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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: 15-52195410-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=52195410&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 52195410,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018728.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5C",
"gene_hgnc_id": 7604,
"hgvs_c": "c.5043G>C",
"hgvs_p": "p.Lys1681Asn",
"transcript": "NM_018728.4",
"protein_id": "NP_061198.2",
"transcript_support_level": null,
"aa_start": 1681,
"aa_end": null,
"aa_length": 1742,
"cds_start": 5043,
"cds_end": null,
"cds_length": 5229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261839.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018728.4"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5C",
"gene_hgnc_id": 7604,
"hgvs_c": "c.5043G>C",
"hgvs_p": "p.Lys1681Asn",
"transcript": "ENST00000261839.12",
"protein_id": "ENSP00000261839.7",
"transcript_support_level": 1,
"aa_start": 1681,
"aa_end": null,
"aa_length": 1742,
"cds_start": 5043,
"cds_end": null,
"cds_length": 5229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018728.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261839.12"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5C",
"gene_hgnc_id": 7604,
"hgvs_c": "c.5010G>C",
"hgvs_p": "p.Lys1670Asn",
"transcript": "ENST00000930074.1",
"protein_id": "ENSP00000600133.1",
"transcript_support_level": null,
"aa_start": 1670,
"aa_end": null,
"aa_length": 1731,
"cds_start": 5010,
"cds_end": null,
"cds_length": 5196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930074.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5C",
"gene_hgnc_id": 7604,
"hgvs_c": "c.4953G>C",
"hgvs_p": "p.Lys1651Asn",
"transcript": "ENST00000930075.1",
"protein_id": "ENSP00000600134.1",
"transcript_support_level": null,
"aa_start": 1651,
"aa_end": null,
"aa_length": 1712,
"cds_start": 4953,
"cds_end": null,
"cds_length": 5139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930075.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5C",
"gene_hgnc_id": 7604,
"hgvs_c": "c.4932G>C",
"hgvs_p": "p.Lys1644Asn",
"transcript": "ENST00000965934.1",
"protein_id": "ENSP00000635993.1",
"transcript_support_level": null,
"aa_start": 1644,
"aa_end": null,
"aa_length": 1705,
"cds_start": 4932,
"cds_end": null,
"cds_length": 5118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965934.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5C",
"gene_hgnc_id": 7604,
"hgvs_c": "c.4908G>C",
"hgvs_p": "p.Lys1636Asn",
"transcript": "ENST00000930076.1",
"protein_id": "ENSP00000600135.1",
"transcript_support_level": null,
"aa_start": 1636,
"aa_end": null,
"aa_length": 1697,
"cds_start": 4908,
"cds_end": null,
"cds_length": 5094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930076.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5C",
"gene_hgnc_id": 7604,
"hgvs_c": "c.4959G>C",
"hgvs_p": "p.Lys1653Asn",
"transcript": "XM_011521781.4",
"protein_id": "XP_011520083.1",
"transcript_support_level": null,
"aa_start": 1653,
"aa_end": null,
"aa_length": 1714,
"cds_start": 4959,
"cds_end": null,
"cds_length": 5145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521781.4"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5C",
"gene_hgnc_id": 7604,
"hgvs_c": "c.4908G>C",
"hgvs_p": "p.Lys1636Asn",
"transcript": "XM_017022408.3",
"protein_id": "XP_016877897.1",
"transcript_support_level": null,
"aa_start": 1636,
"aa_end": null,
"aa_length": 1697,
"cds_start": 4908,
"cds_end": null,
"cds_length": 5094,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022408.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5C",
"gene_hgnc_id": 7604,
"hgvs_c": "c.4824G>C",
"hgvs_p": "p.Lys1608Asn",
"transcript": "XM_047432845.1",
"protein_id": "XP_047288801.1",
"transcript_support_level": null,
"aa_start": 1608,
"aa_end": null,
"aa_length": 1669,
"cds_start": 4824,
"cds_end": null,
"cds_length": 5010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432845.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5C",
"gene_hgnc_id": 7604,
"hgvs_c": "c.4182G>C",
"hgvs_p": "p.Lys1394Asn",
"transcript": "XM_047432846.1",
"protein_id": "XP_047288802.1",
"transcript_support_level": null,
"aa_start": 1394,
"aa_end": null,
"aa_length": 1455,
"cds_start": 4182,
"cds_end": null,
"cds_length": 4368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432846.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5C",
"gene_hgnc_id": 7604,
"hgvs_c": "n.*3817G>C",
"hgvs_p": null,
"transcript": "ENST00000560809.5",
"protein_id": "ENSP00000453641.1",
"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": "ENST00000560809.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO5C",
"gene_hgnc_id": 7604,
"hgvs_c": "n.*3817G>C",
"hgvs_p": null,
"transcript": "ENST00000560809.5",
"protein_id": "ENSP00000453641.1",
"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": "ENST00000560809.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CERNA1",
"gene_hgnc_id": 52664,
"hgvs_c": "n.1057-9479C>G",
"hgvs_p": null,
"transcript": "ENST00000559779.2",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000559779.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CERNA1",
"gene_hgnc_id": 52664,
"hgvs_c": "n.1207-9479C>G",
"hgvs_p": null,
"transcript": "ENST00000560518.2",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000560518.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CERNA1",
"gene_hgnc_id": 52664,
"hgvs_c": "n.548-9479C>G",
"hgvs_p": null,
"transcript": "ENST00000654724.2",
"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": "pseudogene",
"feature": "ENST00000654724.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CERNA1",
"gene_hgnc_id": 52664,
"hgvs_c": "n.131-9479C>G",
"hgvs_p": null,
"transcript": "ENST00000821891.1",
"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": "pseudogene",
"feature": "ENST00000821891.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CERNA1",
"gene_hgnc_id": 52664,
"hgvs_c": "n.530-9479C>G",
"hgvs_p": null,
"transcript": "NR_102751.1",
"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": "pseudogene",
"feature": "NR_102751.1"
}
],
"gene_symbol": "MYO5C",
"gene_hgnc_id": 7604,
"dbsnp": "rs376566491",
"frequency_reference_population": 0.000017355365,
"hom_count_reference_population": 0,
"allele_count_reference_population": 28,
"gnomad_exomes_af": 0.00000958157,
"gnomad_genomes_af": 0.0000919866,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.35410934686660767,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.458,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.643,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.328,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_018728.4",
"gene_symbol": "MYO5C",
"hgnc_id": 7604,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5043G>C",
"hgvs_p": "p.Lys1681Asn"
},
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "ENST00000560518.2",
"gene_symbol": "CERNA1",
"hgnc_id": 52664,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1207-9479C>G",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}