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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: 7-157416078-TC-CT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=157416078&ref=TC&alt=CT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "DNAJB6",
"hgnc_id": 14888,
"hgvs_c": "c.961_962delTCinsCT",
"hgvs_p": "p.Ser321Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_058246.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"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": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "S",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2489,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 981,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_058246.4",
"gene_hgnc_id": 14888,
"gene_symbol": "DNAJB6",
"hgvs_c": "c.961_962delTCinsCT",
"hgvs_p": "p.Ser321Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262177.9",
"protein_coding": true,
"protein_id": "NP_490647.1",
"strand": true,
"transcript": "NM_058246.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "S",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2489,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 981,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000262177.9",
"gene_hgnc_id": 14888,
"gene_symbol": "DNAJB6",
"hgvs_c": "c.961_962delTCinsCT",
"hgvs_p": "p.Ser321Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_058246.4",
"protein_coding": true,
"protein_id": "ENSP00000262177.4",
"strand": true,
"transcript": "ENST00000262177.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7992,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000459889.5",
"gene_hgnc_id": 14888,
"gene_symbol": "DNAJB6",
"hgvs_c": "n.*5484_*5485delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000488263.1",
"strand": true,
"transcript": "ENST00000459889.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7992,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000459889.5",
"gene_hgnc_id": 14888,
"gene_symbol": "DNAJB6",
"hgvs_c": "n.*5484_*5485delTCinsCT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000488263.1",
"strand": true,
"transcript": "ENST00000459889.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 356,
"aa_ref": "S",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2575,
"cdna_start": 1218,
"cds_end": null,
"cds_length": 1071,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867739.1",
"gene_hgnc_id": 14888,
"gene_symbol": "DNAJB6",
"hgvs_c": "c.1051_1052delTCinsCT",
"hgvs_p": "p.Ser351Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537798.1",
"strand": true,
"transcript": "ENST00000867739.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 338,
"aa_ref": "S",
"aa_start": 333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2520,
"cdna_start": 1162,
"cds_end": null,
"cds_length": 1017,
"cds_start": 997,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956621.1",
"gene_hgnc_id": 14888,
"gene_symbol": "DNAJB6",
"hgvs_c": "c.997_998delTCinsCT",
"hgvs_p": "p.Ser333Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626680.1",
"strand": true,
"transcript": "ENST00000956621.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "S",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2607,
"cdna_start": 1246,
"cds_end": null,
"cds_length": 981,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867735.1",
"gene_hgnc_id": 14888,
"gene_symbol": "DNAJB6",
"hgvs_c": "c.961_962delTCinsCT",
"hgvs_p": "p.Ser321Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537794.1",
"strand": true,
"transcript": "ENST00000867735.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "S",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2409,
"cdna_start": 1047,
"cds_end": null,
"cds_length": 981,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867741.1",
"gene_hgnc_id": 14888,
"gene_symbol": "DNAJB6",
"hgvs_c": "c.961_962delTCinsCT",
"hgvs_p": "p.Ser321Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537800.1",
"strand": true,
"transcript": "ENST00000867741.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "S",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2546,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 981,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867742.1",
"gene_hgnc_id": 14888,
"gene_symbol": "DNAJB6",
"hgvs_c": "c.961_962delTCinsCT",
"hgvs_p": "p.Ser321Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537801.1",
"strand": true,
"transcript": "ENST00000867742.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "S",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2762,
"cdna_start": 1403,
"cds_end": null,
"cds_length": 981,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911733.1",
"gene_hgnc_id": 14888,
"gene_symbol": "DNAJB6",
"hgvs_c": "c.961_962delTCinsCT",
"hgvs_p": "p.Ser321Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581792.1",
"strand": true,
"transcript": "ENST00000911733.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "S",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2497,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 981,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911737.1",
"gene_hgnc_id": 14888,
"gene_symbol": "DNAJB6",
"hgvs_c": "c.961_962delTCinsCT",
"hgvs_p": "p.Ser321Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581796.1",
"strand": true,
"transcript": "ENST00000911737.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "S",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2411,
"cdna_start": 1054,
"cds_end": null,
"cds_length": 981,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000911739.1",
"gene_hgnc_id": 14888,
"gene_symbol": "DNAJB6",
"hgvs_c": "c.961_962delTCinsCT",
"hgvs_p": "p.Ser321Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581798.1",
"strand": true,
"transcript": "ENST00000911739.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "S",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2885,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 981,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956617.1",
"gene_hgnc_id": 14888,
"gene_symbol": "DNAJB6",
"hgvs_c": "c.961_962delTCinsCT",
"hgvs_p": "p.Ser321Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626676.1",
"strand": true,
"transcript": "ENST00000956617.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "S",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 981,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956620.1",
"gene_hgnc_id": 14888,
"gene_symbol": "DNAJB6",
"hgvs_c": "c.961_962delTCinsCT",
"hgvs_p": "p.Ser321Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626679.1",
"strand": true,
"transcript": "ENST00000956620.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "S",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2904,
"cdna_start": 1543,
"cds_end": null,
"cds_length": 981,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956628.1",
"gene_hgnc_id": 14888,
"gene_symbol": "DNAJB6",
"hgvs_c": "c.961_962delTCinsCT",
"hgvs_p": "p.Ser321Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626687.1",
"strand": true,
"transcript": "ENST00000956628.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "S",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2410,
"cdna_start": 1055,
"cds_end": null,
"cds_length": 981,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956629.1",
"gene_hgnc_id": 14888,
"gene_symbol": "DNAJB6",
"hgvs_c": "c.961_962delTCinsCT",
"hgvs_p": "p.Ser321Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626688.1",
"strand": true,
"transcript": "ENST00000956629.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "S",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2857,
"cdna_start": 1497,
"cds_end": null,
"cds_length": 981,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956630.1",
"gene_hgnc_id": 14888,
"gene_symbol": "DNAJB6",
"hgvs_c": "c.961_962delTCinsCT",
"hgvs_p": "p.Ser321Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626689.1",
"strand": true,
"transcript": "ENST00000956630.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "S",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 981,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956631.1",
"gene_hgnc_id": 14888,
"gene_symbol": "DNAJB6",
"hgvs_c": "c.961_962delTCinsCT",
"hgvs_p": "p.Ser321Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626690.1",
"strand": true,
"transcript": "ENST00000956631.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 326,
"aa_ref": "S",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2648,
"cdna_start": 1293,
"cds_end": null,
"cds_length": 981,
"cds_start": 961,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956632.1",
"gene_hgnc_id": 14888,
"gene_symbol": "DNAJB6",
"hgvs_c": "c.961_962delTCinsCT",
"hgvs_p": "p.Ser321Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626691.1",
"strand": true,
"transcript": "ENST00000956632.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 325,
"aa_ref": "S",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": 1135,
"cds_end": null,
"cds_length": 978,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000867734.1",
"gene_hgnc_id": 14888,
"gene_symbol": "DNAJB6",
"hgvs_c": "c.958_959delTCinsCT",
"hgvs_p": "p.Ser320Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537793.1",
"strand": true,
"transcript": "ENST00000867734.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 325,
"aa_ref": "S",
"aa_start": 320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 978,
"cds_start": 958,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000956618.1",
"gene_hgnc_id": 14888,
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"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.404,
"pos": 157416078,
"ref": "TC",
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"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
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"transcript": "NM_058246.4"
}
]
}