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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: 2-27309916-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27309916&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27309916,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002437.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.527T>G",
"hgvs_p": "p.Leu176Arg",
"transcript": "NM_002437.5",
"protein_id": "NP_002428.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 176,
"cds_start": 527,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380044.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002437.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.527T>G",
"hgvs_p": "p.Leu176Arg",
"transcript": "ENST00000380044.6",
"protein_id": "ENSP00000369383.1",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 176,
"cds_start": 527,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002437.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380044.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.527T>G",
"hgvs_p": "p.Leu176Arg",
"transcript": "ENST00000233545.6",
"protein_id": "ENSP00000233545.2",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 176,
"cds_start": 527,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233545.6"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.677T>G",
"hgvs_p": "p.Leu226Arg",
"transcript": "ENST00000911060.1",
"protein_id": "ENSP00000581119.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 226,
"cds_start": 677,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911060.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.596T>G",
"hgvs_p": "p.Leu199Arg",
"transcript": "ENST00000931184.1",
"protein_id": "ENSP00000601243.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 199,
"cds_start": 596,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931184.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.572T>G",
"hgvs_p": "p.Leu191Arg",
"transcript": "ENST00000405983.5",
"protein_id": "ENSP00000384586.1",
"transcript_support_level": 5,
"aa_start": 191,
"aa_end": null,
"aa_length": 191,
"cds_start": 572,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405983.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.572T>G",
"hgvs_p": "p.Leu191Arg",
"transcript": "ENST00000931185.1",
"protein_id": "ENSP00000601244.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 191,
"cds_start": 572,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931185.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.527T>G",
"hgvs_p": "p.Leu176Arg",
"transcript": "ENST00000911063.1",
"protein_id": "ENSP00000581122.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 176,
"cds_start": 527,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911063.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.527T>G",
"hgvs_p": "p.Leu176Arg",
"transcript": "ENST00000931181.1",
"protein_id": "ENSP00000601240.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 176,
"cds_start": 527,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931181.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.527T>G",
"hgvs_p": "p.Leu176Arg",
"transcript": "ENST00000931186.1",
"protein_id": "ENSP00000601245.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 176,
"cds_start": 527,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931186.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.524T>G",
"hgvs_p": "p.Leu175Arg",
"transcript": "ENST00000931180.1",
"protein_id": "ENSP00000601239.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 175,
"cds_start": 524,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931180.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.524T>G",
"hgvs_p": "p.Leu175Arg",
"transcript": "ENST00000949905.1",
"protein_id": "ENSP00000619964.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 175,
"cds_start": 524,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949905.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.494T>G",
"hgvs_p": "p.Leu165Arg",
"transcript": "ENST00000911062.1",
"protein_id": "ENSP00000581121.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 165,
"cds_start": 494,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911062.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.494T>G",
"hgvs_p": "p.Leu165Arg",
"transcript": "ENST00000931183.1",
"protein_id": "ENSP00000601242.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 165,
"cds_start": 494,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931183.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.473T>G",
"hgvs_p": "p.Leu158Arg",
"transcript": "ENST00000911061.1",
"protein_id": "ENSP00000581120.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 158,
"cds_start": 473,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911061.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.455T>G",
"hgvs_p": "p.Leu152Arg",
"transcript": "ENST00000949903.1",
"protein_id": "ENSP00000619962.1",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 152,
"cds_start": 455,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949903.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.440T>G",
"hgvs_p": "p.Leu147Arg",
"transcript": "ENST00000931182.1",
"protein_id": "ENSP00000601241.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 147,
"cds_start": 440,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931182.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.359T>G",
"hgvs_p": "p.Leu120Arg",
"transcript": "ENST00000357186.10",
"protein_id": "ENSP00000349713.6",
"transcript_support_level": 2,
"aa_start": 120,
"aa_end": null,
"aa_length": 120,
"cds_start": 359,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357186.10"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.359T>G",
"hgvs_p": "p.Leu120Arg",
"transcript": "ENST00000430991.5",
"protein_id": "ENSP00000406441.1",
"transcript_support_level": 5,
"aa_start": 120,
"aa_end": null,
"aa_length": 120,
"cds_start": 359,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430991.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.338T>G",
"hgvs_p": "p.Leu113Arg",
"transcript": "ENST00000405076.5",
"protein_id": "ENSP00000385175.1",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 113,
"cds_start": 338,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405076.5"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.338T>G",
"hgvs_p": "p.Leu113Arg",
"transcript": "ENST00000949904.1",
"protein_id": "ENSP00000619963.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 113,
"cds_start": 338,
"cds_end": null,
"cds_length": 342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949904.1"
},
{
"aa_ref": "L",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.527T>G",
"hgvs_p": "p.Leu176Arg",
"transcript": "XM_005264326.5",
"protein_id": "XP_005264383.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 176,
"cds_start": 527,
"cds_end": null,
"cds_length": 531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264326.5"
},
{
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_exomes_homalt": null,
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"computational_score_selected": 0.13392573595046997,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.356,
"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": -0.09,
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 4,
"criteria": [
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"PM2",
"BP4_Moderate"
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"verdict": "Uncertain_significance",
"transcript": "NM_002437.5",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}