← Back to variant description
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: 7-107919057-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=107919057&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 107919057,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_000108.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1422A>C",
"hgvs_p": "p.Gly474Gly",
"transcript": "NM_000108.5",
"protein_id": "NP_000099.2",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 509,
"cds_start": 1422,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000205402.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000108.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1422A>C",
"hgvs_p": "p.Gly474Gly",
"transcript": "ENST00000205402.10",
"protein_id": "ENSP00000205402.3",
"transcript_support_level": 1,
"aa_start": 474,
"aa_end": null,
"aa_length": 509,
"cds_start": 1422,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000108.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000205402.10"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1404A>C",
"hgvs_p": "p.Gly468Gly",
"transcript": "ENST00000880448.1",
"protein_id": "ENSP00000550507.1",
"transcript_support_level": null,
"aa_start": 468,
"aa_end": null,
"aa_length": 503,
"cds_start": 1404,
"cds_end": null,
"cds_length": 1512,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880448.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1398A>C",
"hgvs_p": "p.Gly466Gly",
"transcript": "ENST00000880447.1",
"protein_id": "ENSP00000550506.1",
"transcript_support_level": null,
"aa_start": 466,
"aa_end": null,
"aa_length": 501,
"cds_start": 1398,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880447.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1386A>C",
"hgvs_p": "p.Gly462Gly",
"transcript": "ENST00000880450.1",
"protein_id": "ENSP00000550509.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 497,
"cds_start": 1386,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880450.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1356A>C",
"hgvs_p": "p.Gly452Gly",
"transcript": "ENST00000924909.1",
"protein_id": "ENSP00000594968.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 487,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924909.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1353A>C",
"hgvs_p": "p.Gly451Gly",
"transcript": "NM_001289751.1",
"protein_id": "NP_001276680.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 486,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289751.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1353A>C",
"hgvs_p": "p.Gly451Gly",
"transcript": "ENST00000440410.5",
"protein_id": "ENSP00000417016.1",
"transcript_support_level": 2,
"aa_start": 451,
"aa_end": null,
"aa_length": 486,
"cds_start": 1353,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440410.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1335A>C",
"hgvs_p": "p.Gly445Gly",
"transcript": "ENST00000880449.1",
"protein_id": "ENSP00000550508.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 480,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880449.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1302A>C",
"hgvs_p": "p.Gly434Gly",
"transcript": "ENST00000880452.1",
"protein_id": "ENSP00000550511.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 469,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1410,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880452.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1278A>C",
"hgvs_p": "p.Gly426Gly",
"transcript": "NM_001289752.1",
"protein_id": "NP_001276681.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 461,
"cds_start": 1278,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289752.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1278A>C",
"hgvs_p": "p.Gly426Gly",
"transcript": "ENST00000437604.6",
"protein_id": "ENSP00000387542.2",
"transcript_support_level": 2,
"aa_start": 426,
"aa_end": null,
"aa_length": 461,
"cds_start": 1278,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437604.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1251A>C",
"hgvs_p": "p.Gly417Gly",
"transcript": "ENST00000924908.1",
"protein_id": "ENSP00000594967.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 452,
"cds_start": 1251,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924908.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1194A>C",
"hgvs_p": "p.Gly398Gly",
"transcript": "ENST00000957323.1",
"protein_id": "ENSP00000627382.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 433,
"cds_start": 1194,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957323.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1176A>C",
"hgvs_p": "p.Gly392Gly",
"transcript": "ENST00000924910.1",
"protein_id": "ENSP00000594969.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 427,
"cds_start": 1176,
"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": "ENST00000924910.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1125A>C",
"hgvs_p": "p.Gly375Gly",
"transcript": "NM_001289750.1",
"protein_id": "NP_001276679.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 410,
"cds_start": 1125,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289750.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "c.1375-137A>C",
"hgvs_p": null,
"transcript": "ENST00000880451.1",
"protein_id": "ENSP00000550510.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": null,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880451.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "n.*1096A>C",
"hgvs_p": null,
"transcript": "ENST00000415325.5",
"protein_id": "ENSP00000402593.1",
"transcript_support_level": 2,
"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": "ENST00000415325.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "n.1422A>C",
"hgvs_p": null,
"transcript": "ENST00000417551.5",
"protein_id": "ENSP00000390667.1",
"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": "ENST00000417551.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"hgvs_c": "n.*1096A>C",
"hgvs_p": null,
"transcript": "ENST00000415325.5",
"protein_id": "ENSP00000402593.1",
"transcript_support_level": 2,
"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": "ENST00000415325.5"
}
],
"gene_symbol": "DLD",
"gene_hgnc_id": 2898,
"dbsnp": "rs34453495",
"frequency_reference_population": 0.011261191,
"hom_count_reference_population": 119,
"allele_count_reference_population": 18175,
"gnomad_exomes_af": 0.011507,
"gnomad_genomes_af": 0.00890208,
"gnomad_exomes_ac": 16819,
"gnomad_genomes_ac": 1356,
"gnomad_exomes_homalt": 113,
"gnomad_genomes_homalt": 6,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.5,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.78,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_000108.5",
"gene_symbol": "DLD",
"hgnc_id": 2898,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1422A>C",
"hgvs_p": "p.Gly474Gly"
}
],
"clinvar_disease": "Leigh syndrome,Pyruvate dehydrogenase E3 deficiency,Pyruvate dehydrogenase complex deficiency,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:5",
"phenotype_combined": "not specified|not provided|Pyruvate dehydrogenase E3 deficiency|Pyruvate dehydrogenase complex deficiency|Leigh syndrome",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}