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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: 17-44851717-C-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44851717&ref=C&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44851717,
"ref": "C",
"alt": "CG",
"effect": "frameshift_variant",
"transcript": "NM_004247.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2815dupC",
"hgvs_p": "p.Arg939fs",
"transcript": "NM_004247.4",
"protein_id": "NP_004238.3",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 972,
"cds_start": 2815,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000426333.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004247.4"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2815dupC",
"hgvs_p": "p.Arg939fs",
"transcript": "ENST00000426333.7",
"protein_id": "ENSP00000392094.1",
"transcript_support_level": 1,
"aa_start": 939,
"aa_end": null,
"aa_length": 972,
"cds_start": 2815,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004247.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426333.7"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2983dupC",
"hgvs_p": "p.Arg995fs",
"transcript": "ENST00000969864.1",
"protein_id": "ENSP00000639923.1",
"transcript_support_level": null,
"aa_start": 995,
"aa_end": null,
"aa_length": 1028,
"cds_start": 2983,
"cds_end": null,
"cds_length": 3087,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969864.1"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2839dupC",
"hgvs_p": "p.Arg947fs",
"transcript": "ENST00000880576.1",
"protein_id": "ENSP00000550635.1",
"transcript_support_level": null,
"aa_start": 947,
"aa_end": null,
"aa_length": 980,
"cds_start": 2839,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880576.1"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2821dupC",
"hgvs_p": "p.Arg941fs",
"transcript": "ENST00000925102.1",
"protein_id": "ENSP00000595161.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 974,
"cds_start": 2821,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925102.1"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2821dupC",
"hgvs_p": "p.Arg941fs",
"transcript": "ENST00000969865.1",
"protein_id": "ENSP00000639924.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 974,
"cds_start": 2821,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969865.1"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2815dupC",
"hgvs_p": "p.Arg939fs",
"transcript": "NM_001258353.2",
"protein_id": "NP_001245282.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 972,
"cds_start": 2815,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258353.2"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2815dupC",
"hgvs_p": "p.Arg939fs",
"transcript": "ENST00000591382.5",
"protein_id": "ENSP00000467805.1",
"transcript_support_level": 2,
"aa_start": 939,
"aa_end": null,
"aa_length": 972,
"cds_start": 2815,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591382.5"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2815dupC",
"hgvs_p": "p.Arg939fs",
"transcript": "ENST00000880575.1",
"protein_id": "ENSP00000550634.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 972,
"cds_start": 2815,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880575.1"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2815dupC",
"hgvs_p": "p.Arg939fs",
"transcript": "ENST00000880577.1",
"protein_id": "ENSP00000550636.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 972,
"cds_start": 2815,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880577.1"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2815dupC",
"hgvs_p": "p.Arg939fs",
"transcript": "ENST00000969866.1",
"protein_id": "ENSP00000639925.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 972,
"cds_start": 2815,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969866.1"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2785dupC",
"hgvs_p": "p.Arg929fs",
"transcript": "NM_001258354.2",
"protein_id": "NP_001245283.1",
"transcript_support_level": null,
"aa_start": 929,
"aa_end": null,
"aa_length": 962,
"cds_start": 2785,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001258354.2"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2785dupC",
"hgvs_p": "p.Arg929fs",
"transcript": "ENST00000592576.5",
"protein_id": "ENSP00000465058.1",
"transcript_support_level": 2,
"aa_start": 929,
"aa_end": null,
"aa_length": 962,
"cds_start": 2785,
"cds_end": null,
"cds_length": 2889,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592576.5"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2779dupC",
"hgvs_p": "p.Arg927fs",
"transcript": "ENST00000925103.1",
"protein_id": "ENSP00000595162.1",
"transcript_support_level": null,
"aa_start": 927,
"aa_end": null,
"aa_length": 960,
"cds_start": 2779,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925103.1"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2767dupC",
"hgvs_p": "p.Arg923fs",
"transcript": "ENST00000880574.1",
"protein_id": "ENSP00000550633.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 956,
"cds_start": 2767,
"cds_end": null,
"cds_length": 2871,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880574.1"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2752dupC",
"hgvs_p": "p.Arg918fs",
"transcript": "ENST00000925105.1",
"protein_id": "ENSP00000595164.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 951,
"cds_start": 2752,
"cds_end": null,
"cds_length": 2856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925105.1"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2815dupC",
"hgvs_p": "p.Arg939fs",
"transcript": "ENST00000969868.1",
"protein_id": "ENSP00000639927.1",
"transcript_support_level": null,
"aa_start": 939,
"aa_end": null,
"aa_length": 949,
"cds_start": 2815,
"cds_end": null,
"cds_length": 2850,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969868.1"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2713dupC",
"hgvs_p": "p.Arg905fs",
"transcript": "ENST00000969867.1",
"protein_id": "ENSP00000639926.1",
"transcript_support_level": null,
"aa_start": 905,
"aa_end": null,
"aa_length": 938,
"cds_start": 2713,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969867.1"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2710dupC",
"hgvs_p": "p.Arg904fs",
"transcript": "NM_001142605.2",
"protein_id": "NP_001136077.1",
"transcript_support_level": null,
"aa_start": 904,
"aa_end": null,
"aa_length": 937,
"cds_start": 2710,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142605.2"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2710dupC",
"hgvs_p": "p.Arg904fs",
"transcript": "ENST00000402521.7",
"protein_id": "ENSP00000385873.2",
"transcript_support_level": 2,
"aa_start": 904,
"aa_end": null,
"aa_length": 937,
"cds_start": 2710,
"cds_end": null,
"cds_length": 2814,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402521.7"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2674dupC",
"hgvs_p": "p.Arg892fs",
"transcript": "ENST00000969863.1",
"protein_id": "ENSP00000639922.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 925,
"cds_start": 2674,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969863.1"
},
{
"aa_ref": "R",
"aa_alt": "P?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFTUD2",
"gene_hgnc_id": 30858,
"hgvs_c": "c.2626dupC",
"hgvs_p": "p.Arg876fs",
"transcript": "ENST00000880573.1",
"protein_id": "ENSP00000550632.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 909,
"cds_start": 2626,
"cds_end": null,
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"cdna_start": null,
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],
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"hom_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": null,
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"phylop100way_score": 6.761,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
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"acmg_criteria": "PVS1_Moderate,PM2,PP5_Moderate",
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{
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"PM2",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_004247.4",
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],
"inheritance_mode": "AD",
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],
"clinvar_disease": "Mandibulofacial dysostosis-microcephaly syndrome",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Mandibulofacial dysostosis-microcephaly syndrome",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}