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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: 3-47840991-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47840991&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47840991,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_138615.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Pro161Ser",
"transcript": "NM_138615.3",
"protein_id": "NP_619520.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 1194,
"cds_start": 481,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 3855,
"mane_select": "ENST00000445061.6",
"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": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Pro161Ser",
"transcript": "ENST00000445061.6",
"protein_id": "ENSP00000405620.1",
"transcript_support_level": 1,
"aa_start": 161,
"aa_end": null,
"aa_length": 1194,
"cds_start": 481,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 3855,
"mane_select": "NM_138615.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "n.*381C>T",
"hgvs_p": null,
"transcript": "ENST00000395745.6",
"protein_id": "ENSP00000379094.2",
"transcript_support_level": 1,
"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": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "n.*381C>T",
"hgvs_p": null,
"transcript": "ENST00000395745.6",
"protein_id": "ENSP00000379094.2",
"transcript_support_level": 1,
"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": 3887,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.565C>T",
"hgvs_p": "p.Pro189Ser",
"transcript": "ENST00000457607.1",
"protein_id": "ENSP00000394682.1",
"transcript_support_level": 5,
"aa_start": 189,
"aa_end": null,
"aa_length": 1222,
"cds_start": 565,
"cds_end": null,
"cds_length": 3669,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 3748,
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Pro161Ser",
"transcript": "ENST00000446256.6",
"protein_id": "ENSP00000392601.3",
"transcript_support_level": 2,
"aa_start": 161,
"aa_end": null,
"aa_length": 1194,
"cds_start": 481,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 481,
"cdna_end": null,
"cdna_length": 3660,
"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": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Pro133Ser",
"transcript": "NM_001330990.2",
"protein_id": "NP_001317919.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 1166,
"cds_start": 397,
"cds_end": null,
"cds_length": 3501,
"cdna_start": 844,
"cdna_end": null,
"cdna_length": 4021,
"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": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.397C>T",
"hgvs_p": "p.Pro133Ser",
"transcript": "ENST00000348968.8",
"protein_id": "ENSP00000343442.4",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 1166,
"cds_start": 397,
"cds_end": null,
"cds_length": 3501,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 3994,
"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": 8,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "NM_014966.4",
"protein_id": "NP_055781.2",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 1155,
"cds_start": 364,
"cds_end": null,
"cds_length": 3468,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 3884,
"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": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"transcript": "ENST00000619982.4",
"protein_id": "ENSP00000483160.1",
"transcript_support_level": 5,
"aa_start": 122,
"aa_end": null,
"aa_length": 1155,
"cds_start": 364,
"cds_end": null,
"cds_length": 3468,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 3574,
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Pro232Ser",
"transcript": "XM_047447727.1",
"protein_id": "XP_047303683.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 1265,
"cds_start": 694,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 935,
"cdna_end": null,
"cdna_length": 4112,
"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": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Pro232Ser",
"transcript": "XM_047447728.1",
"protein_id": "XP_047303684.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 1265,
"cds_start": 694,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 1070,
"cdna_end": null,
"cdna_length": 4247,
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.694C>T",
"hgvs_p": "p.Pro232Ser",
"transcript": "XM_047447729.1",
"protein_id": "XP_047303685.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 1265,
"cds_start": 694,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 906,
"cdna_end": null,
"cdna_length": 4083,
"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": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.583C>T",
"hgvs_p": "p.Pro195Ser",
"transcript": "XM_024453405.2",
"protein_id": "XP_024309173.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 1228,
"cds_start": 583,
"cds_end": null,
"cds_length": 3687,
"cdna_start": 824,
"cdna_end": null,
"cdna_length": 4001,
"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": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Pro161Ser",
"transcript": "XM_011533494.4",
"protein_id": "XP_011531796.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 1194,
"cds_start": 481,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 4053,
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.385C>T",
"hgvs_p": "p.Pro129Ser",
"transcript": "XM_006713033.2",
"protein_id": "XP_006713096.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 1162,
"cds_start": 385,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 3759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "n.*381C>T",
"hgvs_p": null,
"transcript": "ENST00000441384.5",
"protein_id": "ENSP00000410571.1",
"transcript_support_level": 2,
"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": 1957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "n.*381C>T",
"hgvs_p": null,
"transcript": "ENST00000441384.5",
"protein_id": "ENSP00000410571.1",
"transcript_support_level": 2,
"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": 1957,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"dbsnp": "rs373104892",
"frequency_reference_population": 0.0000061564137,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000615641,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11560630798339844,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.077,
"revel_prediction": "Benign",
"alphamissense_score": 0.0803,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.722,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_138615.3",
"gene_symbol": "DHX30",
"hgnc_id": 16716,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.481C>T",
"hgvs_p": "p.Pro161Ser"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}