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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: 2-148469084-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=148469084&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 148469084,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000642680.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD5",
"gene_hgnc_id": 20444,
"hgvs_c": "c.1141T>C",
"hgvs_p": "p.Phe381Leu",
"transcript": "NM_001378120.1",
"protein_id": "NP_001365049.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 1727,
"cds_start": 1141,
"cds_end": null,
"cds_length": 5184,
"cdna_start": 2659,
"cdna_end": null,
"cdna_length": 10732,
"mane_select": "ENST00000642680.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD5",
"gene_hgnc_id": 20444,
"hgvs_c": "c.1141T>C",
"hgvs_p": "p.Phe381Leu",
"transcript": "ENST00000642680.2",
"protein_id": "ENSP00000493871.2",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 1727,
"cds_start": 1141,
"cds_end": null,
"cds_length": 5184,
"cdna_start": 2659,
"cdna_end": null,
"cdna_length": 10732,
"mane_select": "NM_001378120.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD5",
"gene_hgnc_id": 20444,
"hgvs_c": "c.1141T>C",
"hgvs_p": "p.Phe381Leu",
"transcript": "ENST00000407073.5",
"protein_id": "ENSP00000386049.1",
"transcript_support_level": 1,
"aa_start": 381,
"aa_end": null,
"aa_length": 1494,
"cds_start": 1141,
"cds_end": null,
"cds_length": 4485,
"cdna_start": 2138,
"cdna_end": null,
"cdna_length": 9512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD5",
"gene_hgnc_id": 20444,
"hgvs_c": "c.1141T>C",
"hgvs_p": "p.Phe381Leu",
"transcript": "NM_001438854.1",
"protein_id": "NP_001425783.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 1740,
"cds_start": 1141,
"cds_end": null,
"cds_length": 5223,
"cdna_start": 2718,
"cdna_end": null,
"cdna_length": 10830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD5",
"gene_hgnc_id": 20444,
"hgvs_c": "c.1141T>C",
"hgvs_p": "p.Phe381Leu",
"transcript": "NM_001438856.1",
"protein_id": "NP_001425785.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 1727,
"cds_start": 1141,
"cds_end": null,
"cds_length": 5184,
"cdna_start": 2718,
"cdna_end": null,
"cdna_length": 10791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD5",
"gene_hgnc_id": 20444,
"hgvs_c": "c.1141T>C",
"hgvs_p": "p.Phe381Leu",
"transcript": "NM_001438857.1",
"protein_id": "NP_001425786.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 1727,
"cds_start": 1141,
"cds_end": null,
"cds_length": 5184,
"cdna_start": 2746,
"cdna_end": null,
"cdna_length": 10819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD5",
"gene_hgnc_id": 20444,
"hgvs_c": "c.1141T>C",
"hgvs_p": "p.Phe381Leu",
"transcript": "NM_001438858.1",
"protein_id": "NP_001425787.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 1727,
"cds_start": 1141,
"cds_end": null,
"cds_length": 5184,
"cdna_start": 2508,
"cdna_end": null,
"cdna_length": 10581,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD5",
"gene_hgnc_id": 20444,
"hgvs_c": "c.1141T>C",
"hgvs_p": "p.Phe381Leu",
"transcript": "NM_001438855.1",
"protein_id": "NP_001425784.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 1507,
"cds_start": 1141,
"cds_end": null,
"cds_length": 4524,
"cdna_start": 2659,
"cdna_end": null,
"cdna_length": 10072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD5",
"gene_hgnc_id": 20444,
"hgvs_c": "c.1141T>C",
"hgvs_p": "p.Phe381Leu",
"transcript": "ENST00000638043.2",
"protein_id": "ENSP00000490728.2",
"transcript_support_level": 5,
"aa_start": 381,
"aa_end": null,
"aa_length": 1507,
"cds_start": 1141,
"cds_end": null,
"cds_length": 4524,
"cdna_start": 2244,
"cdna_end": null,
"cdna_length": 7019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD5",
"gene_hgnc_id": 20444,
"hgvs_c": "c.1141T>C",
"hgvs_p": "p.Phe381Leu",
"transcript": "NM_001438859.1",
"protein_id": "NP_001425788.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 1494,
"cds_start": 1141,
"cds_end": null,
"cds_length": 4485,
"cdna_start": 2659,
"cdna_end": null,
"cdna_length": 10033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD5",
"gene_hgnc_id": 20444,
"hgvs_c": "c.1141T>C",
"hgvs_p": "p.Phe381Leu",
"transcript": "NM_001438860.1",
"protein_id": "NP_001425789.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 1494,
"cds_start": 1141,
"cds_end": null,
"cds_length": 4485,
"cdna_start": 2718,
"cdna_end": null,
"cdna_length": 10092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD5",
"gene_hgnc_id": 20444,
"hgvs_c": "c.1141T>C",
"hgvs_p": "p.Phe381Leu",
"transcript": "NM_001438861.1",
"protein_id": "NP_001425790.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 1494,
"cds_start": 1141,
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"cdna_start": 2508,
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"cdna_length": 9882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD5",
"gene_hgnc_id": 20444,
"hgvs_c": "c.1141T>C",
"hgvs_p": "p.Phe381Leu",
"transcript": "NM_001438862.1",
"protein_id": "NP_001425791.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 1494,
"cds_start": 1141,
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"cds_length": 4485,
"cdna_start": 2101,
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"cdna_length": 9475,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "MBD5",
"gene_hgnc_id": 20444,
"hgvs_c": "c.1141T>C",
"hgvs_p": "p.Phe381Leu",
"transcript": "NM_018328.5",
"protein_id": "NP_060798.2",
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"feature": null
},
{
"aa_ref": "F",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD5",
"gene_hgnc_id": 20444,
"hgvs_c": "c.358T>C",
"hgvs_p": "p.Phe120Leu",
"transcript": "ENST00000416015.2",
"protein_id": "ENSP00000393168.1",
"transcript_support_level": 5,
"aa_start": 120,
"aa_end": null,
"aa_length": 1063,
"cds_start": 358,
"cds_end": null,
"cds_length": 3192,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD5",
"gene_hgnc_id": 20444,
"hgvs_c": "c.1141T>C",
"hgvs_p": "p.Phe381Leu",
"transcript": "ENST00000627651.2",
"protein_id": "ENSP00000486370.1",
"transcript_support_level": 5,
"aa_start": 381,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD5",
"gene_hgnc_id": 20444,
"hgvs_c": "c.1141T>C",
"hgvs_p": "p.Phe381Leu",
"transcript": "XM_011511472.3",
"protein_id": "XP_011509774.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 1740,
"cds_start": 1141,
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"cdna_start": 2034,
"cdna_end": null,
"cdna_length": 10146,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "F",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD5",
"gene_hgnc_id": 20444,
"hgvs_c": "c.1141T>C",
"hgvs_p": "p.Phe381Leu",
"transcript": "XM_047445055.1",
"protein_id": "XP_047301011.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 1740,
"cds_start": 1141,
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"cdna_start": 2659,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD5",
"gene_hgnc_id": 20444,
"hgvs_c": "c.1141T>C",
"hgvs_p": "p.Phe381Leu",
"transcript": "XM_047445056.1",
"protein_id": "XP_047301012.1",
"transcript_support_level": null,
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},
{
"aa_ref": "F",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD5",
"gene_hgnc_id": 20444,
"hgvs_c": "c.1141T>C",
"hgvs_p": "p.Phe381Leu",
"transcript": "XM_047445057.1",
"protein_id": "XP_047301013.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD5",
"gene_hgnc_id": 20444,
"hgvs_c": "c.1141T>C",
"hgvs_p": "p.Phe381Leu",
"transcript": "XM_047445058.1",
"protein_id": "XP_047301014.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 1740,
"cds_start": 1141,
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"cdna_start": 29749,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MBD5",
"gene_hgnc_id": 20444,
"hgvs_c": "c.1141T>C",
"hgvs_p": "p.Phe381Leu",
"transcript": "XM_047445063.1",
"protein_id": "XP_047301019.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 1740,
"cds_start": 1141,
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"cdna_start": 2926,
"cdna_end": null,
"cdna_length": 11038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
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],
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"computational_score_selected": 0.13046926259994507,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.097,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.89,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -11,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
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"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000642680.2",
"gene_symbol": "MBD5",
"hgnc_id": 20444,
"effects": [
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],
"inheritance_mode": "AD",
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}
],
"clinvar_disease": " autosomal dominant 1,Inborn genetic diseases,Intellectual disability,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3",
"phenotype_combined": "not specified|Intellectual disability, autosomal dominant 1|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}