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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: 18-79715069-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=79715069&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 79715069,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000613122.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDP1",
"gene_hgnc_id": 2498,
"hgvs_c": "c.1609G>A",
"hgvs_p": "p.Glu537Lys",
"transcript": "NM_004715.5",
"protein_id": "NP_004706.3",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 961,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": "ENST00000613122.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDP1",
"gene_hgnc_id": 2498,
"hgvs_c": "c.1609G>A",
"hgvs_p": "p.Glu537Lys",
"transcript": "ENST00000613122.5",
"protein_id": "ENSP00000484525.2",
"transcript_support_level": 1,
"aa_start": 537,
"aa_end": null,
"aa_length": 961,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 3744,
"mane_select": "NM_004715.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDP1",
"gene_hgnc_id": 2498,
"hgvs_c": "c.1609G>A",
"hgvs_p": "p.Glu537Lys",
"transcript": "ENST00000075430.11",
"protein_id": "ENSP00000075430.7",
"transcript_support_level": 1,
"aa_start": 537,
"aa_end": null,
"aa_length": 867,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 3538,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDP1",
"gene_hgnc_id": 2498,
"hgvs_c": "c.1405G>A",
"hgvs_p": "p.Glu469Lys",
"transcript": "ENST00000591598.5",
"protein_id": "ENSP00000465119.1",
"transcript_support_level": 1,
"aa_start": 469,
"aa_end": null,
"aa_length": 799,
"cds_start": 1405,
"cds_end": null,
"cds_length": 2400,
"cdna_start": 1405,
"cdna_end": null,
"cdna_length": 3228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDP1",
"gene_hgnc_id": 2498,
"hgvs_c": "c.1609G>A",
"hgvs_p": "p.Glu537Lys",
"transcript": "NM_001318511.2",
"protein_id": "NP_001305440.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 867,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 5699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDP1",
"gene_hgnc_id": 2498,
"hgvs_c": "c.1609G>A",
"hgvs_p": "p.Glu537Lys",
"transcript": "NM_048368.4",
"protein_id": "NP_430255.2",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 867,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2604,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 5703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDP1",
"gene_hgnc_id": 2498,
"hgvs_c": "c.1252G>A",
"hgvs_p": "p.Glu418Lys",
"transcript": "NM_001202504.1",
"protein_id": "NP_001189433.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 842,
"cds_start": 1252,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 1383,
"cdna_end": null,
"cdna_length": 3380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDP1",
"gene_hgnc_id": 2498,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Glu77Lys",
"transcript": "ENST00000299543.9",
"protein_id": "ENSP00000299543.9",
"transcript_support_level": 5,
"aa_start": 77,
"aa_end": null,
"aa_length": 391,
"cds_start": 229,
"cds_end": null,
"cds_length": 1176,
"cdna_start": 231,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDP1",
"gene_hgnc_id": 2498,
"hgvs_c": "c.1549G>A",
"hgvs_p": "p.Glu517Lys",
"transcript": "XM_047437922.1",
"protein_id": "XP_047293878.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 941,
"cds_start": 1549,
"cds_end": null,
"cds_length": 2826,
"cdna_start": 1553,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDP1",
"gene_hgnc_id": 2498,
"hgvs_c": "c.1468G>A",
"hgvs_p": "p.Glu490Lys",
"transcript": "XM_047437921.1",
"protein_id": "XP_047293877.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 914,
"cds_start": 1468,
"cds_end": null,
"cds_length": 2745,
"cdna_start": 1487,
"cdna_end": null,
"cdna_length": 5599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDP1",
"gene_hgnc_id": 2498,
"hgvs_c": "c.1306G>A",
"hgvs_p": "p.Glu436Lys",
"transcript": "XM_047437923.1",
"protein_id": "XP_047293879.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 860,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 2494,
"cdna_end": null,
"cdna_length": 6606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDP1",
"gene_hgnc_id": 2498,
"hgvs_c": "c.1609G>A",
"hgvs_p": "p.Glu537Lys",
"transcript": "XM_011526261.2",
"protein_id": "XP_011524563.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 851,
"cds_start": 1609,
"cds_end": null,
"cds_length": 2556,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 5536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDP1",
"gene_hgnc_id": 2498,
"hgvs_c": "c.1252G>A",
"hgvs_p": "p.Glu418Lys",
"transcript": "XM_047437924.1",
"protein_id": "XP_047293880.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 842,
"cds_start": 1252,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 3758,
"cdna_end": null,
"cdna_length": 7870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDP1",
"gene_hgnc_id": 2498,
"hgvs_c": "c.1252G>A",
"hgvs_p": "p.Glu418Lys",
"transcript": "XM_047437925.1",
"protein_id": "XP_047293881.1",
"transcript_support_level": null,
"aa_start": 418,
"aa_end": null,
"aa_length": 842,
"cds_start": 1252,
"cds_end": null,
"cds_length": 2529,
"cdna_start": 1314,
"cdna_end": null,
"cdna_length": 5426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDP1",
"gene_hgnc_id": 2498,
"hgvs_c": "c.1468G>A",
"hgvs_p": "p.Glu490Lys",
"transcript": "XM_047437926.1",
"protein_id": "XP_047293882.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 820,
"cds_start": 1468,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 5432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CTDP1",
"gene_hgnc_id": 2498,
"hgvs_c": "c.1468G>A",
"hgvs_p": "p.Glu490Lys",
"transcript": "XM_047437927.1",
"protein_id": "XP_047293883.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 820,
"cds_start": 1468,
"cds_end": null,
"cds_length": 2463,
"cdna_start": 1487,
"cdna_end": null,
"cdna_length": 5436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"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": "CTDP1",
"gene_hgnc_id": 2498,
"hgvs_c": "c.1054G>A",
"hgvs_p": "p.Glu352Lys",
"transcript": "XM_017026078.2",
"protein_id": "XP_016881567.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 776,
"cds_start": 1054,
"cds_end": null,
"cds_length": 2331,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 5374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "CTDP1",
"gene_hgnc_id": 2498,
"dbsnp": "rs146547758",
"frequency_reference_population": 0.0000037216412,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000342476,
"gnomad_genomes_af": 0.00000656875,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2245326042175293,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.175,
"revel_prediction": "Benign",
"alphamissense_score": 0.101,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.423,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000613122.5",
"gene_symbol": "CTDP1",
"hgnc_id": 2498,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1609G>A",
"hgvs_p": "p.Glu537Lys"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}