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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: 12-106978111-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=106978111&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 106978111,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_025198.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF2",
"gene_hgnc_id": 30779,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Glu202Lys",
"transcript": "NM_001033050.3",
"protein_id": "NP_001028222.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 385,
"cds_start": 604,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000240050.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001033050.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF2",
"gene_hgnc_id": 30779,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Glu202Lys",
"transcript": "ENST00000240050.9",
"protein_id": "ENSP00000240050.4",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 385,
"cds_start": 604,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001033050.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000240050.9"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF2",
"gene_hgnc_id": 30779,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Glu202Lys",
"transcript": "ENST00000392830.6",
"protein_id": "ENSP00000376575.2",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 385,
"cds_start": 604,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392830.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF2",
"gene_hgnc_id": 30779,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Glu202Lys",
"transcript": "ENST00000552029.1",
"protein_id": "ENSP00000447651.1",
"transcript_support_level": 1,
"aa_start": 202,
"aa_end": null,
"aa_length": 385,
"cds_start": 604,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552029.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF2",
"gene_hgnc_id": 30779,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Glu202Lys",
"transcript": "NM_025198.5",
"protein_id": "NP_079474.2",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 385,
"cds_start": 604,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025198.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF2",
"gene_hgnc_id": 30779,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Glu202Lys",
"transcript": "ENST00000713581.1",
"protein_id": "ENSP00000518873.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 385,
"cds_start": 604,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713581.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF2",
"gene_hgnc_id": 30779,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Glu202Lys",
"transcript": "ENST00000853544.1",
"protein_id": "ENSP00000523603.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 385,
"cds_start": 604,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853544.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF2",
"gene_hgnc_id": 30779,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Glu202Lys",
"transcript": "ENST00000853545.1",
"protein_id": "ENSP00000523604.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 385,
"cds_start": 604,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853545.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF2",
"gene_hgnc_id": 30779,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Glu202Lys",
"transcript": "ENST00000853546.1",
"protein_id": "ENSP00000523605.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 385,
"cds_start": 604,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853546.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF2",
"gene_hgnc_id": 30779,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Glu202Lys",
"transcript": "ENST00000853547.1",
"protein_id": "ENSP00000523606.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 385,
"cds_start": 604,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853547.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF2",
"gene_hgnc_id": 30779,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Glu202Lys",
"transcript": "ENST00000924790.1",
"protein_id": "ENSP00000594849.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 385,
"cds_start": 604,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924790.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF2",
"gene_hgnc_id": 30779,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Glu202Lys",
"transcript": "ENST00000924791.1",
"protein_id": "ENSP00000594850.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 385,
"cds_start": 604,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924791.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF2",
"gene_hgnc_id": 30779,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Glu202Lys",
"transcript": "ENST00000924792.1",
"protein_id": "ENSP00000594851.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 385,
"cds_start": 604,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924792.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF2",
"gene_hgnc_id": 30779,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Glu202Lys",
"transcript": "XM_011538767.3",
"protein_id": "XP_011537069.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 385,
"cds_start": 604,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538767.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF2",
"gene_hgnc_id": 30779,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Glu202Lys",
"transcript": "XM_017019985.3",
"protein_id": "XP_016875474.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 385,
"cds_start": 604,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019985.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF2",
"gene_hgnc_id": 30779,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Glu202Lys",
"transcript": "XM_017019986.2",
"protein_id": "XP_016875475.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 385,
"cds_start": 604,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019986.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF2",
"gene_hgnc_id": 30779,
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Glu202Lys",
"transcript": "XM_017019987.2",
"protein_id": "XP_016875476.1",
"transcript_support_level": null,
"aa_start": 202,
"aa_end": null,
"aa_length": 385,
"cds_start": 604,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019987.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "n.216-239C>T",
"hgvs_p": null,
"transcript": "ENST00000548806.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000548806.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM263",
"gene_hgnc_id": 28281,
"hgvs_c": "n.388-239C>T",
"hgvs_p": null,
"transcript": "ENST00000551237.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000551237.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF2",
"gene_hgnc_id": 30779,
"hgvs_c": "c.*68G>A",
"hgvs_p": null,
"transcript": "ENST00000548101.1",
"protein_id": "ENSP00000448343.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 177,
"cds_start": null,
"cds_end": null,
"cds_length": 536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548101.1"
}
],
"gene_symbol": "MTERF2",
"gene_hgnc_id": 30779,
"dbsnp": "rs567519895",
"frequency_reference_population": 0.0001691366,
"hom_count_reference_population": 1,
"allele_count_reference_population": 273,
"gnomad_exomes_af": 0.000171705,
"gnomad_genomes_af": 0.000144478,
"gnomad_exomes_ac": 251,
"gnomad_genomes_ac": 22,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.02963516116142273,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.087,
"revel_prediction": "Benign",
"alphamissense_score": 0.0745,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.622,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_025198.5",
"gene_symbol": "MTERF2",
"hgnc_id": 30779,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.604G>A",
"hgvs_p": "p.Glu202Lys"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000548806.1",
"gene_symbol": "TMEM263",
"hgnc_id": 28281,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.216-239C>T",
"hgvs_p": null
}
],
"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
}