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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: 2-24820051-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=24820051&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 24820051,
"ref": "TG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000679454.1",
"consequences": [
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3315delC",
"hgvs_p": "p.Ile1106fs",
"transcript": "NM_004036.5",
"protein_id": "NP_004027.2",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3315,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 4067,
"cdna_end": null,
"cdna_length": 4950,
"mane_select": "ENST00000679454.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3315delC",
"hgvs_p": "p.Ile1106fs",
"transcript": "ENST00000679454.1",
"protein_id": "ENSP00000505261.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3315,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 4067,
"cdna_end": null,
"cdna_length": 4950,
"mane_select": "NM_004036.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3318delC",
"hgvs_p": "p.Ile1107fs",
"transcript": "ENST00000405392.6",
"protein_id": "ENSP00000384484.2",
"transcript_support_level": 1,
"aa_start": 1106,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3318,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 3318,
"cdna_end": null,
"cdna_length": 4182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3315delC",
"hgvs_p": "p.Ile1106fs",
"transcript": "ENST00000260600.9",
"protein_id": "ENSP00000260600.5",
"transcript_support_level": 1,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3315,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 4167,
"cdna_end": null,
"cdna_length": 5050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPO",
"gene_hgnc_id": 28152,
"hgvs_c": "c.*737delG",
"hgvs_p": null,
"transcript": "NM_001322101.2",
"protein_id": "NP_001309030.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": -4,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4106,
"mane_select": "ENST00000380834.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPO",
"gene_hgnc_id": 28152,
"hgvs_c": "c.*737delG",
"hgvs_p": null,
"transcript": "ENST00000380834.7",
"protein_id": "ENSP00000370214.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": -4,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4106,
"mane_select": "NM_001322101.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CENPO",
"gene_hgnc_id": 28152,
"hgvs_c": "c.*737delG",
"hgvs_p": null,
"transcript": "ENST00000260662.2",
"protein_id": "ENSP00000260662.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": -4,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3381delC",
"hgvs_p": "p.Ile1128fs",
"transcript": "NM_001377128.1",
"protein_id": "NP_001364057.1",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1166,
"cds_start": 3381,
"cds_end": null,
"cds_length": 3501,
"cdna_start": 4133,
"cdna_end": null,
"cdna_length": 5016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3318delC",
"hgvs_p": "p.Ile1107fs",
"transcript": "NM_001320613.2",
"protein_id": "NP_001307542.1",
"transcript_support_level": null,
"aa_start": 1106,
"aa_end": null,
"aa_length": 1145,
"cds_start": 3318,
"cds_end": null,
"cds_length": 3438,
"cdna_start": 4070,
"cdna_end": null,
"cdna_length": 4953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3315delC",
"hgvs_p": "p.Ile1106fs",
"transcript": "NM_001377132.1",
"protein_id": "NP_001364061.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1144,
"cds_start": 3315,
"cds_end": null,
"cds_length": 3435,
"cdna_start": 3624,
"cdna_end": null,
"cdna_length": 4507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3177delC",
"hgvs_p": "p.Ile1060fs",
"transcript": "NM_001377129.1",
"protein_id": "NP_001364058.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1098,
"cds_start": 3177,
"cds_end": null,
"cds_length": 3297,
"cdna_start": 3929,
"cdna_end": null,
"cdna_length": 4812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.2592delC",
"hgvs_p": "p.Ile865fs",
"transcript": "NM_001377131.1",
"protein_id": "NP_001364060.1",
"transcript_support_level": null,
"aa_start": 864,
"aa_end": null,
"aa_length": 903,
"cds_start": 2592,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 2730,
"cdna_end": null,
"cdna_length": 3613,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.2256delC",
"hgvs_p": "p.Ile753fs",
"transcript": "ENST00000606682.5",
"protein_id": "ENSP00000475652.1",
"transcript_support_level": 2,
"aa_start": 752,
"aa_end": null,
"aa_length": 791,
"cds_start": 2256,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2256,
"cdna_end": null,
"cdna_length": 3136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3441delC",
"hgvs_p": "p.Ile1148fs",
"transcript": "XM_011532489.2",
"protein_id": "XP_011530791.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3441,
"cds_end": null,
"cds_length": 3561,
"cdna_start": 4193,
"cdna_end": null,
"cdna_length": 5076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3438delC",
"hgvs_p": "p.Ile1147fs",
"transcript": "XM_011532490.2",
"protein_id": "XP_011530792.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1185,
"cds_start": 3438,
"cds_end": null,
"cds_length": 3558,
"cdna_start": 4190,
"cdna_end": null,
"cdna_length": 5073,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3384delC",
"hgvs_p": "p.Ile1129fs",
"transcript": "XM_006711925.2",
"protein_id": "XP_006711988.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 1167,
"cds_start": 3384,
"cds_end": null,
"cds_length": 3504,
"cdna_start": 4136,
"cdna_end": null,
"cdna_length": 5019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3375delC",
"hgvs_p": "p.Ile1126fs",
"transcript": "XM_011532491.2",
"protein_id": "XP_011530793.1",
"transcript_support_level": null,
"aa_start": 1125,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3375,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 4127,
"cdna_end": null,
"cdna_length": 5010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3372delC",
"hgvs_p": "p.Ile1125fs",
"transcript": "XM_017003187.2",
"protein_id": "XP_016858676.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3372,
"cds_end": null,
"cds_length": 3492,
"cdna_start": 4124,
"cdna_end": null,
"cdna_length": 5007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3303delC",
"hgvs_p": "p.Ile1102fs",
"transcript": "XM_011532493.2",
"protein_id": "XP_011530795.1",
"transcript_support_level": null,
"aa_start": 1101,
"aa_end": null,
"aa_length": 1140,
"cds_start": 3303,
"cds_end": null,
"cds_length": 3423,
"cdna_start": 4055,
"cdna_end": null,
"cdna_length": 4938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3300delC",
"hgvs_p": "p.Ile1101fs",
"transcript": "XM_017003189.2",
"protein_id": "XP_016858678.1",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1139,
"cds_start": 3300,
"cds_end": null,
"cds_length": 3420,
"cdna_start": 4052,
"cdna_end": null,
"cdna_length": 4935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3243delC",
"hgvs_p": "p.Ile1082fs",
"transcript": "XM_011532494.2",
"protein_id": "XP_011530796.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1120,
"cds_start": 3243,
"cds_end": null,
"cds_length": 3363,
"cdna_start": 3995,
"cdna_end": null,
"cdna_length": 4878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.3234delC",
"hgvs_p": "p.Ile1079fs",
"transcript": "XM_047443008.1",
"protein_id": "XP_047298964.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1117,
"cds_start": 3234,
"cds_end": null,
"cds_length": 3354,
"cdna_start": 3986,
"cdna_end": null,
"cdna_length": 4869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"hgvs_c": "c.2805delC",
"hgvs_p": "p.Ile936fs",
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1002,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADCY3",
"gene_hgnc_id": 234,
"dbsnp": "rs1553329804",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.135,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000679454.1",
"gene_symbol": "ADCY3",
"hgnc_id": 234,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3315delC",
"hgvs_p": "p.Ile1106fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000380834.7",
"gene_symbol": "CENPO",
"hgnc_id": 28152,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*737delG",
"hgvs_p": null
}
],
"clinvar_disease": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19",
"clinvar_classification": "risk factor",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19",
"pathogenicity_classification_combined": "risk factor",
"custom_annotations": null
}
],
"message": null
}