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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: 8-96250940-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=96250940&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 96250940,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_015942.5",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF3",
"gene_hgnc_id": 24258,
"hgvs_c": "c.643A>T",
"hgvs_p": "p.Ile215Phe",
"transcript": "NM_015942.5",
"protein_id": "NP_057026.3",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 417,
"cds_start": 643,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000287025.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015942.5"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF3",
"gene_hgnc_id": 24258,
"hgvs_c": "c.643A>T",
"hgvs_p": "p.Ile215Phe",
"transcript": "ENST00000287025.4",
"protein_id": "ENSP00000287025.3",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 417,
"cds_start": 643,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015942.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287025.4"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF3",
"gene_hgnc_id": 24258,
"hgvs_c": "c.643A>T",
"hgvs_p": "p.Ile215Phe",
"transcript": "ENST00000523821.5",
"protein_id": "ENSP00000429400.1",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 361,
"cds_start": 643,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523821.5"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF3",
"gene_hgnc_id": 24258,
"hgvs_c": "c.685A>T",
"hgvs_p": "p.Ile229Phe",
"transcript": "ENST00000903462.1",
"protein_id": "ENSP00000573521.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 431,
"cds_start": 685,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903462.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF3",
"gene_hgnc_id": 24258,
"hgvs_c": "c.685A>T",
"hgvs_p": "p.Ile229Phe",
"transcript": "ENST00000912663.1",
"protein_id": "ENSP00000582722.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 431,
"cds_start": 685,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912663.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF3",
"gene_hgnc_id": 24258,
"hgvs_c": "c.685A>T",
"hgvs_p": "p.Ile229Phe",
"transcript": "ENST00000912665.1",
"protein_id": "ENSP00000582724.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 431,
"cds_start": 685,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912665.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF3",
"gene_hgnc_id": 24258,
"hgvs_c": "c.643A>T",
"hgvs_p": "p.Ile215Phe",
"transcript": "ENST00000903459.1",
"protein_id": "ENSP00000573518.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 417,
"cds_start": 643,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903459.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF3",
"gene_hgnc_id": 24258,
"hgvs_c": "c.643A>T",
"hgvs_p": "p.Ile215Phe",
"transcript": "ENST00000903460.1",
"protein_id": "ENSP00000573519.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 417,
"cds_start": 643,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903460.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF3",
"gene_hgnc_id": 24258,
"hgvs_c": "c.643A>T",
"hgvs_p": "p.Ile215Phe",
"transcript": "ENST00000903463.1",
"protein_id": "ENSP00000573522.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 417,
"cds_start": 643,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903463.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF3",
"gene_hgnc_id": 24258,
"hgvs_c": "c.643A>T",
"hgvs_p": "p.Ile215Phe",
"transcript": "ENST00000912664.1",
"protein_id": "ENSP00000582723.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 417,
"cds_start": 643,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912664.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF3",
"gene_hgnc_id": 24258,
"hgvs_c": "c.643A>T",
"hgvs_p": "p.Ile215Phe",
"transcript": "ENST00000912666.1",
"protein_id": "ENSP00000582725.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 417,
"cds_start": 643,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912666.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF3",
"gene_hgnc_id": 24258,
"hgvs_c": "c.643A>T",
"hgvs_p": "p.Ile215Phe",
"transcript": "ENST00000956101.1",
"protein_id": "ENSP00000626160.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 417,
"cds_start": 643,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956101.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF3",
"gene_hgnc_id": 24258,
"hgvs_c": "c.643A>T",
"hgvs_p": "p.Ile215Phe",
"transcript": "ENST00000956102.1",
"protein_id": "ENSP00000626161.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 417,
"cds_start": 643,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956102.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF3",
"gene_hgnc_id": 24258,
"hgvs_c": "c.541A>T",
"hgvs_p": "p.Ile181Phe",
"transcript": "ENST00000903461.1",
"protein_id": "ENSP00000573520.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 383,
"cds_start": 541,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903461.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"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": "MTERF3",
"gene_hgnc_id": 24258,
"hgvs_c": "c.643A>T",
"hgvs_p": "p.Ile215Phe",
"transcript": "ENST00000524341.6",
"protein_id": "ENSP00000429267.2",
"transcript_support_level": 3,
"aa_start": 215,
"aa_end": null,
"aa_length": 363,
"cds_start": 643,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524341.6"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF3",
"gene_hgnc_id": 24258,
"hgvs_c": "c.643A>T",
"hgvs_p": "p.Ile215Phe",
"transcript": "NM_001286643.1",
"protein_id": "NP_001273572.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 361,
"cds_start": 643,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286643.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF3",
"gene_hgnc_id": 24258,
"hgvs_c": "c.73A>T",
"hgvs_p": "p.Ile25Phe",
"transcript": "NM_001362964.1",
"protein_id": "NP_001349893.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 227,
"cds_start": 73,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001362964.1"
},
{
"aa_ref": "I",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF3",
"gene_hgnc_id": 24258,
"hgvs_c": "c.304A>T",
"hgvs_p": "p.Ile102Phe",
"transcript": "XM_011517054.3",
"protein_id": "XP_011515356.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 304,
"cds_start": 304,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517054.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTERF3",
"gene_hgnc_id": 24258,
"hgvs_c": "n.470A>T",
"hgvs_p": null,
"transcript": "ENST00000522822.6",
"protein_id": null,
"transcript_support_level": null,
"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": "retained_intron",
"feature": "ENST00000522822.6"
}
],
"gene_symbol": "MTERF3",
"gene_hgnc_id": 24258,
"dbsnp": "rs749363533",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.829602062702179,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.27,
"revel_prediction": "Benign",
"alphamissense_score": 0.3049,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.715,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015942.5",
"gene_symbol": "MTERF3",
"hgnc_id": 24258,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.643A>T",
"hgvs_p": "p.Ile215Phe"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}