"protein_id": "ENSP00000483145.1",
"transcript_support_level": 1,
"aa_start": 851,
"aa_end": null,
"aa_length": 851,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3749,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.3698G>A",
"hgvs_p": "p.Arg1233His",
"transcript": "NM_001413019.1",
"protein_id": "NP_001399948.1",
"transcript_support_level": null,
"aa_start": 1233,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3698,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 3747,
"cdna_end": null,
"cdna_length": 3894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.3632G>A",
"hgvs_p": "p.Arg1211His",
"transcript": "NM_001413036.1",
"protein_id": "NP_001399965.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1211,
"cds_start": 3632,
"cds_end": null,
"cds_length": 3636,
"cdna_start": 3681,
"cdna_end": null,
"cdna_length": 3828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.3593G>A",
"hgvs_p": "p.Arg1198His",
"transcript": "NM_001413039.1",
"protein_id": "NP_001399968.1",
"transcript_support_level": null,
"aa_start": 1198,
"aa_end": null,
"aa_length": 1198,
"cds_start": 3593,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 3642,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.3527G>A",
"hgvs_p": "p.Arg1176His",
"transcript": "NM_001413020.1",
"protein_id": "NP_001399949.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1176,
"cds_start": 3527,
"cds_end": null,
"cds_length": 3531,
"cdna_start": 3576,
"cdna_end": null,
"cdna_length": 3723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.3494G>A",
"hgvs_p": "p.Arg1165His",
"transcript": "NM_001413025.1",
"protein_id": "NP_001399954.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3494,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3543,
"cdna_end": null,
"cdna_length": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.3491G>A",
"hgvs_p": "p.Arg1164His",
"transcript": "NM_001413033.1",
"protein_id": "NP_001399962.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3491,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3540,
"cdna_end": null,
"cdna_length": 3687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.3425G>A",
"hgvs_p": "p.Arg1142His",
"transcript": "NM_001413018.1",
"protein_id": "NP_001399947.1",
"transcript_support_level": null,
"aa_start": 1142,
"aa_end": null,
"aa_length": 1142,
"cds_start": 3425,
"cds_end": null,
"cds_length": 3429,
"cdna_start": 3474,
"cdna_end": null,
"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.3329G>A",
"hgvs_p": "p.Arg1110His",
"transcript": "NM_001413017.1",
"protein_id": "NP_001399946.1",
"transcript_support_level": null,
"aa_start": 1110,
"aa_end": null,
"aa_length": 1110,
"cds_start": 3329,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 3378,
"cdna_end": null,
"cdna_length": 3525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.3272G>A",
"hgvs_p": "p.Arg1091His",
"transcript": "NM_001413029.1",
"protein_id": "NP_001399958.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1091,
"cds_start": 3272,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 3321,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.2627G>A",
"hgvs_p": "p.Arg876His",
"transcript": "NM_001413023.1",
"protein_id": "NP_001399952.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 876,
"cds_start": 2627,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 3812,
"cdna_end": null,
"cdna_length": 3959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.2561G>A",
"hgvs_p": "p.Arg854His",
"transcript": "NM_001413041.1",
"protein_id": "NP_001399970.1",
"transcript_support_level": null,
"aa_start": 854,
"aa_end": null,
"aa_length": 854,
"cds_start": 2561,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 3808,
"cdna_end": null,
"cdna_length": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.2552G>A",
"hgvs_p": "p.Arg851His",
"transcript": "NM_001413021.1",
"protein_id": "NP_001399950.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 851,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3386,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.2552G>A",
"hgvs_p": "p.Arg851His",
"transcript": "NM_001413022.1",
"protein_id": "NP_001399951.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 851,
"cds_start": 2552,
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"cdna_start": 3737,
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"cdna_length": 3884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.2552G>A",
"hgvs_p": "p.Arg851His",
"transcript": "NM_001413024.1",
"protein_id": "NP_001399953.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 851,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3634,
"cdna_end": null,
"cdna_length": 3781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.2552G>A",
"hgvs_p": "p.Arg851His",
"transcript": "NM_001413028.1",
"protein_id": "NP_001399957.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 851,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3462,
"cdna_end": null,
"cdna_length": 3609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.2552G>A",
"hgvs_p": "p.Arg851His",
"transcript": "NM_001413034.1",
"protein_id": "NP_001399963.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 851,
"cds_start": 2552,
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"cdna_start": 3641,
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"cdna_length": 3788,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.2552G>A",
"hgvs_p": "p.Arg851His",
"transcript": "NM_001413035.1",
"protein_id": "NP_001399964.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 851,
"cds_start": 2552,
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"cdna_start": 3569,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.2552G>A",
"hgvs_p": "p.Arg851His",
"transcript": "NM_001413040.1",
"protein_id": "NP_001399969.1",
"transcript_support_level": null,
"aa_start": 851,
"aa_end": null,
"aa_length": 851,
"cds_start": 2552,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3642,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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.2522G>A",
"hgvs_p": "p.Arg841His",
"transcript": "NM_001413042.1",
"protein_id": "NP_001399971.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 841,
"cds_start": 2522,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 3707,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"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",
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],
"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
}