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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: 21-43094667-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=43094667&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 43094667,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000291552.9",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.470A>G",
"hgvs_p": "p.Gln157Arg",
"transcript": "NM_006758.3",
"protein_id": "NP_006749.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 240,
"cds_start": 470,
"cds_end": null,
"cds_length": 723,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 945,
"mane_select": "ENST00000291552.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.470A>G",
"hgvs_p": "p.Gln157Arg",
"transcript": "ENST00000291552.9",
"protein_id": "ENSP00000291552.4",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 240,
"cds_start": 470,
"cds_end": null,
"cds_length": 723,
"cdna_start": 546,
"cdna_end": null,
"cdna_length": 945,
"mane_select": "NM_006758.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.470A>G",
"hgvs_p": "p.Gln157Arg",
"transcript": "ENST00000380276.6",
"protein_id": "ENSP00000369629.2",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 240,
"cds_start": 470,
"cds_end": null,
"cds_length": 723,
"cdna_start": 541,
"cdna_end": null,
"cdna_length": 940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Gln84Arg",
"transcript": "ENST00000459639.5",
"protein_id": "ENSP00000418705.1",
"transcript_support_level": 1,
"aa_start": 84,
"aa_end": null,
"aa_length": 167,
"cds_start": 251,
"cds_end": null,
"cds_length": 504,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 1675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "n.*309A>G",
"hgvs_p": null,
"transcript": "ENST00000464750.5",
"protein_id": "ENSP00000420672.1",
"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": 966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "n.4295A>G",
"hgvs_p": null,
"transcript": "ENST00000475639.5",
"protein_id": null,
"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": 4694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "n.*309A>G",
"hgvs_p": null,
"transcript": "ENST00000464750.5",
"protein_id": "ENSP00000420672.1",
"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": 966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.470A>G",
"hgvs_p": "p.Gln157Arg",
"transcript": "NM_001025203.1",
"protein_id": "NP_001020374.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 240,
"cds_start": 470,
"cds_end": null,
"cds_length": 723,
"cdna_start": 554,
"cdna_end": null,
"cdna_length": 953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Gln84Arg",
"transcript": "NM_001025204.2",
"protein_id": "NP_001020375.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 167,
"cds_start": 251,
"cds_end": null,
"cds_length": 504,
"cdna_start": 613,
"cdna_end": null,
"cdna_length": 1012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.371A>G",
"hgvs_p": "p.Gln124Arg",
"transcript": "XM_011529743.4",
"protein_id": "XP_011528045.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 207,
"cds_start": 371,
"cds_end": null,
"cds_length": 624,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.371A>G",
"hgvs_p": "p.Gln124Arg",
"transcript": "XM_017028468.3",
"protein_id": "XP_016883957.1",
"transcript_support_level": null,
"aa_start": 124,
"aa_end": null,
"aa_length": 207,
"cds_start": 371,
"cds_end": null,
"cds_length": 624,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Gln84Arg",
"transcript": "XM_024452129.2",
"protein_id": "XP_024307897.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 167,
"cds_start": 251,
"cds_end": null,
"cds_length": 504,
"cdna_start": 608,
"cdna_end": null,
"cdna_length": 1007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Gln84Arg",
"transcript": "XM_024452130.2",
"protein_id": "XP_024307898.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 167,
"cds_start": 251,
"cds_end": null,
"cds_length": 504,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 1067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "c.251A>G",
"hgvs_p": "p.Gln84Arg",
"transcript": "XM_024452131.2",
"protein_id": "XP_024307899.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 167,
"cds_start": 251,
"cds_end": null,
"cds_length": 504,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 1013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "n.1277A>G",
"hgvs_p": null,
"transcript": "ENST00000471250.5",
"protein_id": null,
"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": 1676,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "n.1724A>G",
"hgvs_p": null,
"transcript": "ENST00000478282.1",
"protein_id": null,
"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": 3344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "n.*303A>G",
"hgvs_p": null,
"transcript": "ENST00000486519.5",
"protein_id": "ENSP00000489632.1",
"transcript_support_level": 3,
"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": 682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"hgvs_c": "n.*303A>G",
"hgvs_p": null,
"transcript": "ENST00000486519.5",
"protein_id": "ENSP00000489632.1",
"transcript_support_level": 3,
"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": 682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "U2AF1",
"gene_hgnc_id": 12453,
"dbsnp": "rs371246226",
"frequency_reference_population": 0.000035569046,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000251323,
"gnomad_genomes_af": 0.000102378,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8313014507293701,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.7900000214576721,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.596,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9954,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.171,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.79,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM5,PP2,PP3",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM5",
"PP2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000291552.9",
"gene_symbol": "U2AF1",
"hgnc_id": 12453,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.470A>G",
"hgvs_p": "p.Gln157Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}