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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: 3-179368062-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=179368062&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 179368062,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033540.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN1",
"gene_hgnc_id": 18262,
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Ala312Ser",
"transcript": "NM_033540.3",
"protein_id": "NP_284941.2",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 741,
"cds_start": 934,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000471841.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033540.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN1",
"gene_hgnc_id": 18262,
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Ala312Ser",
"transcript": "ENST00000471841.6",
"protein_id": "ENSP00000420617.1",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 741,
"cds_start": 934,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033540.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000471841.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN1",
"gene_hgnc_id": 18262,
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Ala312Ser",
"transcript": "ENST00000263969.9",
"protein_id": "ENSP00000263969.5",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 741,
"cds_start": 934,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263969.9"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN1",
"gene_hgnc_id": 18262,
"hgvs_c": "c.523G>T",
"hgvs_p": "p.Ala175Ser",
"transcript": "ENST00000474903.1",
"protein_id": "ENSP00000419926.1",
"transcript_support_level": 1,
"aa_start": 175,
"aa_end": null,
"aa_length": 493,
"cds_start": 523,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474903.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN1",
"gene_hgnc_id": 18262,
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Ala312Ser",
"transcript": "ENST00000897667.1",
"protein_id": "ENSP00000567726.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 741,
"cds_start": 934,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897667.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN1",
"gene_hgnc_id": 18262,
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Ala312Ser",
"transcript": "ENST00000897668.1",
"protein_id": "ENSP00000567727.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 741,
"cds_start": 934,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897668.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN1",
"gene_hgnc_id": 18262,
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Ala312Ser",
"transcript": "ENST00000897670.1",
"protein_id": "ENSP00000567729.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 741,
"cds_start": 934,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897670.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN1",
"gene_hgnc_id": 18262,
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Ala312Ser",
"transcript": "ENST00000897671.1",
"protein_id": "ENSP00000567730.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 741,
"cds_start": 934,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897671.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN1",
"gene_hgnc_id": 18262,
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Ala312Ser",
"transcript": "ENST00000931925.1",
"protein_id": "ENSP00000601984.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 741,
"cds_start": 934,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931925.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN1",
"gene_hgnc_id": 18262,
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Ala312Ser",
"transcript": "ENST00000969612.1",
"protein_id": "ENSP00000639671.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 741,
"cds_start": 934,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969612.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN1",
"gene_hgnc_id": 18262,
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Ala312Ser",
"transcript": "ENST00000969614.1",
"protein_id": "ENSP00000639673.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 741,
"cds_start": 934,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969614.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN1",
"gene_hgnc_id": 18262,
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Ala312Ser",
"transcript": "ENST00000969617.1",
"protein_id": "ENSP00000639676.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 741,
"cds_start": 934,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969617.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN1",
"gene_hgnc_id": 18262,
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Ala312Ser",
"transcript": "ENST00000969618.1",
"protein_id": "ENSP00000639677.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 741,
"cds_start": 934,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969618.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN1",
"gene_hgnc_id": 18262,
"hgvs_c": "c.928G>T",
"hgvs_p": "p.Ala310Ser",
"transcript": "ENST00000931926.1",
"protein_id": "ENSP00000601985.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 739,
"cds_start": 928,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931926.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN1",
"gene_hgnc_id": 18262,
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Ala312Ser",
"transcript": "ENST00000969616.1",
"protein_id": "ENSP00000639675.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 696,
"cds_start": 934,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969616.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN1",
"gene_hgnc_id": 18262,
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Ala312Ser",
"transcript": "ENST00000969619.1",
"protein_id": "ENSP00000639678.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 658,
"cds_start": 934,
"cds_end": null,
"cds_length": 1977,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969619.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "MFN1",
"gene_hgnc_id": 18262,
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Ala312Ser",
"transcript": "ENST00000969613.1",
"protein_id": "ENSP00000639672.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 623,
"cds_start": 934,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969613.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "MFN1",
"gene_hgnc_id": 18262,
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Ala312Ser",
"transcript": "ENST00000897669.1",
"protein_id": "ENSP00000567728.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 595,
"cds_start": 934,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897669.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"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": "MFN1",
"gene_hgnc_id": 18262,
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Ala312Ser",
"transcript": "ENST00000969615.1",
"protein_id": "ENSP00000639674.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 595,
"cds_start": 934,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969615.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN1",
"gene_hgnc_id": 18262,
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Ala312Ser",
"transcript": "XM_005247596.5",
"protein_id": "XP_005247653.2",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 741,
"cds_start": 934,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005247596.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN1",
"gene_hgnc_id": 18262,
"hgvs_c": "c.493G>T",
"hgvs_p": "p.Ala165Ser",
"transcript": "XM_011512963.4",
"protein_id": "XP_011511265.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 594,
"cds_start": 493,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512963.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MFN1",
"gene_hgnc_id": 18262,
"hgvs_c": "n.934G>T",
"hgvs_p": null,
"transcript": "ENST00000357390.8",
"protein_id": "ENSP00000349963.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000357390.8"
}
],
"gene_symbol": "MFN1",
"gene_hgnc_id": 18262,
"dbsnp": "rs151151919",
"frequency_reference_population": 0.000072509676,
"hom_count_reference_population": 0,
"allele_count_reference_population": 114,
"gnomad_exomes_af": 0.0000774493,
"gnomad_genomes_af": 0.0000263296,
"gnomad_exomes_ac": 110,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1089296042919159,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.24,
"revel_prediction": "Benign",
"alphamissense_score": 0.077,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.714,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033540.3",
"gene_symbol": "MFN1",
"hgnc_id": 18262,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.934G>T",
"hgvs_p": "p.Ala312Ser"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}