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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: 7-151355921-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=151355921&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 151355921,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001243351.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "M",
"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": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.569A>T",
"hgvs_p": "p.Lys190Met",
"transcript": "NM_001243351.2",
"protein_id": "NP_001230280.2",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 615,
"cds_start": 569,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": "ENST00000568733.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": true,
"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": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.569A>T",
"hgvs_p": "p.Lys190Met",
"transcript": "ENST00000568733.6",
"protein_id": "ENSP00000454264.2",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 615,
"cds_start": 569,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 3109,
"mane_select": "NM_001243351.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"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": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.569A>T",
"hgvs_p": "p.Lys190Met",
"transcript": "ENST00000413040.7",
"protein_id": "ENSP00000398644.3",
"transcript_support_level": 1,
"aa_start": 190,
"aa_end": null,
"aa_length": 601,
"cds_start": 569,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 3107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"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": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.569A>T",
"hgvs_p": "p.Lys190Met",
"transcript": "NM_001363529.2",
"protein_id": "NP_001350458.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 615,
"cds_start": 569,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"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": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.569A>T",
"hgvs_p": "p.Lys190Met",
"transcript": "ENST00000470229.6",
"protein_id": "ENSP00000418234.2",
"transcript_support_level": 2,
"aa_start": 190,
"aa_end": null,
"aa_length": 615,
"cds_start": 569,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 3210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"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": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.569A>T",
"hgvs_p": "p.Lys190Met",
"transcript": "NM_001385353.1",
"protein_id": "NP_001372282.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 601,
"cds_start": 569,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 3186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"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": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.569A>T",
"hgvs_p": "p.Lys190Met",
"transcript": "NM_016118.5",
"protein_id": "NP_057202.4",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 601,
"cds_start": 569,
"cds_end": null,
"cds_length": 1806,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 3067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"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": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.569A>T",
"hgvs_p": "p.Lys190Met",
"transcript": "NM_001385354.1",
"protein_id": "NP_001372283.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 600,
"cds_start": 569,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"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": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.569A>T",
"hgvs_p": "p.Lys190Met",
"transcript": "NM_001385355.1",
"protein_id": "NP_001372284.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 600,
"cds_start": 569,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 3183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"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": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.569A>T",
"hgvs_p": "p.Lys190Met",
"transcript": "NM_001385356.1",
"protein_id": "NP_001372285.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 566,
"cds_start": 569,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 3081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"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": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.569A>T",
"hgvs_p": "p.Lys190Met",
"transcript": "NM_001385361.1",
"protein_id": "NP_001372290.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 566,
"cds_start": 569,
"cds_end": null,
"cds_length": 1701,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.569A>T",
"hgvs_p": "p.Lys190Met",
"transcript": "ENST00000483358.5",
"protein_id": "ENSP00000420086.1",
"transcript_support_level": 2,
"aa_start": 190,
"aa_end": null,
"aa_length": 253,
"cds_start": 569,
"cds_end": null,
"cds_length": 762,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"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": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.569A>T",
"hgvs_p": "p.Lys190Met",
"transcript": "XM_017012304.2",
"protein_id": "XP_016867793.2",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 614,
"cds_start": 569,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 3106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"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": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.569A>T",
"hgvs_p": "p.Lys190Met",
"transcript": "XM_017012308.2",
"protein_id": "XP_016867797.2",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 565,
"cds_start": 569,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "c.110A>T",
"hgvs_p": "p.Lys37Met",
"transcript": "XM_024446798.2",
"protein_id": "XP_024302566.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 462,
"cds_start": 110,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 452,
"cdna_end": null,
"cdna_length": 2955,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "n.569A>T",
"hgvs_p": null,
"transcript": "ENST00000468404.5",
"protein_id": "ENSP00000420638.1",
"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": 1703,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "n.*220A>T",
"hgvs_p": null,
"transcript": "ENST00000470316.5",
"protein_id": "ENSP00000420023.1",
"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": 1752,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "n.340A>T",
"hgvs_p": null,
"transcript": "ENST00000477666.1",
"protein_id": null,
"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": 568,
"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": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "n.380A>T",
"hgvs_p": null,
"transcript": "ENST00000480907.5",
"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": 977,
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "n.588A>T",
"hgvs_p": null,
"transcript": "ENST00000493588.5",
"protein_id": null,
"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": 867,
"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": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"hgvs_c": "n.*220A>T",
"hgvs_p": null,
"transcript": "ENST00000470316.5",
"protein_id": "ENSP00000420023.1",
"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": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NUB1",
"gene_hgnc_id": 17623,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30730894207954407,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.159,
"revel_prediction": "Benign",
"alphamissense_score": 0.2337,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.086,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001243351.2",
"gene_symbol": "NUB1",
"hgnc_id": 17623,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.569A>T",
"hgvs_p": "p.Lys190Met"
}
],
"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
}