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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: 12-109574881-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109574881&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MVK",
"hgnc_id": 7530,
"hgvs_c": "c.59A>G",
"hgvs_p": "p.His20Arg",
"inheritance_mode": "AR,AD",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_001414512.1",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong",
"acmg_score": 10,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.9188,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.54,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9908226728439331,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 396,
"aa_ref": "H",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2833,
"cdna_start": 153,
"cds_end": null,
"cds_length": 1191,
"cds_start": 59,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_000431.4",
"gene_hgnc_id": 7530,
"gene_symbol": "MVK",
"hgvs_c": "c.59A>G",
"hgvs_p": "p.His20Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000228510.8",
"protein_coding": true,
"protein_id": "NP_000422.1",
"strand": true,
"transcript": "NM_000431.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 396,
"aa_ref": "H",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2833,
"cdna_start": 153,
"cds_end": null,
"cds_length": 1191,
"cds_start": 59,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000228510.8",
"gene_hgnc_id": 7530,
"gene_symbol": "MVK",
"hgvs_c": "c.59A>G",
"hgvs_p": "p.His20Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000431.4",
"protein_coding": true,
"protein_id": "ENSP00000228510.3",
"strand": true,
"transcript": "ENST00000228510.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 421,
"aa_ref": "H",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2908,
"cdna_start": 153,
"cds_end": null,
"cds_length": 1266,
"cds_start": 59,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001414512.1",
"gene_hgnc_id": 7530,
"gene_symbol": "MVK",
"hgvs_c": "c.59A>G",
"hgvs_p": "p.His20Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401441.1",
"strand": true,
"transcript": "NM_001414512.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 396,
"aa_ref": "H",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2824,
"cdna_start": 144,
"cds_end": null,
"cds_length": 1191,
"cds_start": 59,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001114185.3",
"gene_hgnc_id": 7530,
"gene_symbol": "MVK",
"hgvs_c": "c.59A>G",
"hgvs_p": "p.His20Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001107657.1",
"strand": true,
"transcript": "NM_001114185.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 396,
"aa_ref": "H",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2989,
"cdna_start": 309,
"cds_end": null,
"cds_length": 1191,
"cds_start": 59,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001414511.1",
"gene_hgnc_id": 7530,
"gene_symbol": "MVK",
"hgvs_c": "c.59A>G",
"hgvs_p": "p.His20Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401440.1",
"strand": true,
"transcript": "NM_001414511.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 396,
"aa_ref": "H",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2155,
"cdna_start": 365,
"cds_end": null,
"cds_length": 1191,
"cds_start": 59,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000546277.6",
"gene_hgnc_id": 7530,
"gene_symbol": "MVK",
"hgvs_c": "c.59A>G",
"hgvs_p": "p.His20Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438153.2",
"strand": true,
"transcript": "ENST00000546277.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 396,
"aa_ref": "H",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1963,
"cdna_start": 144,
"cds_end": null,
"cds_length": 1191,
"cds_start": 59,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000878306.1",
"gene_hgnc_id": 7530,
"gene_symbol": "MVK",
"hgvs_c": "c.59A>G",
"hgvs_p": "p.His20Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548365.1",
"strand": true,
"transcript": "ENST00000878306.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 396,
"aa_ref": "H",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2906,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 1191,
"cds_start": 59,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000878307.1",
"gene_hgnc_id": 7530,
"gene_symbol": "MVK",
"hgvs_c": "c.59A>G",
"hgvs_p": "p.His20Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548366.1",
"strand": true,
"transcript": "ENST00000878307.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 396,
"aa_ref": "H",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2728,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1191,
"cds_start": 59,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000878309.1",
"gene_hgnc_id": 7530,
"gene_symbol": "MVK",
"hgvs_c": "c.59A>G",
"hgvs_p": "p.His20Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548368.1",
"strand": true,
"transcript": "ENST00000878309.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 396,
"aa_ref": "H",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1943,
"cdna_start": 129,
"cds_end": null,
"cds_length": 1191,
"cds_start": 59,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000965100.1",
"gene_hgnc_id": 7530,
"gene_symbol": "MVK",
"hgvs_c": "c.59A>G",
"hgvs_p": "p.His20Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635159.1",
"strand": true,
"transcript": "ENST00000965100.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 395,
"aa_ref": "H",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1958,
"cdna_start": 141,
"cds_end": null,
"cds_length": 1188,
"cds_start": 59,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000878308.1",
"gene_hgnc_id": 7530,
"gene_symbol": "MVK",
"hgvs_c": "c.59A>G",
"hgvs_p": "p.His20Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548367.1",
"strand": true,
"transcript": "ENST00000878308.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 363,
"aa_ref": "H",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2844,
"cdna_start": 153,
"cds_end": null,
"cds_length": 1092,
"cds_start": 59,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001414513.1",
"gene_hgnc_id": 7530,
"gene_symbol": "MVK",
"hgvs_c": "c.59A>G",
"hgvs_p": "p.His20Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401442.1",
"strand": true,
"transcript": "NM_001414513.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 344,
"aa_ref": "H",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2677,
"cdna_start": 153,
"cds_end": null,
"cds_length": 1035,
"cds_start": 59,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001301182.2",
"gene_hgnc_id": 7530,
"gene_symbol": "MVK",
"hgvs_c": "c.59A>G",
"hgvs_p": "p.His20Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288111.1",
"strand": true,
"transcript": "NM_001301182.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 344,
"aa_ref": "H",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1770,
"cdna_start": 110,
"cds_end": null,
"cds_length": 1035,
"cds_start": 59,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000392727.7",
"gene_hgnc_id": 7530,
"gene_symbol": "MVK",
"hgvs_c": "c.59A>G",
"hgvs_p": "p.His20Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376487.3",
"strand": true,
"transcript": "ENST00000392727.7",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 344,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2035,
"cdna_start": 376,
"cds_end": null,
"cds_length": 1035,
"cds_start": 59,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000878305.1",
"gene_hgnc_id": 7530,
"gene_symbol": "MVK",
"hgvs_c": "c.59A>G",
"hgvs_p": "p.His20Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548364.1",
"strand": true,
"transcript": "ENST00000878305.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 344,
"aa_ref": "H",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3424,
"cdna_start": 911,
"cds_end": null,
"cds_length": 1035,
"cds_start": 59,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000920974.1",
"gene_hgnc_id": 7530,
"gene_symbol": "MVK",
"hgvs_c": "c.59A>G",
"hgvs_p": "p.His20Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591033.1",
"strand": true,
"transcript": "ENST00000920974.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 311,
"aa_ref": "H",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2688,
"cdna_start": 153,
"cds_end": null,
"cds_length": 936,
"cds_start": 59,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001414514.1",
"gene_hgnc_id": 7530,
"gene_symbol": "MVK",
"hgvs_c": "c.59A>G",
"hgvs_p": "p.His20Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001401443.1",
"strand": true,
"transcript": "NM_001414514.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 169,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 834,
"cdna_start": 381,
"cds_end": null,
"cds_length": 512,
"cds_start": 59,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000539335.5",
"gene_hgnc_id": 7530,
"gene_symbol": "MVK",
"hgvs_c": "c.59A>G",
"hgvs_p": "p.His20Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440379.1",
"strand": true,
"transcript": "ENST00000539335.5",
"transcript_support_level": 3
},
{
"aa_alt": "R",
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"aa_length": 496,
"aa_ref": "H",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3053,
"cdna_start": 373,
"cds_end": null,
"cds_length": 1491,
"cds_start": 359,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047428873.1",
"gene_hgnc_id": 7530,
"gene_symbol": "MVK",
"hgvs_c": "c.359A>G",
"hgvs_p": "p.His120Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047284829.1",
"strand": true,
"transcript": "XM_047428873.1",
"transcript_support_level": null
},
{
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"aa_ref": "H",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3635,
"cdna_start": 955,
"cds_end": null,
"cds_length": 1191,
"cds_start": 59,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017019314.2",
"gene_hgnc_id": 7530,
"gene_symbol": "MVK",
"hgvs_c": "c.59A>G",
"hgvs_p": "p.His20Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016874803.1",
"strand": true,
"transcript": "XM_017019314.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 344,
"aa_ref": "H",
"aa_start": 20,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2878,
"cdna_start": 354,
"cds_end": null,
"cds_length": 1035,
"cds_start": 59,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017019313.3",
"gene_hgnc_id": 7530,
"gene_symbol": "MVK",
"hgvs_c": "c.59A>G",
"hgvs_p": "p.His20Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016874802.1",
"strand": true,
"transcript": "XM_017019313.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
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