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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: 7-34947662-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=34947662&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DPY19L1",
"hgnc_id": 22205,
"hgvs_c": "c.1462G>A",
"hgvs_p": "p.Val488Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001366673.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000294671",
"hgnc_id": null,
"hgvs_c": "n.396+2526C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000725150.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC102724723",
"hgnc_id": null,
"hgvs_c": "n.173-767C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "XR_001745166.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 14,
"alphamissense_prediction": null,
"alphamissense_score": 0.102,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.31014201045036316,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 748,
"aa_ref": "V",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5030,
"cdna_start": 1553,
"cds_end": null,
"cds_length": 2247,
"cds_start": 1462,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001366673.1",
"gene_hgnc_id": 22205,
"gene_symbol": "DPY19L1",
"hgvs_c": "c.1462G>A",
"hgvs_p": "p.Val488Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000638088.2",
"protein_coding": true,
"protein_id": "NP_001353602.1",
"strand": false,
"transcript": "NM_001366673.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 748,
"aa_ref": "V",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5030,
"cdna_start": 1553,
"cds_end": null,
"cds_length": 2247,
"cds_start": 1462,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000638088.2",
"gene_hgnc_id": 22205,
"gene_symbol": "DPY19L1",
"hgvs_c": "c.1462G>A",
"hgvs_p": "p.Val488Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001366673.1",
"protein_coding": true,
"protein_id": "ENSP00000490722.1",
"strand": false,
"transcript": "ENST00000638088.2",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 675,
"aa_ref": "V",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4870,
"cdna_start": 1388,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1243,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000310974.8",
"gene_hgnc_id": 22205,
"gene_symbol": "DPY19L1",
"hgvs_c": "c.1243G>A",
"hgvs_p": "p.Val415Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000308695.4",
"strand": false,
"transcript": "ENST00000310974.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 402,
"aa_ref": "V",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5492,
"cdna_start": 426,
"cds_end": null,
"cds_length": 1209,
"cds_start": 424,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000612226.2",
"gene_hgnc_id": 22205,
"gene_symbol": "DPY19L1",
"hgvs_c": "c.424G>A",
"hgvs_p": "p.Val142Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478865.2",
"strand": false,
"transcript": "ENST00000612226.2",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 806,
"aa_ref": "V",
"aa_start": 546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5166,
"cdna_start": 1695,
"cds_end": null,
"cds_length": 2421,
"cds_start": 1636,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000944847.1",
"gene_hgnc_id": 22205,
"gene_symbol": "DPY19L1",
"hgvs_c": "c.1636G>A",
"hgvs_p": "p.Val546Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614906.1",
"strand": false,
"transcript": "ENST00000944847.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 779,
"aa_ref": "V",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2558,
"cdna_start": 1599,
"cds_end": null,
"cds_length": 2340,
"cds_start": 1555,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000944849.1",
"gene_hgnc_id": 22205,
"gene_symbol": "DPY19L1",
"hgvs_c": "c.1555G>A",
"hgvs_p": "p.Val519Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614908.1",
"strand": false,
"transcript": "ENST00000944849.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 758,
"aa_ref": "V",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5066,
"cdna_start": 1559,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1462,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000928159.1",
"gene_hgnc_id": 22205,
"gene_symbol": "DPY19L1",
"hgvs_c": "c.1462G>A",
"hgvs_p": "p.Val488Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598218.1",
"strand": false,
"transcript": "ENST00000928159.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 748,
"aa_ref": "V",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": 1550,
"cds_end": null,
"cds_length": 2247,
"cds_start": 1462,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000944845.1",
"gene_hgnc_id": 22205,
"gene_symbol": "DPY19L1",
"hgvs_c": "c.1462G>A",
"hgvs_p": "p.Val488Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614904.1",
"strand": false,
"transcript": "ENST00000944845.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 708,
"aa_ref": "V",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4819,
"cdna_start": 1468,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1462,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000944848.1",
"gene_hgnc_id": 22205,
"gene_symbol": "DPY19L1",
"hgvs_c": "c.1462G>A",
"hgvs_p": "p.Val488Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614907.1",
"strand": false,
"transcript": "ENST00000944848.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 684,
"aa_ref": "V",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4865,
"cdna_start": 1390,
"cds_end": null,
"cds_length": 2055,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000944846.1",
"gene_hgnc_id": 22205,
"gene_symbol": "DPY19L1",
"hgvs_c": "c.1270G>A",
"hgvs_p": "p.Val424Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614905.1",
"strand": false,
"transcript": "ENST00000944846.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 675,
"aa_ref": "V",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4865,
"cdna_start": 1388,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1243,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_015283.2",
"gene_hgnc_id": 22205,
"gene_symbol": "DPY19L1",
"hgvs_c": "c.1243G>A",
"hgvs_p": "p.Val415Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_056098.1",
"strand": false,
"transcript": "NM_015283.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 669,
"aa_ref": "V",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6292,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 2010,
"cds_start": 1225,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000690666.1",
"gene_hgnc_id": 22205,
"gene_symbol": "DPY19L1",
"hgvs_c": "c.1225G>A",
"hgvs_p": "p.Val409Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508728.1",
"strand": false,
"transcript": "ENST00000690666.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 629,
"aa_ref": "V",
"aa_start": 369,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2125,
"cdna_start": 1206,
"cds_end": null,
"cds_length": 1890,
"cds_start": 1105,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000928160.1",
"gene_hgnc_id": 22205,
"gene_symbol": "DPY19L1",
"hgvs_c": "c.1105G>A",
"hgvs_p": "p.Val369Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598219.1",
"strand": false,
"transcript": "ENST00000928160.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 614,
"aa_ref": "V",
"aa_start": 354,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6127,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1060,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000685246.1",
"gene_hgnc_id": 22205,
"gene_symbol": "DPY19L1",
"hgvs_c": "c.1060G>A",
"hgvs_p": "p.Val354Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509303.1",
"strand": false,
"transcript": "ENST00000685246.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 205,
"aa_ref": "V",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 619,
"cdna_start": 553,
"cds_end": null,
"cds_length": 619,
"cds_start": 553,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000446375.1",
"gene_hgnc_id": 22205,
"gene_symbol": "DPY19L1",
"hgvs_c": "c.553G>A",
"hgvs_p": "p.Val185Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400510.1",
"strand": false,
"transcript": "ENST00000446375.1",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 719,
"aa_ref": "V",
"aa_start": 459,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4943,
"cdna_start": 1466,
"cds_end": null,
"cds_length": 2160,
"cds_start": 1375,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011515246.4",
"gene_hgnc_id": 22205,
"gene_symbol": "DPY19L1",
"hgvs_c": "c.1375G>A",
"hgvs_p": "p.Val459Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011513548.1",
"strand": false,
"transcript": "XM_011515246.4",
"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": 5448,
"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": "ENST00000688296.1",
"gene_hgnc_id": 22205,
"gene_symbol": "DPY19L1",
"hgvs_c": "n.382G>A",
"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": "ENST00000688296.1",
"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": 6148,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000690503.1",
"gene_hgnc_id": 22205,
"gene_symbol": "DPY19L1",
"hgvs_c": "n.*627G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000509349.1",
"strand": false,
"transcript": "ENST00000690503.1",
"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": 6148,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000690503.1",
"gene_hgnc_id": 22205,
"gene_symbol": "DPY19L1",
"hgvs_c": "n.*627G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000509349.1",
"strand": false,
"transcript": "ENST00000690503.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 685,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000725150.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000294671",
"hgvs_c": "n.396+2526C>T",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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