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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: 15-65003120-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=65003120&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 65003120,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_139242.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFMT",
"gene_hgnc_id": 29666,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Arg371Ile",
"transcript": "NM_139242.4",
"protein_id": "NP_640335.2",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 389,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000220058.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139242.4"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFMT",
"gene_hgnc_id": 29666,
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Arg371Ile",
"transcript": "ENST00000220058.9",
"protein_id": "ENSP00000220058.4",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 389,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_139242.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000220058.9"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFMT",
"gene_hgnc_id": 29666,
"hgvs_c": "c.1379G>T",
"hgvs_p": "p.Arg460Ile",
"transcript": "ENST00000901062.1",
"protein_id": "ENSP00000571121.1",
"transcript_support_level": null,
"aa_start": 460,
"aa_end": null,
"aa_length": 478,
"cds_start": 1379,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901062.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFMT",
"gene_hgnc_id": 29666,
"hgvs_c": "c.1265G>T",
"hgvs_p": "p.Arg422Ile",
"transcript": "ENST00000901059.1",
"protein_id": "ENSP00000571118.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 440,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901059.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFMT",
"gene_hgnc_id": 29666,
"hgvs_c": "c.1250G>T",
"hgvs_p": "p.Arg417Ile",
"transcript": "ENST00000901063.1",
"protein_id": "ENSP00000571122.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 435,
"cds_start": 1250,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901063.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFMT",
"gene_hgnc_id": 29666,
"hgvs_c": "c.1241G>T",
"hgvs_p": "p.Arg414Ile",
"transcript": "ENST00000965373.1",
"protein_id": "ENSP00000635432.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 432,
"cds_start": 1241,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965373.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFMT",
"gene_hgnc_id": 29666,
"hgvs_c": "c.1226G>T",
"hgvs_p": "p.Arg409Ile",
"transcript": "ENST00000965374.1",
"protein_id": "ENSP00000635433.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 427,
"cds_start": 1226,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965374.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFMT",
"gene_hgnc_id": 29666,
"hgvs_c": "c.1097G>T",
"hgvs_p": "p.Arg366Ile",
"transcript": "ENST00000901060.1",
"protein_id": "ENSP00000571119.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 384,
"cds_start": 1097,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901060.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFMT",
"gene_hgnc_id": 29666,
"hgvs_c": "c.1088G>T",
"hgvs_p": "p.Arg363Ile",
"transcript": "ENST00000901061.1",
"protein_id": "ENSP00000571120.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 381,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901061.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFMT",
"gene_hgnc_id": 29666,
"hgvs_c": "c.1073G>T",
"hgvs_p": "p.Arg358Ile",
"transcript": "ENST00000901067.1",
"protein_id": "ENSP00000571126.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 376,
"cds_start": 1073,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901067.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFMT",
"gene_hgnc_id": 29666,
"hgvs_c": "c.1055G>T",
"hgvs_p": "p.Arg352Ile",
"transcript": "ENST00000917318.1",
"protein_id": "ENSP00000587377.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 370,
"cds_start": 1055,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917318.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFMT",
"gene_hgnc_id": 29666,
"hgvs_c": "c.941G>T",
"hgvs_p": "p.Arg314Ile",
"transcript": "ENST00000901066.1",
"protein_id": "ENSP00000571125.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 332,
"cds_start": 941,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901066.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFMT",
"gene_hgnc_id": 29666,
"hgvs_c": "c.902G>T",
"hgvs_p": "p.Arg301Ile",
"transcript": "ENST00000901065.1",
"protein_id": "ENSP00000571124.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 319,
"cds_start": 902,
"cds_end": null,
"cds_length": 960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901065.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFMT",
"gene_hgnc_id": 29666,
"hgvs_c": "c.713G>T",
"hgvs_p": "p.Arg238Ile",
"transcript": "ENST00000901064.1",
"protein_id": "ENSP00000571123.1",
"transcript_support_level": null,
"aa_start": 238,
"aa_end": null,
"aa_length": 256,
"cds_start": 713,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901064.1"
},
{
"aa_ref": "R",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFMT",
"gene_hgnc_id": 29666,
"hgvs_c": "c.1265G>T",
"hgvs_p": "p.Arg422Ile",
"transcript": "XM_005254158.6",
"protein_id": "XP_005254215.2",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 440,
"cds_start": 1265,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005254158.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFMT",
"gene_hgnc_id": 29666,
"hgvs_c": "n.1112G>T",
"hgvs_p": null,
"transcript": "ENST00000558460.5",
"protein_id": "ENSP00000452646.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000558460.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFMT",
"gene_hgnc_id": 29666,
"hgvs_c": "n.*582G>T",
"hgvs_p": null,
"transcript": "ENST00000560717.5",
"protein_id": "ENSP00000457257.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000560717.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFMT",
"gene_hgnc_id": 29666,
"hgvs_c": "n.*582G>T",
"hgvs_p": null,
"transcript": "ENST00000560717.5",
"protein_id": "ENSP00000457257.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000560717.5"
}
],
"gene_symbol": "MTFMT",
"gene_hgnc_id": 29666,
"dbsnp": "rs771526888",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 6.84753e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3362046480178833,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.219,
"revel_prediction": "Benign",
"alphamissense_score": 0.0988,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.389,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_139242.4",
"gene_symbol": "MTFMT",
"hgnc_id": 29666,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1112G>T",
"hgvs_p": "p.Arg371Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}