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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: 6-43512196-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43512196&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "YIPF3",
"hgnc_id": 21023,
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Ala342Thr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_015388.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "POLR1C",
"hgnc_id": 20194,
"hgvs_c": "c.-97+2388C>T",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000428025.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 60,
"alphamissense_prediction": null,
"alphamissense_score": 0.0828,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "6",
"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": 0.02017313241958618,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 350,
"aa_ref": "A",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1507,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1053,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_015388.4",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Ala342Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372422.7",
"protein_coding": true,
"protein_id": "NP_056203.2",
"strand": false,
"transcript": "NM_015388.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 350,
"aa_ref": "A",
"aa_start": 342,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1507,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1053,
"cds_start": 1024,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000372422.7",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.1024G>A",
"hgvs_p": "p.Ala342Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015388.4",
"protein_coding": true,
"protein_id": "ENSP00000361499.2",
"strand": false,
"transcript": "ENST00000372422.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 383,
"aa_ref": "A",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1553,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 1152,
"cds_start": 1123,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000940674.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.1123G>A",
"hgvs_p": "p.Ala375Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610733.1",
"strand": false,
"transcript": "ENST00000940674.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 356,
"aa_ref": "A",
"aa_start": 348,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1444,
"cdna_start": 1176,
"cds_end": null,
"cds_length": 1071,
"cds_start": 1042,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000506469.5",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.1042G>A",
"hgvs_p": "p.Ala348Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425494.1",
"strand": false,
"transcript": "ENST00000506469.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 354,
"aa_ref": "A",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1549,
"cdna_start": 1182,
"cds_end": null,
"cds_length": 1065,
"cds_start": 1036,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000882376.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.1036G>A",
"hgvs_p": "p.Ala346Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552435.1",
"strand": false,
"transcript": "ENST00000882376.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 343,
"aa_ref": "A",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1515,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 1032,
"cds_start": 1003,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000882377.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.1003G>A",
"hgvs_p": "p.Ala335Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552436.1",
"strand": false,
"transcript": "ENST00000882377.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 331,
"aa_ref": "A",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1463,
"cdna_start": 1100,
"cds_end": null,
"cds_length": 996,
"cds_start": 967,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000940668.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.967G>A",
"hgvs_p": "p.Ala323Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610727.1",
"strand": false,
"transcript": "ENST00000940668.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 320,
"aa_ref": "A",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1410,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 963,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000940670.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Ala312Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610729.1",
"strand": false,
"transcript": "ENST00000940670.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 319,
"aa_ref": "A",
"aa_start": 311,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1433,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 960,
"cds_start": 931,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000882379.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.931G>A",
"hgvs_p": "p.Ala311Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552438.1",
"strand": false,
"transcript": "ENST00000882379.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 312,
"aa_ref": "A",
"aa_start": 304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1384,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 939,
"cds_start": 910,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000940672.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.910G>A",
"hgvs_p": "p.Ala304Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610731.1",
"strand": false,
"transcript": "ENST00000940672.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 311,
"aa_ref": "A",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1417,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 936,
"cds_start": 907,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000882378.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.907G>A",
"hgvs_p": "p.Ala303Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552437.1",
"strand": false,
"transcript": "ENST00000882378.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 309,
"aa_ref": "A",
"aa_start": 301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1377,
"cdna_start": 1013,
"cds_end": null,
"cds_length": 930,
"cds_start": 901,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000952244.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.901G>A",
"hgvs_p": "p.Ala301Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622303.1",
"strand": false,
"transcript": "ENST00000952244.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 306,
"aa_ref": "A",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1394,
"cdna_start": 1030,
"cds_end": null,
"cds_length": 921,
"cds_start": 892,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000882380.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.892G>A",
"hgvs_p": "p.Ala298Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552439.1",
"strand": false,
"transcript": "ENST00000882380.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 299,
"aa_ref": "A",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1346,
"cdna_start": 985,
"cds_end": null,
"cds_length": 900,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000940671.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.871G>A",
"hgvs_p": "p.Ala291Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610730.1",
"strand": false,
"transcript": "ENST00000940671.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 296,
"aa_ref": "A",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1404,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 891,
"cds_start": 862,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000882375.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.862G>A",
"hgvs_p": "p.Ala288Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552434.1",
"strand": false,
"transcript": "ENST00000882375.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 281,
"aa_ref": "A",
"aa_start": 273,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1293,
"cdna_start": 931,
"cds_end": null,
"cds_length": 846,
"cds_start": 817,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000952245.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.817G>A",
"hgvs_p": "p.Ala273Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622304.1",
"strand": false,
"transcript": "ENST00000952245.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 250,
"aa_ref": "A",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1188,
"cdna_start": 843,
"cds_end": null,
"cds_length": 753,
"cds_start": 724,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000940673.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Ala242Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610732.1",
"strand": false,
"transcript": "ENST00000940673.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 61,
"aa_ref": "A",
"aa_start": 53,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 651,
"cdna_start": 276,
"cds_end": null,
"cds_length": 186,
"cds_start": 157,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000940669.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.157G>A",
"hgvs_p": "p.Ala53Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610728.1",
"strand": false,
"transcript": "ENST00000940669.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 315,
"aa_ref": "A",
"aa_start": 307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": 1469,
"cds_end": null,
"cds_length": 948,
"cds_start": 919,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047418608.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.919G>A",
"hgvs_p": "p.Ala307Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047274564.1",
"strand": false,
"transcript": "XM_047418608.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 291,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1221,
"cdna_start": null,
"cds_end": null,
"cds_length": 876,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000646188.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.-225-789C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496001.1",
"strand": true,
"transcript": "ENST00000646188.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 123,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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}