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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: 14-37246853-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=37246853&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MIPOL1",
"hgnc_id": 21460,
"hgvs_c": "c.-198-250A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001388069.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 45264,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.49000000953674316,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 442,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5983,
"cdna_start": null,
"cds_end": null,
"cds_length": 1329,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001388067.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.-198-250A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000684589.1",
"protein_coding": true,
"protein_id": "NP_001374996.1",
"strand": true,
"transcript": "NM_001388067.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 442,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5983,
"cdna_start": null,
"cds_end": null,
"cds_length": 1329,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684589.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.-198-250A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001388067.1",
"protein_coding": true,
"protein_id": "ENSP00000506738.1",
"strand": true,
"transcript": "ENST00000684589.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 442,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7185,
"cdna_start": null,
"cds_end": null,
"cds_length": 1329,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000327441.11",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.-198-250A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000333539.7",
"strand": true,
"transcript": "ENST00000327441.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 442,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": null,
"cds_end": null,
"cds_length": 1329,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000396294.7",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.-198-250A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379589.2",
"strand": true,
"transcript": "ENST00000396294.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 424,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2282,
"cdna_start": null,
"cds_end": null,
"cds_length": 1275,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000556451.5",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.-278-250A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450479.1",
"strand": true,
"transcript": "ENST00000556451.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 411,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2389,
"cdna_start": null,
"cds_end": null,
"cds_length": 1236,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000539062.6",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.-366-250A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438319.2",
"strand": true,
"transcript": "ENST00000539062.6",
"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": 7434,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000555870.5",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "n.-366-250A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000452478.1",
"strand": true,
"transcript": "ENST00000555870.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 519,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3508,
"cdna_start": null,
"cds_end": null,
"cds_length": 1560,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001388069.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.-198-250A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374998.1",
"strand": true,
"transcript": "NM_001388069.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 519,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3740,
"cdna_start": null,
"cds_end": null,
"cds_length": 1560,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000694964.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.-198-250A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511967.1",
"strand": true,
"transcript": "ENST00000694964.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 502,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2450,
"cdna_start": null,
"cds_end": null,
"cds_length": 1509,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931731.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.-198-250A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601790.1",
"strand": true,
"transcript": "ENST00000931731.1",
"transcript_support_level": null
},
{
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"aa_ref": 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": 1470,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909324.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.-198-250A>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579383.1",
"strand": true,
"transcript": "ENST00000909324.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000909326.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000579385.1",
"strand": true,
"transcript": "ENST00000909326.1",
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},
{
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"biotype": "protein_coding",
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],
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"feature": "ENST00000909329.1",
"gene_hgnc_id": 21460,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000579388.1",
"strand": true,
"transcript": "ENST00000909329.1",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
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"feature": "ENST00000971101.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.-198-250A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000641160.1",
"strand": true,
"transcript": "ENST00000971101.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000971106.1",
"gene_hgnc_id": 21460,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000641165.1",
"strand": true,
"transcript": "ENST00000971106.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000971108.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.-198-250A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000641167.1",
"strand": true,
"transcript": "ENST00000971108.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 1467,
"cds_start": null,
"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000694965.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.-366-250A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000511968.1",
"strand": true,
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},
{
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"consequences": [
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],
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"feature": "ENST00000971099.1",
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"protein_coding": true,
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"strand": true,
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},
{
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],
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"feature": "ENST00000909325.1",
"gene_hgnc_id": 21460,
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"protein_coding": true,
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"strand": true,
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},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000909322.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.-198-250A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579381.1",
"strand": true,
"transcript": "ENST00000909322.1",
"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": 2535,
"cdna_start": null,
"cds_end": null,
"cds_length": 1356,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000694961.1",
"gene_hgnc_id": 21460,
"gene_symbol": "MIPOL1",
"hgvs_c": "c.-198-250A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000511993.1",
"strand": true,
"transcript": "ENST00000694961.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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