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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: 11-74253493-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=74253493&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "PPME1",
"hgnc_id": 30178,
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Val396Met",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_001271593.2",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "P4HA3",
"hgnc_id": 30135,
"hgvs_c": "n.*1319-5492C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "ENST00000524388.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 27,
"alphamissense_prediction": null,
"alphamissense_score": 0.2446,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "11",
"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": 0.15410718321800232,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 386,
"aa_ref": "V",
"aa_start": 382,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": 1277,
"cds_end": null,
"cds_length": 1161,
"cds_start": 1144,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_016147.3",
"gene_hgnc_id": 30178,
"gene_symbol": "PPME1",
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Val382Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000328257.13",
"protein_coding": true,
"protein_id": "NP_057231.1",
"strand": true,
"transcript": "NM_016147.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 386,
"aa_ref": "V",
"aa_start": 382,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2487,
"cdna_start": 1277,
"cds_end": null,
"cds_length": 1161,
"cds_start": 1144,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000328257.13",
"gene_hgnc_id": 30178,
"gene_symbol": "PPME1",
"hgvs_c": "c.1144G>A",
"hgvs_p": "p.Val382Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016147.3",
"protein_coding": true,
"protein_id": "ENSP00000329867.8",
"strand": true,
"transcript": "ENST00000328257.13",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 400,
"aa_ref": "V",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2496,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1186,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000398427.6",
"gene_hgnc_id": 30178,
"gene_symbol": "PPME1",
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Val396Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381461.4",
"strand": true,
"transcript": "ENST00000398427.6",
"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": 744,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000538501.5",
"gene_hgnc_id": 30178,
"gene_symbol": "PPME1",
"hgvs_c": "n.674G>A",
"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": "ENST00000538501.5",
"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": 3618,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000541340.5",
"gene_hgnc_id": 30178,
"gene_symbol": "PPME1",
"hgvs_c": "n.2408G>A",
"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": "ENST00000541340.5",
"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": 1928,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000543525.3",
"gene_hgnc_id": 30178,
"gene_symbol": "PPME1",
"hgvs_c": "n.718G>A",
"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": "ENST00000543525.3",
"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": 2627,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000524388.5",
"gene_hgnc_id": 30135,
"gene_symbol": "P4HA3",
"hgvs_c": "n.*1319-5492C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000433860.1",
"strand": false,
"transcript": "ENST00000524388.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 442,
"aa_ref": "V",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2861,
"cdna_start": 1651,
"cds_end": null,
"cds_length": 1329,
"cds_start": 1312,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000856423.1",
"gene_hgnc_id": 30178,
"gene_symbol": "PPME1",
"hgvs_c": "c.1312G>A",
"hgvs_p": "p.Val438Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526482.1",
"strand": true,
"transcript": "ENST00000856423.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 440,
"aa_ref": "V",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2604,
"cdna_start": 1398,
"cds_end": null,
"cds_length": 1323,
"cds_start": 1306,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000856427.1",
"gene_hgnc_id": 30178,
"gene_symbol": "PPME1",
"hgvs_c": "c.1306G>A",
"hgvs_p": "p.Val436Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526486.1",
"strand": true,
"transcript": "ENST00000856427.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 418,
"aa_ref": "V",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2577,
"cdna_start": 1367,
"cds_end": null,
"cds_length": 1257,
"cds_start": 1240,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000921188.1",
"gene_hgnc_id": 30178,
"gene_symbol": "PPME1",
"hgvs_c": "c.1240G>A",
"hgvs_p": "p.Val414Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591247.1",
"strand": true,
"transcript": "ENST00000921188.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 400,
"aa_ref": "V",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2529,
"cdna_start": 1319,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1186,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001271593.2",
"gene_hgnc_id": 30178,
"gene_symbol": "PPME1",
"hgvs_c": "c.1186G>A",
"hgvs_p": "p.Val396Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258522.1",
"strand": true,
"transcript": "NM_001271593.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 385,
"aa_ref": "V",
"aa_start": 381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2472,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1158,
"cds_start": 1141,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000856426.1",
"gene_hgnc_id": 30178,
"gene_symbol": "PPME1",
"hgvs_c": "c.1141G>A",
"hgvs_p": "p.Val381Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526485.1",
"strand": true,
"transcript": "ENST00000856426.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 384,
"aa_ref": "V",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2471,
"cdna_start": 1262,
"cds_end": null,
"cds_length": 1155,
"cds_start": 1138,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000856425.1",
"gene_hgnc_id": 30178,
"gene_symbol": "PPME1",
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Val380Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526484.1",
"strand": true,
"transcript": "ENST00000856425.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 384,
"aa_ref": "V",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2516,
"cdna_start": 1307,
"cds_end": null,
"cds_length": 1155,
"cds_start": 1138,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000921187.1",
"gene_hgnc_id": 30178,
"gene_symbol": "PPME1",
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Val380Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591246.1",
"strand": true,
"transcript": "ENST00000921187.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 384,
"aa_ref": "V",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2488,
"cdna_start": 1280,
"cds_end": null,
"cds_length": 1155,
"cds_start": 1138,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000970220.1",
"gene_hgnc_id": 30178,
"gene_symbol": "PPME1",
"hgvs_c": "c.1138G>A",
"hgvs_p": "p.Val380Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640279.1",
"strand": true,
"transcript": "ENST00000970220.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 383,
"aa_ref": "V",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2435,
"cdna_start": 1230,
"cds_end": null,
"cds_length": 1152,
"cds_start": 1135,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000970221.1",
"gene_hgnc_id": 30178,
"gene_symbol": "PPME1",
"hgvs_c": "c.1135G>A",
"hgvs_p": "p.Val379Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640280.1",
"strand": true,
"transcript": "ENST00000970221.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 376,
"aa_ref": "V",
"aa_start": 372,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2474,
"cdna_start": 1264,
"cds_end": null,
"cds_length": 1131,
"cds_start": 1114,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000856424.1",
"gene_hgnc_id": 30178,
"gene_symbol": "PPME1",
"hgvs_c": "c.1114G>A",
"hgvs_p": "p.Val372Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526483.1",
"strand": true,
"transcript": "ENST00000856424.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 366,
"aa_ref": "V",
"aa_start": 362,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2335,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1101,
"cds_start": 1084,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000856428.1",
"gene_hgnc_id": 30178,
"gene_symbol": "PPME1",
"hgvs_c": "c.1084G>A",
"hgvs_p": "p.Val362Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526487.1",
"strand": true,
"transcript": "ENST00000856428.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 364,
"aa_ref": "V",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2432,
"cdna_start": 1225,
"cds_end": null,
"cds_length": 1095,
"cds_start": 1078,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000970219.1",
"gene_hgnc_id": 30178,
"gene_symbol": "PPME1",
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Val360Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640278.1",
"strand": true,
"transcript": "ENST00000970219.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 183,
"aa_ref": "V",
"aa_start": 179,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1803,
"cdna_start": 596,
"cds_end": null,
"cds_length": 552,
"cds_start": 535,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000970222.1",
"gene_hgnc_id": 30178,
"gene_symbol": "PPME1",
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Val179Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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{
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{
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]
}