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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: 15-65003140-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=65003140&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 65003140,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_139242.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1092A>G",
"hgvs_p": "p.Gln364Gln",
"transcript": "NM_139242.4",
"protein_id": "NP_640335.2",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 389,
"cds_start": 1092,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": "ENST00000220058.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_139242.4"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1092A>G",
"hgvs_p": "p.Gln364Gln",
"transcript": "ENST00000220058.9",
"protein_id": "ENSP00000220058.4",
"transcript_support_level": 1,
"aa_start": 364,
"aa_end": null,
"aa_length": 389,
"cds_start": 1092,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": "NM_139242.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000220058.9"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1359A>G",
"hgvs_p": "p.Gln453Gln",
"transcript": "ENST00000901062.1",
"protein_id": "ENSP00000571121.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 478,
"cds_start": 1359,
"cds_end": null,
"cds_length": 1437,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 2015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901062.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1245A>G",
"hgvs_p": "p.Gln415Gln",
"transcript": "ENST00000901059.1",
"protein_id": "ENSP00000571118.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 440,
"cds_start": 1245,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901059.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1230A>G",
"hgvs_p": "p.Gln410Gln",
"transcript": "ENST00000901063.1",
"protein_id": "ENSP00000571122.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 435,
"cds_start": 1230,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1258,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901063.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1221A>G",
"hgvs_p": "p.Gln407Gln",
"transcript": "ENST00000965373.1",
"protein_id": "ENSP00000635432.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 432,
"cds_start": 1221,
"cds_end": null,
"cds_length": 1299,
"cdna_start": 1251,
"cdna_end": null,
"cdna_length": 1878,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965373.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1206A>G",
"hgvs_p": "p.Gln402Gln",
"transcript": "ENST00000965374.1",
"protein_id": "ENSP00000635433.1",
"transcript_support_level": null,
"aa_start": 402,
"aa_end": null,
"aa_length": 427,
"cds_start": 1206,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 1845,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965374.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1077A>G",
"hgvs_p": "p.Gln359Gln",
"transcript": "ENST00000901060.1",
"protein_id": "ENSP00000571119.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 384,
"cds_start": 1077,
"cds_end": null,
"cds_length": 1155,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901060.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1068A>G",
"hgvs_p": "p.Gln356Gln",
"transcript": "ENST00000901061.1",
"protein_id": "ENSP00000571120.1",
"transcript_support_level": null,
"aa_start": 356,
"aa_end": null,
"aa_length": 381,
"cds_start": 1068,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901061.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1053A>G",
"hgvs_p": "p.Gln351Gln",
"transcript": "ENST00000901067.1",
"protein_id": "ENSP00000571126.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 376,
"cds_start": 1053,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1059,
"cdna_end": null,
"cdna_length": 1198,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901067.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1035A>G",
"hgvs_p": "p.Gln345Gln",
"transcript": "ENST00000917318.1",
"protein_id": "ENSP00000587377.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 370,
"cds_start": 1035,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 1675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917318.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.921A>G",
"hgvs_p": "p.Gln307Gln",
"transcript": "ENST00000901066.1",
"protein_id": "ENSP00000571125.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 332,
"cds_start": 921,
"cds_end": null,
"cds_length": 999,
"cdna_start": 934,
"cdna_end": null,
"cdna_length": 1079,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901066.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.882A>G",
"hgvs_p": "p.Gln294Gln",
"transcript": "ENST00000901065.1",
"protein_id": "ENSP00000571124.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 319,
"cds_start": 882,
"cds_end": null,
"cds_length": 960,
"cdna_start": 898,
"cdna_end": null,
"cdna_length": 1528,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901065.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.693A>G",
"hgvs_p": "p.Gln231Gln",
"transcript": "ENST00000901064.1",
"protein_id": "ENSP00000571123.1",
"transcript_support_level": null,
"aa_start": 231,
"aa_end": null,
"aa_length": 256,
"cds_start": 693,
"cds_end": null,
"cds_length": 771,
"cdna_start": 722,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901064.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1245A>G",
"hgvs_p": "p.Gln415Gln",
"transcript": "XM_005254158.6",
"protein_id": "XP_005254215.2",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 440,
"cds_start": 1245,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 1271,
"cdna_end": null,
"cdna_length": 2899,
"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.1092A>G",
"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": 1522,
"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.*562A>G",
"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": 1111,
"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.*562A>G",
"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": 1111,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000560717.5"
}
],
"gene_symbol": "MTFMT",
"gene_hgnc_id": 29666,
"dbsnp": "rs4586374",
"frequency_reference_population": 0.00020264769,
"hom_count_reference_population": 0,
"allele_count_reference_population": 327,
"gnomad_exomes_af": 0.000162178,
"gnomad_genomes_af": 0.000591001,
"gnomad_exomes_ac": 237,
"gnomad_genomes_ac": 90,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8500000238418579,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.85,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -6.056,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_139242.4",
"gene_symbol": "MTFMT",
"hgnc_id": 29666,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1092A>G",
"hgvs_p": "p.Gln364Gln"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}