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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: 12-109590802-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109590802&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109590802,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001414512.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Thr237Ala",
"transcript": "NM_000431.4",
"protein_id": "NP_000422.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 396,
"cds_start": 709,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000228510.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000431.4"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Thr237Ala",
"transcript": "ENST00000228510.8",
"protein_id": "ENSP00000228510.3",
"transcript_support_level": 1,
"aa_start": 237,
"aa_end": null,
"aa_length": 396,
"cds_start": 709,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000431.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228510.8"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.784A>G",
"hgvs_p": "p.Thr262Ala",
"transcript": "NM_001414512.1",
"protein_id": "NP_001401441.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 421,
"cds_start": 784,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414512.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Thr237Ala",
"transcript": "NM_001114185.3",
"protein_id": "NP_001107657.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 396,
"cds_start": 709,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001114185.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Thr237Ala",
"transcript": "NM_001414511.1",
"protein_id": "NP_001401440.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 396,
"cds_start": 709,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414511.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Thr237Ala",
"transcript": "ENST00000546277.6",
"protein_id": "ENSP00000438153.2",
"transcript_support_level": 5,
"aa_start": 237,
"aa_end": null,
"aa_length": 396,
"cds_start": 709,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546277.6"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Thr237Ala",
"transcript": "ENST00000878306.1",
"protein_id": "ENSP00000548365.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 396,
"cds_start": 709,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878306.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Thr237Ala",
"transcript": "ENST00000878307.1",
"protein_id": "ENSP00000548366.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 396,
"cds_start": 709,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878307.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Thr237Ala",
"transcript": "ENST00000878309.1",
"protein_id": "ENSP00000548368.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 396,
"cds_start": 709,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878309.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Thr237Ala",
"transcript": "ENST00000965100.1",
"protein_id": "ENSP00000635159.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 396,
"cds_start": 709,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965100.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Thr237Ala",
"transcript": "ENST00000878308.1",
"protein_id": "ENSP00000548367.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 395,
"cds_start": 709,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878308.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Thr237Ala",
"transcript": "NM_001414513.1",
"protein_id": "NP_001401442.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 363,
"cds_start": 709,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414513.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.556A>G",
"hgvs_p": "p.Thr186Ala",
"transcript": "ENST00000636996.1",
"protein_id": "ENSP00000490869.1",
"transcript_support_level": 5,
"aa_start": 186,
"aa_end": null,
"aa_length": 345,
"cds_start": 556,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636996.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.553A>G",
"hgvs_p": "p.Thr185Ala",
"transcript": "NM_001301182.2",
"protein_id": "NP_001288111.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 344,
"cds_start": 553,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301182.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.553A>G",
"hgvs_p": "p.Thr185Ala",
"transcript": "ENST00000392727.7",
"protein_id": "ENSP00000376487.3",
"transcript_support_level": 2,
"aa_start": 185,
"aa_end": null,
"aa_length": 344,
"cds_start": 553,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392727.7"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.553A>G",
"hgvs_p": "p.Thr185Ala",
"transcript": "ENST00000878305.1",
"protein_id": "ENSP00000548364.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 344,
"cds_start": 553,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878305.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.553A>G",
"hgvs_p": "p.Thr185Ala",
"transcript": "ENST00000920974.1",
"protein_id": "ENSP00000591033.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 344,
"cds_start": 553,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920974.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.553A>G",
"hgvs_p": "p.Thr185Ala",
"transcript": "NM_001414514.1",
"protein_id": "NP_001401443.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 311,
"cds_start": 553,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414514.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.127A>G",
"hgvs_p": "p.Thr43Ala",
"transcript": "NM_001414515.1",
"protein_id": "NP_001401444.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 202,
"cds_start": 127,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414515.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.1009A>G",
"hgvs_p": "p.Thr337Ala",
"transcript": "XM_047428873.1",
"protein_id": "XP_047284829.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 496,
"cds_start": 1009,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428873.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.709A>G",
"hgvs_p": "p.Thr237Ala",
"transcript": "XM_017019314.2",
"protein_id": "XP_016874803.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 396,
"cds_start": 709,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019314.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MVK",
"gene_hgnc_id": 7530,
"hgvs_c": "c.553A>G",
"hgvs_p": "p.Thr185Ala",
"transcript": "XM_017019313.3",
"protein_id": "XP_016874802.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 344,
"cds_start": 553,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019313.3"
},
{
"aa_ref": null,
"aa_alt": null,
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],
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"frequency_reference_population": 6.840507e-7,
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"gnomad_exomes_af": 6.84051e-7,
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"gnomad_exomes_ac": 1,
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"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.942,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6419,
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"bayesdelnoaf_score": 0.57,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.638,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
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"PM5",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001414512.1",
"gene_symbol": "MVK",
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"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.784A>G",
"hgvs_p": "p.Thr262Ala"
}
],
"clinvar_disease": " disseminated superficial actinic type,Hyperimmunoglobulin D with periodic fever,Mevalonic aciduria,Porokeratosis 3",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hyperimmunoglobulin D with periodic fever;Mevalonic aciduria;Porokeratosis 3, disseminated superficial actinic type",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}