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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: 8-144511923-TGG-CGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144511923&ref=TGG&alt=CGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "RECQL4",
"hgnc_id": 9949,
"hgvs_c": "c.3454_3456delCCAinsTCG",
"hgvs_p": "p.Pro1152Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001413019.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "P",
"aa_start": 1127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3819,
"cdna_start": 3430,
"cds_end": null,
"cds_length": 3627,
"cds_start": 3379,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004260.4",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3379_3381delCCAinsTCG",
"hgvs_p": "p.Pro1127Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000617875.6",
"protein_coding": true,
"protein_id": "NP_004251.4",
"strand": false,
"transcript": "NM_004260.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "P",
"aa_start": 1127,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3819,
"cdna_start": 3430,
"cds_end": null,
"cds_length": 3627,
"cds_start": 3379,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000617875.6",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3379_3381delCCAinsTCG",
"hgvs_p": "p.Pro1127Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004260.4",
"protein_coding": true,
"protein_id": "ENSP00000482313.2",
"strand": false,
"transcript": "ENST00000617875.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 851,
"aa_ref": "P",
"aa_start": 770,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3896,
"cdna_start": 3507,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2308,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000621189.4",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2308_2310delCCAinsTCG",
"hgvs_p": "p.Pro770Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483145.1",
"strand": false,
"transcript": "ENST00000621189.4",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1233,
"aa_ref": "P",
"aa_start": 1152,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3894,
"cdna_start": 3505,
"cds_end": null,
"cds_length": 3702,
"cds_start": 3454,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413019.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3454_3456delCCAinsTCG",
"hgvs_p": "p.Pro1152Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399948.1",
"strand": false,
"transcript": "NM_001413019.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1211,
"aa_ref": "P",
"aa_start": 1127,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3828,
"cdna_start": 3430,
"cds_end": null,
"cds_length": 3636,
"cds_start": 3379,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413036.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3379_3381delCCAinsTCG",
"hgvs_p": "p.Pro1127Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399965.1",
"strand": false,
"transcript": "NM_001413036.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1198,
"aa_ref": "P",
"aa_start": 1117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3789,
"cdna_start": 3400,
"cds_end": null,
"cds_length": 3597,
"cds_start": 3349,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413039.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3349_3351delCCAinsTCG",
"hgvs_p": "p.Pro1117Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399968.1",
"strand": false,
"transcript": "NM_001413039.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1177,
"aa_ref": "P",
"aa_start": 1096,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3726,
"cdna_start": 3338,
"cds_end": null,
"cds_length": 3534,
"cds_start": 3286,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971710.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3286_3288delCCAinsTCG",
"hgvs_p": "p.Pro1096Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641769.1",
"strand": false,
"transcript": "ENST00000971710.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1176,
"aa_ref": "P",
"aa_start": 1095,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3723,
"cdna_start": 3334,
"cds_end": null,
"cds_length": 3531,
"cds_start": 3283,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413020.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3283_3285delCCAinsTCG",
"hgvs_p": "p.Pro1095Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399949.1",
"strand": false,
"transcript": "NM_001413020.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1165,
"aa_ref": "P",
"aa_start": 1084,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3690,
"cdna_start": 3301,
"cds_end": null,
"cds_length": 3498,
"cds_start": 3250,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413025.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3250_3252delCCAinsTCG",
"hgvs_p": "p.Pro1084Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399954.1",
"strand": false,
"transcript": "NM_001413025.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "P",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3687,
"cdna_start": 3298,
"cds_end": null,
"cds_length": 3495,
"cds_start": 3247,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413033.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3247_3249delCCAinsTCG",
"hgvs_p": "p.Pro1083Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399962.1",
"strand": false,
"transcript": "NM_001413033.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "P",
"aa_start": 1083,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3644,
"cdna_start": 3266,
"cds_end": null,
"cds_length": 3495,
"cds_start": 3247,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000887977.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3247_3249delCCAinsTCG",
"hgvs_p": "p.Pro1083Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558036.1",
"strand": false,
"transcript": "ENST00000887977.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1154,
"aa_ref": "P",
"aa_start": 1073,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3627,
"cdna_start": 3239,
"cds_end": null,
"cds_length": 3465,
"cds_start": 3217,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922086.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3217_3219delCCAinsTCG",
"hgvs_p": "p.Pro1073Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592145.1",
"strand": false,
"transcript": "ENST00000922086.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "P",
"aa_start": 1061,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 3232,
"cds_end": null,
"cds_length": 3429,
"cds_start": 3181,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413018.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3181_3183delCCAinsTCG",
"hgvs_p": "p.Pro1061Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399947.1",
"strand": false,
"transcript": "NM_001413018.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1110,
"aa_ref": "P",
"aa_start": 1029,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3525,
"cdna_start": 3136,
"cds_end": null,
"cds_length": 3333,
"cds_start": 3085,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413017.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3085_3087delCCAinsTCG",
"hgvs_p": "p.Pro1029Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399946.1",
"strand": false,
"transcript": "NM_001413017.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1091,
"aa_ref": "P",
"aa_start": 1010,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3468,
"cdna_start": 3079,
"cds_end": null,
"cds_length": 3276,
"cds_start": 3028,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413029.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.3028_3030delCCAinsTCG",
"hgvs_p": "p.Pro1010Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399958.1",
"strand": false,
"transcript": "NM_001413029.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1060,
"aa_ref": "P",
"aa_start": 979,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3344,
"cdna_start": 2961,
"cds_end": null,
"cds_length": 3183,
"cds_start": 2935,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000922087.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2935_2937delCCAinsTCG",
"hgvs_p": "p.Pro979Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592146.1",
"strand": false,
"transcript": "ENST00000922087.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 876,
"aa_ref": "P",
"aa_start": 795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3959,
"cdna_start": 3570,
"cds_end": null,
"cds_length": 2631,
"cds_start": 2383,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413023.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2383_2385delCCAinsTCG",
"hgvs_p": "p.Pro795Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399952.1",
"strand": false,
"transcript": "NM_001413023.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 854,
"aa_ref": "P",
"aa_start": 773,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3955,
"cdna_start": 3566,
"cds_end": null,
"cds_length": 2565,
"cds_start": 2317,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413041.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2317_2319delCCAinsTCG",
"hgvs_p": "p.Pro773Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399970.1",
"strand": false,
"transcript": "NM_001413041.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 851,
"aa_ref": "P",
"aa_start": 770,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3533,
"cdna_start": 3144,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2308,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413021.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2308_2310delCCAinsTCG",
"hgvs_p": "p.Pro770Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399950.1",
"strand": false,
"transcript": "NM_001413021.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 851,
"aa_ref": "P",
"aa_start": 770,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3884,
"cdna_start": 3495,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2308,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413022.1",
"gene_hgnc_id": 9949,
"gene_symbol": "RECQL4",
"hgvs_c": "c.2308_2310delCCAinsTCG",
"hgvs_p": "p.Pro770Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001399951.1",
"strand": false,
"transcript": "NM_001413022.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 851,
"aa_ref": "P",
"aa_start": 770,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3781,
"cdna_start": 3392,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2308,
"consequences": [
"missense_variant"
],
"exon_count": 20,
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