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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: 8-144512247-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144512247&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144512247,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000617875.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3133G>A",
"hgvs_p": "p.Ala1045Thr",
"transcript": "NM_004260.4",
"protein_id": "NP_004251.4",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3133,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 3182,
"cdna_end": null,
"cdna_length": 3819,
"mane_select": "ENST00000617875.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3133G>A",
"hgvs_p": "p.Ala1045Thr",
"transcript": "ENST00000617875.6",
"protein_id": "ENSP00000482313.2",
"transcript_support_level": 1,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1208,
"cds_start": 3133,
"cds_end": null,
"cds_length": 3627,
"cdna_start": 3182,
"cdna_end": null,
"cdna_length": 3819,
"mane_select": "NM_004260.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Ala688Thr",
"transcript": "ENST00000621189.4",
"protein_id": "ENSP00000483145.1",
"transcript_support_level": 1,
"aa_start": 688,
"aa_end": null,
"aa_length": 851,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3259,
"cdna_end": null,
"cdna_length": 3896,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3208G>A",
"hgvs_p": "p.Ala1070Thr",
"transcript": "NM_001413019.1",
"protein_id": "NP_001399948.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1233,
"cds_start": 3208,
"cds_end": null,
"cds_length": 3702,
"cdna_start": 3257,
"cdna_end": null,
"cdna_length": 3894,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3133G>A",
"hgvs_p": "p.Ala1045Thr",
"transcript": "NM_001413036.1",
"protein_id": "NP_001399965.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1211,
"cds_start": 3133,
"cds_end": null,
"cds_length": 3636,
"cdna_start": 3182,
"cdna_end": null,
"cdna_length": 3828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3103G>A",
"hgvs_p": "p.Ala1035Thr",
"transcript": "NM_001413039.1",
"protein_id": "NP_001399968.1",
"transcript_support_level": null,
"aa_start": 1035,
"aa_end": null,
"aa_length": 1198,
"cds_start": 3103,
"cds_end": null,
"cds_length": 3597,
"cdna_start": 3152,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3037G>A",
"hgvs_p": "p.Ala1013Thr",
"transcript": "NM_001413020.1",
"protein_id": "NP_001399949.1",
"transcript_support_level": null,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1176,
"cds_start": 3037,
"cds_end": null,
"cds_length": 3531,
"cdna_start": 3086,
"cdna_end": null,
"cdna_length": 3723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3004G>A",
"hgvs_p": "p.Ala1002Thr",
"transcript": "NM_001413025.1",
"protein_id": "NP_001399954.1",
"transcript_support_level": null,
"aa_start": 1002,
"aa_end": null,
"aa_length": 1165,
"cds_start": 3004,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 3053,
"cdna_end": null,
"cdna_length": 3690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.3001G>A",
"hgvs_p": "p.Ala1001Thr",
"transcript": "NM_001413033.1",
"protein_id": "NP_001399962.1",
"transcript_support_level": null,
"aa_start": 1001,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3001,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3050,
"cdna_end": null,
"cdna_length": 3687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2935G>A",
"hgvs_p": "p.Ala979Thr",
"transcript": "NM_001413018.1",
"protein_id": "NP_001399947.1",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 1142,
"cds_start": 2935,
"cds_end": null,
"cds_length": 3429,
"cdna_start": 2984,
"cdna_end": null,
"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2839G>A",
"hgvs_p": "p.Ala947Thr",
"transcript": "NM_001413017.1",
"protein_id": "NP_001399946.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 1110,
"cds_start": 2839,
"cds_end": null,
"cds_length": 3333,
"cdna_start": 2888,
"cdna_end": null,
"cdna_length": 3525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2782G>A",
"hgvs_p": "p.Ala928Thr",
"transcript": "NM_001413029.1",
"protein_id": "NP_001399958.1",
"transcript_support_level": null,
"aa_start": 928,
"aa_end": null,
"aa_length": 1091,
"cds_start": 2782,
"cds_end": null,
"cds_length": 3276,
"cdna_start": 2831,
"cdna_end": null,
"cdna_length": 3468,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2137G>A",
"hgvs_p": "p.Ala713Thr",
"transcript": "NM_001413023.1",
"protein_id": "NP_001399952.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 876,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2631,
"cdna_start": 3322,
"cdna_end": null,
"cdna_length": 3959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Ala691Thr",
"transcript": "NM_001413041.1",
"protein_id": "NP_001399970.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 854,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 3318,
"cdna_end": null,
"cdna_length": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Ala688Thr",
"transcript": "NM_001413021.1",
"protein_id": "NP_001399950.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 851,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2896,
"cdna_end": null,
"cdna_length": 3533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Ala688Thr",
"transcript": "NM_001413022.1",
"protein_id": "NP_001399951.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 851,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3247,
"cdna_end": null,
"cdna_length": 3884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Ala688Thr",
"transcript": "NM_001413024.1",
"protein_id": "NP_001399953.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 851,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3144,
"cdna_end": null,
"cdna_length": 3781,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Ala688Thr",
"transcript": "NM_001413028.1",
"protein_id": "NP_001399957.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 851,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 2972,
"cdna_end": null,
"cdna_length": 3609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Ala688Thr",
"transcript": "NM_001413034.1",
"protein_id": "NP_001399963.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 851,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3151,
"cdna_end": null,
"cdna_length": 3788,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Ala688Thr",
"transcript": "NM_001413035.1",
"protein_id": "NP_001399964.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 851,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3079,
"cdna_end": null,
"cdna_length": 3716,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2062G>A",
"hgvs_p": "p.Ala688Thr",
"transcript": "NM_001413040.1",
"protein_id": "NP_001399969.1",
"transcript_support_level": null,
"aa_start": 688,
"aa_end": null,
"aa_length": 851,
"cds_start": 2062,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 3152,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL4",
"gene_hgnc_id": 9949,
"hgvs_c": "c.2032G>A",
"hgvs_p": "p.Ala678Thr",
"transcript": "NM_001413042.1",
"protein_id": "NP_001399971.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 841,
"cds_start": 2032,
"cds_end": null,
"cds_length": 2526,
"cdna_start": 3217,
"cdna_end": null,
"cdna_length": 3854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
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{
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"pathogenic_score": 0,
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"verdict": "Benign",
"transcript": "ENST00000617875.6",
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],
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],
"clinvar_disease": "Baller-Gerold syndrome,RECQL4-related disorder,Rapadilino syndrome,Rothmund-Thomson syndrome type 2,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:4 O:1",
"phenotype_combined": "not specified|Baller-Gerold syndrome|not provided|RECQL4-related disorder|Rothmund-Thomson syndrome type 2|Rapadilino syndrome",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}