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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: 2-27312576-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27312576&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27312576,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002437.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Pro98Leu",
"transcript": "NM_002437.5",
"protein_id": "NP_002428.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 176,
"cds_start": 293,
"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": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Pro98Leu",
"transcript": "ENST00000380044.6",
"protein_id": "ENSP00000369383.1",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 176,
"cds_start": 293,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Pro98Leu",
"transcript": "ENST00000233545.6",
"protein_id": "ENSP00000233545.2",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 176,
"cds_start": 293,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Pro98Leu",
"transcript": "ENST00000403262.6",
"protein_id": "ENSP00000385671.1",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 171,
"cds_start": 293,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403262.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.443C>T",
"hgvs_p": "p.Pro148Leu",
"transcript": "ENST00000911060.1",
"protein_id": "ENSP00000581119.1",
"transcript_support_level": null,
"aa_start": 148,
"aa_end": null,
"aa_length": 226,
"cds_start": 443,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.362C>T",
"hgvs_p": "p.Pro121Leu",
"transcript": "ENST00000931184.1",
"protein_id": "ENSP00000601243.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 199,
"cds_start": 362,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000405983.5",
"protein_id": "ENSP00000384586.1",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 191,
"cds_start": 338,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.338C>T",
"hgvs_p": "p.Pro113Leu",
"transcript": "ENST00000931185.1",
"protein_id": "ENSP00000601244.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 191,
"cds_start": 338,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Pro98Leu",
"transcript": "ENST00000911063.1",
"protein_id": "ENSP00000581122.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 176,
"cds_start": 293,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Pro98Leu",
"transcript": "ENST00000931181.1",
"protein_id": "ENSP00000601240.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 176,
"cds_start": 293,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Pro98Leu",
"transcript": "ENST00000931186.1",
"protein_id": "ENSP00000601245.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 176,
"cds_start": 293,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.290C>T",
"hgvs_p": "p.Pro97Leu",
"transcript": "ENST00000931180.1",
"protein_id": "ENSP00000601239.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 175,
"cds_start": 290,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.290C>T",
"hgvs_p": "p.Pro97Leu",
"transcript": "ENST00000949905.1",
"protein_id": "ENSP00000619964.1",
"transcript_support_level": null,
"aa_start": 97,
"aa_end": null,
"aa_length": 175,
"cds_start": 290,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Pro98Leu",
"transcript": "ENST00000402310.5",
"protein_id": "ENSP00000383955.1",
"transcript_support_level": 5,
"aa_start": 98,
"aa_end": null,
"aa_length": 170,
"cds_start": 293,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402310.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Pro98Leu",
"transcript": "ENST00000911062.1",
"protein_id": "ENSP00000581121.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 165,
"cds_start": 293,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Pro98Leu",
"transcript": "ENST00000931183.1",
"protein_id": "ENSP00000601242.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 165,
"cds_start": 293,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Pro98Leu",
"transcript": "ENST00000911061.1",
"protein_id": "ENSP00000581120.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 158,
"cds_start": 293,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.221C>T",
"hgvs_p": "p.Pro74Leu",
"transcript": "ENST00000949903.1",
"protein_id": "ENSP00000619962.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 152,
"cds_start": 221,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Pro98Leu",
"transcript": "ENST00000931182.1",
"protein_id": "ENSP00000601241.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 147,
"cds_start": 293,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000357186.10",
"protein_id": "ENSP00000349713.6",
"transcript_support_level": 2,
"aa_start": 42,
"aa_end": null,
"aa_length": 120,
"cds_start": 125,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.215C>T",
"hgvs_p": "p.Pro72Leu",
"transcript": "ENST00000428910.5",
"protein_id": "ENSP00000405235.1",
"transcript_support_level": 5,
"aa_start": 72,
"aa_end": null,
"aa_length": 114,
"cds_start": 215,
"cds_end": null,
"cds_length": 347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428910.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPV17",
"gene_hgnc_id": 7224,
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Pro98Leu",
"transcript": "XM_005264326.5",
"protein_id": "XP_005264383.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 176,
"cds_start": 293,
"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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],
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"dbsnp": "rs267607258",
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"gnomad_exomes_af": 0.0000636209,
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"gnomad_exomes_ac": 93,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.9664414525032043,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.914,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.6878,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.451,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PM1",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_002437.5",
"gene_symbol": "MPV17",
"hgnc_id": 7224,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.293C>T",
"hgvs_p": "p.Pro98Leu"
}
],
"clinvar_disease": " axonal, type 2EE,Charcot-Marie-Tooth disease,MPV17-related disorder,Mitochondrial DNA depletion syndrome,Mitochondrial DNA depletion syndrome 6 (hepatocerebral type),not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:12 O:1",
"phenotype_combined": "Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)|not provided|Charcot-Marie-Tooth disease, axonal, type 2EE|MPV17-related disorder|Charcot-Marie-Tooth disease, axonal, type 2EE;Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)|Mitochondrial DNA depletion syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}