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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: 2-162073412-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=162073412&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DPP4",
"hgnc_id": 3009,
"hgvs_c": "c.81G>C",
"hgvs_p": "p.Leu27Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_001935.4",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"gene_symbol": "DPP4-DT",
"hgnc_id": 40191,
"hgvs_c": "n.83C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000418335.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 766,
"aa_ref": "L",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3573,
"cdna_start": 315,
"cds_end": null,
"cds_length": 2301,
"cds_start": 81,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001935.4",
"gene_hgnc_id": 3009,
"gene_symbol": "DPP4",
"hgvs_c": "c.81G>C",
"hgvs_p": "p.Leu27Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360534.8",
"protein_coding": true,
"protein_id": "NP_001926.2",
"strand": false,
"transcript": "NM_001935.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 766,
"aa_ref": "L",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3573,
"cdna_start": 315,
"cds_end": null,
"cds_length": 2301,
"cds_start": 81,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000360534.8",
"gene_hgnc_id": 3009,
"gene_symbol": "DPP4",
"hgvs_c": "c.81G>C",
"hgvs_p": "p.Leu27Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001935.4",
"protein_coding": true,
"protein_id": "ENSP00000353731.3",
"strand": false,
"transcript": "ENST00000360534.8",
"transcript_support_level": 1
},
{
"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": 2674,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000434918.6",
"gene_hgnc_id": 3009,
"gene_symbol": "DPP4",
"hgvs_c": "n.81G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000402259.2",
"strand": false,
"transcript": "ENST00000434918.6",
"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": 1464,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000461836.6",
"gene_hgnc_id": 3009,
"gene_symbol": "DPP4",
"hgvs_c": "n.562G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000461836.6",
"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": 781,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000497461.5",
"gene_hgnc_id": 3009,
"gene_symbol": "DPP4",
"hgvs_c": "n.185G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000497461.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 765,
"aa_ref": "L",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3570,
"cdna_start": 315,
"cds_end": null,
"cds_length": 2298,
"cds_start": 81,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001379604.1",
"gene_hgnc_id": 3009,
"gene_symbol": "DPP4",
"hgvs_c": "c.81G>C",
"hgvs_p": "p.Leu27Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366533.1",
"strand": false,
"transcript": "NM_001379604.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 765,
"aa_ref": "L",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3749,
"cdna_start": 494,
"cds_end": null,
"cds_length": 2298,
"cds_start": 81,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000676810.1",
"gene_hgnc_id": 3009,
"gene_symbol": "DPP4",
"hgvs_c": "c.81G>C",
"hgvs_p": "p.Leu27Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503161.1",
"strand": false,
"transcript": "ENST00000676810.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 764,
"aa_ref": "L",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3567,
"cdna_start": 315,
"cds_end": null,
"cds_length": 2295,
"cds_start": 81,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001379605.1",
"gene_hgnc_id": 3009,
"gene_symbol": "DPP4",
"hgvs_c": "c.81G>C",
"hgvs_p": "p.Leu27Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366534.1",
"strand": false,
"transcript": "NM_001379605.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 764,
"aa_ref": "L",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3355,
"cdna_start": 102,
"cds_end": null,
"cds_length": 2295,
"cds_start": 81,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000881343.1",
"gene_hgnc_id": 3009,
"gene_symbol": "DPP4",
"hgvs_c": "c.81G>C",
"hgvs_p": "p.Leu27Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551402.1",
"strand": false,
"transcript": "ENST00000881343.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 748,
"aa_ref": "L",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3519,
"cdna_start": 315,
"cds_end": null,
"cds_length": 2247,
"cds_start": 81,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001379606.1",
"gene_hgnc_id": 3009,
"gene_symbol": "DPP4",
"hgvs_c": "c.81G>C",
"hgvs_p": "p.Leu27Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001366535.1",
"strand": false,
"transcript": "NM_001379606.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 748,
"aa_ref": "L",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3376,
"cdna_start": 174,
"cds_end": null,
"cds_length": 2247,
"cds_start": 81,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000881342.1",
"gene_hgnc_id": 3009,
"gene_symbol": "DPP4",
"hgvs_c": "c.81G>C",
"hgvs_p": "p.Leu27Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551401.1",
"strand": false,
"transcript": "ENST00000881342.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 734,
"aa_ref": "L",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3623,
"cdna_start": 153,
"cds_end": null,
"cds_length": 2205,
"cds_start": 81,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000676768.1",
"gene_hgnc_id": 3009,
"gene_symbol": "DPP4",
"hgvs_c": "c.81G>C",
"hgvs_p": "p.Leu27Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503008.1",
"strand": false,
"transcript": "ENST00000676768.1",
"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": 578,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000413651.3",
"gene_hgnc_id": 3009,
"gene_symbol": "DPP4",
"hgvs_c": "n.81G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000410264.1",
"strand": false,
"transcript": "ENST00000413651.3",
"transcript_support_level": 4
},
{
"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": 2737,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000416189.6",
"gene_hgnc_id": 3009,
"gene_symbol": "DPP4",
"hgvs_c": "n.81G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000401359.2",
"strand": false,
"transcript": "ENST00000416189.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 640,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000418335.1",
"gene_hgnc_id": 40191,
"gene_symbol": "DPP4-DT",
"hgvs_c": "n.83C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000418335.1",
"transcript_support_level": 3
},
{
"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": 2241,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000490286.5",
"gene_hgnc_id": 3009,
"gene_symbol": "DPP4",
"hgvs_c": "n.75G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000490286.5",
"transcript_support_level": 5
},
{
"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": 3045,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000494507.2",
"gene_hgnc_id": 3009,
"gene_symbol": "DPP4",
"hgvs_c": "n.81G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503735.1",
"strand": false,
"transcript": "ENST00000494507.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1167,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000670014.2",
"gene_hgnc_id": 40191,
"gene_symbol": "DPP4-DT",
"hgvs_c": "n.3C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000670014.2",
"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": 3551,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000676479.1",
"gene_hgnc_id": 3009,
"gene_symbol": "DPP4",
"hgvs_c": "n.217G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000504273.1",
"strand": false,
"transcript": "ENST00000676479.1",
"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": 3433,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000676624.1",
"gene_hgnc_id": 3009,
"gene_symbol": "DPP4",
"hgvs_c": "n.81G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000503481.1",
"strand": false,
"transcript": "ENST00000676624.1",
"transcript_support_level": null
},
{
"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": 3433,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
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