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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: 1-6444538-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=6444538&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 6444538,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000645284.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.1048C>T",
"hgvs_p": "p.Pro350Ser",
"transcript": "NM_031475.3",
"protein_id": "NP_113663.2",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 854,
"cds_start": 1048,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": "ENST00000645284.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.1048C>T",
"hgvs_p": "p.Pro350Ser",
"transcript": "ENST00000645284.1",
"protein_id": "ENSP00000496593.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 854,
"cds_start": 1048,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 3543,
"mane_select": "NM_031475.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.1048C>T",
"hgvs_p": "p.Pro350Ser",
"transcript": "ENST00000636330.1",
"protein_id": "ENSP00000490186.1",
"transcript_support_level": 5,
"aa_start": 350,
"aa_end": null,
"aa_length": 1362,
"cds_start": 1048,
"cds_end": null,
"cds_length": 4089,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 4731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.1048C>T",
"hgvs_p": "p.Pro350Ser",
"transcript": "NM_001367474.1",
"protein_id": "NP_001354403.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 833,
"cds_start": 1048,
"cds_end": null,
"cds_length": 2502,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 3480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.1048C>T",
"hgvs_p": "p.Pro350Ser",
"transcript": "NM_001367473.1",
"protein_id": "NP_001354402.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 824,
"cds_start": 1048,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 3453,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.403C>T",
"hgvs_p": "p.Pro135Ser",
"transcript": "ENST00000418286.1",
"protein_id": "ENSP00000401793.1",
"transcript_support_level": 3,
"aa_start": 135,
"aa_end": null,
"aa_length": 212,
"cds_start": 403,
"cds_end": null,
"cds_length": 641,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.1048C>T",
"hgvs_p": "p.Pro350Ser",
"transcript": "XM_011542231.1",
"protein_id": "XP_011540533.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 1341,
"cds_start": 1048,
"cds_end": null,
"cds_length": 4026,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 4680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.1048C>T",
"hgvs_p": "p.Pro350Ser",
"transcript": "XM_011542232.1",
"protein_id": "XP_011540534.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 1332,
"cds_start": 1048,
"cds_end": null,
"cds_length": 3999,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 4653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.430C>T",
"hgvs_p": "p.Pro144Ser",
"transcript": "XM_011542233.3",
"protein_id": "XP_011540535.2",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 1135,
"cds_start": 430,
"cds_end": null,
"cds_length": 3408,
"cdna_start": 651,
"cdna_end": null,
"cdna_length": 4103,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.1048C>T",
"hgvs_p": "p.Pro350Ser",
"transcript": "XM_017002433.2",
"protein_id": "XP_016857922.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 823,
"cds_start": 1048,
"cds_end": null,
"cds_length": 2472,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 2837,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.1048C>T",
"hgvs_p": "p.Pro350Ser",
"transcript": "XM_011542237.1",
"protein_id": "XP_011540539.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 527,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1584,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 2388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"hgvs_c": "c.1048C>T",
"hgvs_p": "p.Pro350Ser",
"transcript": "XM_011542238.4",
"protein_id": "XP_011540540.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 517,
"cds_start": 1048,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 1228,
"cdna_end": null,
"cdna_length": 1831,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000231868",
"gene_hgnc_id": null,
"hgvs_c": "n.215+1024G>A",
"hgvs_p": null,
"transcript": "ENST00000419034.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ESPN",
"gene_hgnc_id": 13281,
"dbsnp": "rs115143295",
"frequency_reference_population": 0.00013628823,
"hom_count_reference_population": 0,
"allele_count_reference_population": 220,
"gnomad_exomes_af": 0.0000725091,
"gnomad_genomes_af": 0.000748326,
"gnomad_exomes_ac": 106,
"gnomad_genomes_ac": 114,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009685337543487549,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.089,
"revel_prediction": "Benign",
"alphamissense_score": 0.1676,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.341,
"phylop100way_prediction": "Uncertain_significance",
"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": -16,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1",
"acmg_by_gene": [
{
"score": -16,
"benign_score": 16,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000645284.1",
"gene_symbol": "ESPN",
"hgnc_id": 13281,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown,AD",
"hgvs_c": "c.1048C>T",
"hgvs_p": "p.Pro350Ser"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000419034.1",
"gene_symbol": "ENSG00000231868",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.215+1024G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 36,not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not specified|Autosomal recessive nonsyndromic hearing loss 36|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}