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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: 7-91874015-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=91874015&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 91874015,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_006980.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"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": "MTERF1",
"gene_hgnc_id": 21463,
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Arg260Pro",
"transcript": "NM_006980.5",
"protein_id": "NP_008911.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 399,
"cds_start": 779,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000351870.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006980.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "MTERF1",
"gene_hgnc_id": 21463,
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Arg260Pro",
"transcript": "ENST00000351870.8",
"protein_id": "ENSP00000248643.3",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 399,
"cds_start": 779,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006980.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351870.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "MTERF1",
"gene_hgnc_id": 21463,
"hgvs_c": "c.719G>C",
"hgvs_p": "p.Arg240Pro",
"transcript": "ENST00000419292.1",
"protein_id": "ENSP00000414116.1",
"transcript_support_level": 1,
"aa_start": 240,
"aa_end": null,
"aa_length": 379,
"cds_start": 719,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419292.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "MTERF1",
"gene_hgnc_id": 21463,
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Arg260Pro",
"transcript": "ENST00000867199.1",
"protein_id": "ENSP00000537258.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 399,
"cds_start": 779,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867199.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "MTERF1",
"gene_hgnc_id": 21463,
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Arg260Pro",
"transcript": "ENST00000867200.1",
"protein_id": "ENSP00000537259.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 399,
"cds_start": 779,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867200.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "MTERF1",
"gene_hgnc_id": 21463,
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Arg260Pro",
"transcript": "ENST00000939549.1",
"protein_id": "ENSP00000609608.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 399,
"cds_start": 779,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939549.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "MTERF1",
"gene_hgnc_id": 21463,
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Arg260Pro",
"transcript": "ENST00000939550.1",
"protein_id": "ENSP00000609609.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 399,
"cds_start": 779,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939550.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "MTERF1",
"gene_hgnc_id": 21463,
"hgvs_c": "c.719G>C",
"hgvs_p": "p.Arg240Pro",
"transcript": "NM_001301134.2",
"protein_id": "NP_001288063.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 379,
"cds_start": 719,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301134.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "MTERF1",
"gene_hgnc_id": 21463,
"hgvs_c": "c.719G>C",
"hgvs_p": "p.Arg240Pro",
"transcript": "NM_001301135.2",
"protein_id": "NP_001288064.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 379,
"cds_start": 719,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301135.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "MTERF1",
"gene_hgnc_id": 21463,
"hgvs_c": "c.719G>C",
"hgvs_p": "p.Arg240Pro",
"transcript": "ENST00000406735.6",
"protein_id": "ENSP00000384986.2",
"transcript_support_level": 2,
"aa_start": 240,
"aa_end": null,
"aa_length": 379,
"cds_start": 719,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406735.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "MTERF1",
"gene_hgnc_id": 21463,
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Arg260Pro",
"transcript": "XM_005250593.4",
"protein_id": "XP_005250650.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 399,
"cds_start": 779,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250593.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "MTERF1",
"gene_hgnc_id": 21463,
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Arg260Pro",
"transcript": "XM_006716126.4",
"protein_id": "XP_006716189.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 399,
"cds_start": 779,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006716126.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"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": "MTERF1",
"gene_hgnc_id": 21463,
"hgvs_c": "c.719G>C",
"hgvs_p": "p.Arg240Pro",
"transcript": "XM_047420839.1",
"protein_id": "XP_047276795.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 379,
"cds_start": 719,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047420839.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MTERF1",
"gene_hgnc_id": 21463,
"hgvs_c": "n.93+6040G>C",
"hgvs_p": null,
"transcript": "ENST00000454222.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000454222.5"
}
],
"gene_symbol": "MTERF1",
"gene_hgnc_id": 21463,
"dbsnp": "rs530927148",
"frequency_reference_population": 0.000012392818,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000123138,
"gnomad_genomes_af": 0.0000131525,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13008543848991394,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.124,
"revel_prediction": "Benign",
"alphamissense_score": 0.6722,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.302,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_006980.5",
"gene_symbol": "MTERF1",
"hgnc_id": 21463,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.779G>C",
"hgvs_p": "p.Arg260Pro"
}
],
"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
}