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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: 15-65003130-GAA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=65003130&ref=GAA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1_Moderate",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "MTFMT",
"hgnc_id": 29666,
"hgvs_c": "c.1100_1101delTT",
"hgvs_p": "p.Phe367fs",
"inheritance_mode": "AR",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_139242.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1_Moderate,PM2,PP5_Very_Strong",
"acmg_score": 12,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "15",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Mitochondrial oxidative phosphorylation disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 389,
"aa_ref": "F",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2746,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 1170,
"cds_start": 1100,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_139242.4",
"gene_hgnc_id": 29666,
"gene_symbol": "MTFMT",
"hgvs_c": "c.1100_1101delTT",
"hgvs_p": "p.Phe367fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000220058.9",
"protein_coding": true,
"protein_id": "NP_640335.2",
"strand": false,
"transcript": "NM_139242.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 389,
"aa_ref": "F",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2746,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 1170,
"cds_start": 1100,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000220058.9",
"gene_hgnc_id": 29666,
"gene_symbol": "MTFMT",
"hgvs_c": "c.1100_1101delTT",
"hgvs_p": "p.Phe367fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_139242.4",
"protein_coding": true,
"protein_id": "ENSP00000220058.4",
"strand": false,
"transcript": "ENST00000220058.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 478,
"aa_ref": "F",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2015,
"cdna_start": 1394,
"cds_end": null,
"cds_length": 1437,
"cds_start": 1367,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000901062.1",
"gene_hgnc_id": 29666,
"gene_symbol": "MTFMT",
"hgvs_c": "c.1367_1368delTT",
"hgvs_p": "p.Phe456fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571121.1",
"strand": false,
"transcript": "ENST00000901062.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 440,
"aa_ref": "F",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1904,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 1323,
"cds_start": 1253,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000901059.1",
"gene_hgnc_id": 29666,
"gene_symbol": "MTFMT",
"hgvs_c": "c.1253_1254delTT",
"hgvs_p": "p.Phe418fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571118.1",
"strand": false,
"transcript": "ENST00000901059.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 435,
"aa_ref": "F",
"aa_start": 413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1885,
"cdna_start": 1267,
"cds_end": null,
"cds_length": 1308,
"cds_start": 1238,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000901063.1",
"gene_hgnc_id": 29666,
"gene_symbol": "MTFMT",
"hgvs_c": "c.1238_1239delTT",
"hgvs_p": "p.Phe413fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571122.1",
"strand": false,
"transcript": "ENST00000901063.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 432,
"aa_ref": "F",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1878,
"cdna_start": 1260,
"cds_end": null,
"cds_length": 1299,
"cds_start": 1229,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000965373.1",
"gene_hgnc_id": 29666,
"gene_symbol": "MTFMT",
"hgvs_c": "c.1229_1230delTT",
"hgvs_p": "p.Phe410fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635432.1",
"strand": false,
"transcript": "ENST00000965373.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 427,
"aa_ref": "F",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1845,
"cdna_start": 1227,
"cds_end": null,
"cds_length": 1284,
"cds_start": 1214,
"consequences": [
"frameshift_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000965374.1",
"gene_hgnc_id": 29666,
"gene_symbol": "MTFMT",
"hgvs_c": "c.1214_1215delTT",
"hgvs_p": "p.Phe405fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635433.1",
"strand": false,
"transcript": "ENST00000965374.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 384,
"aa_ref": "F",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1736,
"cdna_start": 1115,
"cds_end": null,
"cds_length": 1155,
"cds_start": 1085,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000901060.1",
"gene_hgnc_id": 29666,
"gene_symbol": "MTFMT",
"hgvs_c": "c.1085_1086delTT",
"hgvs_p": "p.Phe362fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571119.1",
"strand": false,
"transcript": "ENST00000901060.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 381,
"aa_ref": "F",
"aa_start": 359,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1726,
"cdna_start": 1103,
"cds_end": null,
"cds_length": 1146,
"cds_start": 1076,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000901061.1",
"gene_hgnc_id": 29666,
"gene_symbol": "MTFMT",
"hgvs_c": "c.1076_1077delTT",
"hgvs_p": "p.Phe359fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571120.1",
"strand": false,
"transcript": "ENST00000901061.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 376,
"aa_ref": "F",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1198,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 1131,
"cds_start": 1061,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000901067.1",
"gene_hgnc_id": 29666,
"gene_symbol": "MTFMT",
"hgvs_c": "c.1061_1062delTT",
"hgvs_p": "p.Phe354fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571126.1",
"strand": false,
"transcript": "ENST00000901067.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 370,
"aa_ref": "F",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1675,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1113,
"cds_start": 1043,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000917318.1",
"gene_hgnc_id": 29666,
"gene_symbol": "MTFMT",
"hgvs_c": "c.1043_1044delTT",
"hgvs_p": "p.Phe348fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587377.1",
"strand": false,
"transcript": "ENST00000917318.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 332,
"aa_ref": "F",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1079,
"cdna_start": 943,
"cds_end": null,
"cds_length": 999,
"cds_start": 929,
"consequences": [
"frameshift_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000901066.1",
"gene_hgnc_id": 29666,
"gene_symbol": "MTFMT",
"hgvs_c": "c.929_930delTT",
"hgvs_p": "p.Phe310fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571125.1",
"strand": false,
"transcript": "ENST00000901066.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 319,
"aa_ref": "F",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1528,
"cdna_start": 907,
"cds_end": null,
"cds_length": 960,
"cds_start": 890,
"consequences": [
"frameshift_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000901065.1",
"gene_hgnc_id": 29666,
"gene_symbol": "MTFMT",
"hgvs_c": "c.890_891delTT",
"hgvs_p": "p.Phe297fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571124.1",
"strand": false,
"transcript": "ENST00000901065.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 256,
"aa_ref": "F",
"aa_start": 234,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1345,
"cdna_start": 731,
"cds_end": null,
"cds_length": 771,
"cds_start": 701,
"consequences": [
"frameshift_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000901064.1",
"gene_hgnc_id": 29666,
"gene_symbol": "MTFMT",
"hgvs_c": "c.701_702delTT",
"hgvs_p": "p.Phe234fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571123.1",
"strand": false,
"transcript": "ENST00000901064.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 440,
"aa_ref": "F",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2899,
"cdna_start": 1280,
"cds_end": null,
"cds_length": 1323,
"cds_start": 1253,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_005254158.6",
"gene_hgnc_id": 29666,
"gene_symbol": "MTFMT",
"hgvs_c": "c.1253_1254delTT",
"hgvs_p": "p.Phe418fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005254215.2",
"strand": false,
"transcript": "XM_005254158.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1522,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000558460.5",
"gene_hgnc_id": 29666,
"gene_symbol": "MTFMT",
"hgvs_c": "n.1100_1101delTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000452646.1",
"strand": false,
"transcript": "ENST00000558460.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1111,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000560717.5",
"gene_hgnc_id": 29666,
"gene_symbol": "MTFMT",
"hgvs_c": "n.*570_*571delTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457257.1",
"strand": false,
"transcript": "ENST00000560717.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1111,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000560717.5",
"gene_hgnc_id": 29666,
"gene_symbol": "MTFMT",
"hgvs_c": "n.*570_*571delTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000457257.1",
"strand": false,
"transcript": "ENST00000560717.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs754222633",
"effect": "frameshift_variant",
"frequency_reference_population": 0.000013149763,
"gene_hgnc_id": 29666,
"gene_symbol": "MTFMT",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131498,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"phenotype_combined": "Mitochondrial oxidative phosphorylation disorder|not provided",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 5.96,
"pos": 65003130,
"ref": "GAA",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_139242.4"
}
]
}