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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: 17-75628746-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75628746&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75628746,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000317905.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"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": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2506G>A",
"hgvs_p": "p.Asp836Asn",
"transcript": "NM_004259.7",
"protein_id": "NP_004250.4",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 991,
"cds_start": 2506,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 2631,
"cdna_end": null,
"cdna_length": 3669,
"mane_select": "ENST00000317905.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"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": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2506G>A",
"hgvs_p": "p.Asp836Asn",
"transcript": "ENST00000317905.10",
"protein_id": "ENSP00000317636.5",
"transcript_support_level": 1,
"aa_start": 836,
"aa_end": null,
"aa_length": 991,
"cds_start": 2506,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 2631,
"cdna_end": null,
"cdna_length": 3669,
"mane_select": "NM_004259.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"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": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2425G>A",
"hgvs_p": "p.Asp809Asn",
"transcript": "ENST00000423245.6",
"protein_id": "ENSP00000394820.2",
"transcript_support_level": 1,
"aa_start": 809,
"aa_end": null,
"aa_length": 964,
"cds_start": 2425,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 2538,
"cdna_end": null,
"cdna_length": 3576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "n.2042G>A",
"hgvs_p": null,
"transcript": "ENST00000443199.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "n.129G>A",
"hgvs_p": null,
"transcript": "ENST00000578865.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Asp197Asn",
"transcript": "ENST00000582548.1",
"protein_id": "ENSP00000462291.1",
"transcript_support_level": 5,
"aa_start": 197,
"aa_end": null,
"aa_length": 235,
"cds_start": 589,
"cds_end": null,
"cds_length": 709,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 709,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Asp60Asn",
"transcript": "ENST00000581825.1",
"protein_id": "ENSP00000462678.1",
"transcript_support_level": 3,
"aa_start": 60,
"aa_end": null,
"aa_length": 205,
"cds_start": 178,
"cds_end": null,
"cds_length": 618,
"cdna_start": 179,
"cdna_end": null,
"cdna_length": 793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2569G>A",
"hgvs_p": "p.Asp857Asn",
"transcript": "XM_005257818.5",
"protein_id": "XP_005257875.1",
"transcript_support_level": null,
"aa_start": 857,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2569,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 2694,
"cdna_end": null,
"cdna_length": 3732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"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": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.2506G>A",
"hgvs_p": "p.Asp836Asn",
"transcript": "XM_047437085.1",
"protein_id": "XP_047293041.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 991,
"cds_start": 2506,
"cds_end": null,
"cds_length": 2976,
"cdna_start": 3103,
"cdna_end": null,
"cdna_length": 4141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Asp478Asn",
"transcript": "XM_047437086.1",
"protein_id": "XP_047293042.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 633,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 2588,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1432G>A",
"hgvs_p": "p.Asp478Asn",
"transcript": "XM_047437087.1",
"protein_id": "XP_047293043.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 633,
"cds_start": 1432,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1919,
"cdna_end": null,
"cdna_length": 2957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1387G>A",
"hgvs_p": "p.Asp463Asn",
"transcript": "XM_011525484.2",
"protein_id": "XP_011523786.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 618,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1702,
"cdna_end": null,
"cdna_length": 2740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Asp457Asn",
"transcript": "XM_011525485.3",
"protein_id": "XP_011523787.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 612,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 2696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1369G>A",
"hgvs_p": "p.Asp457Asn",
"transcript": "XM_047437088.1",
"protein_id": "XP_047293044.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 612,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1443,
"cdna_end": null,
"cdna_length": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1354G>A",
"hgvs_p": "p.Asp452Asn",
"transcript": "XM_006722186.2",
"protein_id": "XP_006722249.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 607,
"cds_start": 1354,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 1427,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1324G>A",
"hgvs_p": "p.Asp442Asn",
"transcript": "XM_047437089.1",
"protein_id": "XP_047293045.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 597,
"cds_start": 1324,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 2677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Asp431Asn",
"transcript": "XM_005257822.5",
"protein_id": "XP_005257879.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 586,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 4684,
"cdna_end": null,
"cdna_length": 5722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1291G>A",
"hgvs_p": "p.Asp431Asn",
"transcript": "XM_047437090.1",
"protein_id": "XP_047293046.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 586,
"cds_start": 1291,
"cds_end": null,
"cds_length": 1761,
"cdna_start": 4728,
"cdna_end": null,
"cdna_length": 5766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Asp346Asn",
"transcript": "XM_011525486.3",
"protein_id": "XP_011523788.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 501,
"cds_start": 1036,
"cds_end": null,
"cds_length": 1506,
"cdna_start": 1612,
"cdna_end": null,
"cdna_length": 2650,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RECQL5",
"gene_hgnc_id": 9950,
"dbsnp": "rs374476092",
"frequency_reference_population": 0.0001764468,
"hom_count_reference_population": 0,
"allele_count_reference_population": 281,
"gnomad_exomes_af": 0.000186062,
"gnomad_genomes_af": 0.0000854308,
"gnomad_exomes_ac": 268,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08347436785697937,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.063,
"revel_prediction": "Benign",
"alphamissense_score": 0.0784,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.387,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000317905.10",
"gene_symbol": "RECQL5",
"hgnc_id": 9950,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.2506G>A",
"hgvs_p": "p.Asp836Asn"
}
],
"clinvar_disease": "RECQL5-related disorder,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "RECQL5-related disorder|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}