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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: 8-93782455-CAA-GAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=93782455&ref=CAA&alt=GAG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1",
"PM5",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMEM67",
"hgnc_id": 28396,
"hgvs_c": "c.1126_1128delCAAinsGAG",
"hgvs_p": "p.Gln376Glu",
"inheritance_mode": "AR",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_153704.6",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS1,PM5,PP3",
"acmg_score": 7,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GAG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 995,
"aa_ref": "Q",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4678,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 2988,
"cds_start": 1126,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_153704.6",
"gene_hgnc_id": 28396,
"gene_symbol": "TMEM67",
"hgvs_c": "c.1126_1128delCAAinsGAG",
"hgvs_p": "p.Gln376Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000453321.8",
"protein_coding": true,
"protein_id": "NP_714915.3",
"strand": true,
"transcript": "NM_153704.6",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 995,
"aa_ref": "Q",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4678,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 2988,
"cds_start": 1126,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000453321.8",
"gene_hgnc_id": 28396,
"gene_symbol": "TMEM67",
"hgvs_c": "c.1126_1128delCAAinsGAG",
"hgvs_p": "p.Gln376Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_153704.6",
"protein_coding": true,
"protein_id": "ENSP00000389998.3",
"strand": true,
"transcript": "ENST00000453321.8",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 956,
"aa_ref": "Q",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2871,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 2871,
"cds_start": 1126,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000452276.6",
"gene_hgnc_id": 28396,
"gene_symbol": "TMEM67",
"hgvs_c": "c.1126_1128delCAAinsGAG",
"hgvs_p": "p.Gln376Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388671.2",
"strand": true,
"transcript": "ENST00000452276.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1986,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000474944.5",
"gene_hgnc_id": 28396,
"gene_symbol": "TMEM67",
"hgvs_c": "n.427-3768_427-3766delCAAinsGAG",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000474944.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1036,
"aa_ref": "Q",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3556,
"cdna_start": 1131,
"cds_end": null,
"cds_length": 3111,
"cds_start": 1126,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000520680.2",
"gene_hgnc_id": 28396,
"gene_symbol": "TMEM67",
"hgvs_c": "c.1126_1128delCAAinsGAG",
"hgvs_p": "p.Gln376Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428785.2",
"strand": true,
"transcript": "ENST00000520680.2",
"transcript_support_level": 3
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 980,
"aa_ref": "Q",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3285,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 2943,
"cds_start": 1126,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409623.8",
"gene_hgnc_id": 28396,
"gene_symbol": "TMEM67",
"hgvs_c": "c.1126_1128delCAAinsGAG",
"hgvs_p": "p.Gln376Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386966.4",
"strand": true,
"transcript": "ENST00000409623.8",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 962,
"aa_ref": "Q",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2889,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 2889,
"cds_start": 1126,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000521517.6",
"gene_hgnc_id": 28396,
"gene_symbol": "TMEM67",
"hgvs_c": "c.1126_1128delCAAinsGAG",
"hgvs_p": "p.Gln376Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430740.2",
"strand": true,
"transcript": "ENST00000521517.6",
"transcript_support_level": 5
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 914,
"aa_ref": "Q",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4657,
"cdna_start": 1128,
"cds_end": null,
"cds_length": 2745,
"cds_start": 883,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001142301.1",
"gene_hgnc_id": 28396,
"gene_symbol": "TMEM67",
"hgvs_c": "c.883_885delCAAinsGAG",
"hgvs_p": "p.Gln295Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135773.1",
"strand": true,
"transcript": "NM_001142301.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 892,
"aa_ref": "Q",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4134,
"cdna_start": 1087,
"cds_end": null,
"cds_length": 2679,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684064.1",
"gene_hgnc_id": 28396,
"gene_symbol": "TMEM67",
"hgvs_c": "c.817_819delCAAinsGAG",
"hgvs_p": "p.Gln273Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508192.1",
"strand": true,
"transcript": "ENST00000684064.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 882,
"aa_ref": "Q",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3855,
"cdna_start": 808,
"cds_end": null,
"cds_length": 2649,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683362.1",
"gene_hgnc_id": 28396,
"gene_symbol": "TMEM67",
"hgvs_c": "c.787_789delCAAinsGAG",
"hgvs_p": "p.Gln263Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506985.1",
"strand": true,
"transcript": "ENST00000683362.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 894,
"aa_ref": "Q",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4589,
"cdna_start": 1058,
"cds_end": null,
"cds_length": 2685,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006716686.5",
"gene_hgnc_id": 28396,
"gene_symbol": "TMEM67",
"hgvs_c": "c.823_825delCAAinsGAG",
"hgvs_p": "p.Gln275Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716749.1",
"strand": true,
"transcript": "XM_006716686.5",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 777,
"aa_ref": "Q",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4025,
"cdna_start": 494,
"cds_end": null,
"cds_length": 2334,
"cds_start": 472,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047422409.1",
"gene_hgnc_id": 28396,
"gene_symbol": "TMEM67",
"hgvs_c": "c.472_474delCAAinsGAG",
"hgvs_p": "p.Gln158Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278365.1",
"strand": true,
"transcript": "XM_047422409.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 742,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3442,
"cdna_start": null,
"cds_end": null,
"cds_length": 2229,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682036.1",
"gene_hgnc_id": 28396,
"gene_symbol": "TMEM67",
"hgvs_c": "c.407-3768_407-3766delCAAinsGAG",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508390.1",
"strand": true,
"transcript": "ENST00000682036.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 701,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": null,
"cds_end": null,
"cds_length": 2106,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000453906.6",
"gene_hgnc_id": 28396,
"gene_symbol": "TMEM67",
"hgvs_c": "c.407-3768_407-3766delCAAinsGAG",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403035.2",
"strand": true,
"transcript": "ENST00000453906.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 701,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3796,
"cdna_start": null,
"cds_end": null,
"cds_length": 2106,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011517363.4",
"gene_hgnc_id": 28396,
"gene_symbol": "TMEM67",
"hgvs_c": "c.407-3768_407-3766delCAAinsGAG",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515665.1",
"strand": true,
"transcript": "XM_011517363.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 600,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3707,
"cdna_start": null,
"cds_end": null,
"cds_length": 1803,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047422410.1",
"gene_hgnc_id": 28396,
"gene_symbol": "TMEM67",
"hgvs_c": "c.104-3768_104-3766delCAAinsGAG",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278366.1",
"strand": true,
"transcript": "XM_047422410.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3296,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000323130.8",
"gene_hgnc_id": 28396,
"gene_symbol": "TMEM67",
"hgvs_c": "n.1126_1128delCAAinsGAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000314488.4",
"strand": true,
"transcript": "ENST00000323130.8",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3978,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000681998.1",
"gene_hgnc_id": 28396,
"gene_symbol": "TMEM67",
"hgvs_c": "n.*353_*355delCAAinsGAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506773.1",
"strand": true,
"transcript": "ENST00000681998.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3965,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000682577.1",
"gene_hgnc_id": 28396,
"gene_symbol": "TMEM67",
"hgvs_c": "n.*462_*464delCAAinsGAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000506963.1",
"strand": true,
"transcript": "ENST00000682577.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3254,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000682624.1",
"gene_hgnc_id": 28396,
"gene_symbol": "TMEM67",
"hgvs_c": "n.*700_*702delCAAinsGAG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508343.1",
"strand": true,
"transcript": "ENST00000682624.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3219,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 29,
"exon_rank": 11,
"exon_rank_end": null,
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