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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: 6-90535010-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=90535010&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MAP3K7",
"hgnc_id": 6859,
"hgvs_c": "c.1356+1327G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_145331.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 606,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4932,
"cdna_start": null,
"cds_end": null,
"cds_length": 1821,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_145331.3",
"gene_hgnc_id": 6859,
"gene_symbol": "MAP3K7",
"hgvs_c": "c.1356+1327G>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000369329.8",
"protein_coding": true,
"protein_id": "NP_663304.1",
"strand": false,
"transcript": "NM_145331.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 606,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4932,
"cdna_start": null,
"cds_end": null,
"cds_length": 1821,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369329.8",
"gene_hgnc_id": 6859,
"gene_symbol": "MAP3K7",
"hgvs_c": "c.1356+1327G>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145331.3",
"protein_coding": true,
"protein_id": "ENSP00000358335.3",
"strand": false,
"transcript": "ENST00000369329.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 579,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4830,
"cdna_start": null,
"cds_end": null,
"cds_length": 1740,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369332.7",
"gene_hgnc_id": 6859,
"gene_symbol": "MAP3K7",
"hgvs_c": "c.1275+1327G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358338.3",
"strand": false,
"transcript": "ENST00000369332.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 518,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4633,
"cdna_start": null,
"cds_end": null,
"cds_length": 1557,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369325.7",
"gene_hgnc_id": 6859,
"gene_symbol": "MAP3K7",
"hgvs_c": "c.1356+1327G>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358331.3",
"strand": false,
"transcript": "ENST00000369325.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 491,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4558,
"cdna_start": null,
"cds_end": null,
"cds_length": 1476,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369327.7",
"gene_hgnc_id": 6859,
"gene_symbol": "MAP3K7",
"hgvs_c": "c.1275+1327G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358333.3",
"strand": false,
"transcript": "ENST00000369327.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 625,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2869,
"cdna_start": null,
"cds_end": null,
"cds_length": 1878,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000943037.1",
"gene_hgnc_id": 6859,
"gene_symbol": "MAP3K7",
"hgvs_c": "c.1413+1327G>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613096.1",
"strand": false,
"transcript": "ENST00000943037.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 617,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": null,
"cds_end": null,
"cds_length": 1854,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871671.1",
"gene_hgnc_id": 6859,
"gene_symbol": "MAP3K7",
"hgvs_c": "c.1356+1327G>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541730.1",
"strand": false,
"transcript": "ENST00000871671.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 604,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2768,
"cdna_start": null,
"cds_end": null,
"cds_length": 1815,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000700592.1",
"gene_hgnc_id": 6859,
"gene_symbol": "MAP3K7",
"hgvs_c": "c.1350+1327G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515083.1",
"strand": false,
"transcript": "ENST00000700592.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 589,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4884,
"cdna_start": null,
"cds_end": null,
"cds_length": 1770,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933669.1",
"gene_hgnc_id": 6859,
"gene_symbol": "MAP3K7",
"hgvs_c": "c.1305+1327G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603728.1",
"strand": false,
"transcript": "ENST00000933669.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 588,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2741,
"cdna_start": null,
"cds_end": null,
"cds_length": 1767,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933670.1",
"gene_hgnc_id": 6859,
"gene_symbol": "MAP3K7",
"hgvs_c": "c.1302+1327G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603729.1",
"strand": false,
"transcript": "ENST00000933670.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1755,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871670.1",
"gene_hgnc_id": 6859,
"gene_symbol": "MAP3K7",
"hgvs_c": "c.1290+1327G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541729.1",
"strand": false,
"transcript": "ENST00000871670.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 16,
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"feature": "NM_003188.4",
"gene_hgnc_id": 6859,
"gene_symbol": "MAP3K7",
"hgvs_c": "c.1275+1327G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_003179.1",
"strand": false,
"transcript": "NM_003188.4",
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},
{
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"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000700591.1",
"gene_hgnc_id": 6859,
"gene_symbol": "MAP3K7",
"hgvs_c": "c.1209+1327G>A",
"hgvs_p": null,
"intron_rank": 11,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515082.1",
"strand": false,
"transcript": "ENST00000700591.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1611,
"cds_start": null,
"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000943036.1",
"gene_hgnc_id": 6859,
"gene_symbol": "MAP3K7",
"hgvs_c": "c.1146+1327G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000613095.1",
"strand": false,
"transcript": "ENST00000943036.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 16,
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"feature": "NM_145332.3",
"gene_hgnc_id": 6859,
"gene_symbol": "MAP3K7",
"hgvs_c": "c.1356+1327G>A",
"hgvs_p": null,
"intron_rank": 13,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_663305.1",
"strand": false,
"transcript": "NM_145332.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_145333.3",
"gene_hgnc_id": 6859,
"gene_symbol": "MAP3K7",
"hgvs_c": "c.1275+1327G>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_663306.1",
"strand": false,
"transcript": "NM_145333.3",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2476,
"cdna_start": null,
"cds_end": null,
"cds_length": 1431,
"cds_start": null,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000700593.1",
"gene_hgnc_id": 6859,
"gene_symbol": "MAP3K7",
"hgvs_c": "c.966+1327G>A",
"hgvs_p": null,
"intron_rank": 12,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000515084.1",
"strand": false,
"transcript": "ENST00000700593.1",
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},
{
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"cds_start": null,
"consequences": [
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],
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"feature": "ENST00000703101.1",
"gene_hgnc_id": 6859,
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"hgvs_c": "c.121-11227G>A",
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"mane_plus": null,
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"protein_id": "ENSP00000515169.1",
"strand": false,
"transcript": "ENST00000703101.1",
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},
{
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"cds_start": null,
"consequences": [
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],
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"feature": "XM_006715553.4",
"gene_hgnc_id": 6859,
"gene_symbol": "MAP3K7",
"hgvs_c": "c.966+1327G>A",
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"intron_rank": 11,
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"protein_coding": true,
"protein_id": "XP_006715616.1",
"strand": false,
"transcript": "XM_006715553.4",
"transcript_support_level": null
},
{
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"biotype": "retained_intron",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000369320.1",
"gene_hgnc_id": 6859,
"gene_symbol": "MAP3K7",
"hgvs_c": "n.2045+1327G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000369320.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000479630.1",
"gene_hgnc_id": 6859,
"gene_symbol": "MAP3K7",
"hgvs_c": "n.882+1327G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000479630.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
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