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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: 6-43512765-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43512765&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "YIPF3",
"hgnc_id": 21023,
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Arg259His",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_015388.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "POLR1C",
"hgnc_id": 20194,
"hgvs_c": "c.-97+2957C>T",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000428025.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 114,
"alphamissense_prediction": null,
"alphamissense_score": 0.8964,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0,
"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": "Uncertain_significance",
"computational_score_selected": 0.5278400182723999,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 350,
"aa_ref": "R",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1507,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1053,
"cds_start": 776,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_015388.4",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Arg259His",
"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": "H",
"aa_end": null,
"aa_length": 350,
"aa_ref": "R",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1507,
"cdna_start": 895,
"cds_end": null,
"cds_length": 1053,
"cds_start": 776,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000372422.7",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Arg259His",
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1674,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000460547.6",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "n.*1057G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000421053.1",
"strand": false,
"transcript": "ENST00000460547.6",
"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": 1674,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000460547.6",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "n.*1057G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000421053.1",
"strand": false,
"transcript": "ENST00000460547.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 383,
"aa_ref": "R",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1553,
"cdna_start": 960,
"cds_end": null,
"cds_length": 1152,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000940674.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.875G>A",
"hgvs_p": "p.Arg292His",
"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": "H",
"aa_end": null,
"aa_length": 356,
"aa_ref": "R",
"aa_start": 265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1444,
"cdna_start": 928,
"cds_end": null,
"cds_length": 1071,
"cds_start": 794,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000506469.5",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265His",
"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": "H",
"aa_end": null,
"aa_length": 354,
"aa_ref": "R",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1549,
"cdna_start": 934,
"cds_end": null,
"cds_length": 1065,
"cds_start": 788,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882376.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.788G>A",
"hgvs_p": "p.Arg263His",
"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": "H",
"aa_end": null,
"aa_length": 343,
"aa_ref": "R",
"aa_start": 252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1515,
"cdna_start": 893,
"cds_end": null,
"cds_length": 1032,
"cds_start": 755,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882377.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.755G>A",
"hgvs_p": "p.Arg252His",
"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": "H",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1463,
"cdna_start": 852,
"cds_end": null,
"cds_length": 996,
"cds_start": 719,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000940668.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.719G>A",
"hgvs_p": "p.Arg240His",
"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": "H",
"aa_end": null,
"aa_length": 320,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1410,
"cdna_start": 798,
"cds_end": null,
"cds_length": 963,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000940670.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.686G>A",
"hgvs_p": "p.Arg229His",
"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": "H",
"aa_end": null,
"aa_length": 319,
"aa_ref": "R",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1433,
"cdna_start": 821,
"cds_end": null,
"cds_length": 960,
"cds_start": 683,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882379.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.683G>A",
"hgvs_p": "p.Arg228His",
"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": "H",
"aa_end": null,
"aa_length": 311,
"aa_ref": "R",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1417,
"cdna_start": 801,
"cds_end": null,
"cds_length": 936,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882378.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.659G>A",
"hgvs_p": "p.Arg220His",
"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": "H",
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"aa_length": 309,
"aa_ref": "R",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1377,
"cdna_start": 765,
"cds_end": null,
"cds_length": 930,
"cds_start": 653,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000952244.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.653G>A",
"hgvs_p": "p.Arg218His",
"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": "H",
"aa_end": null,
"aa_length": 306,
"aa_ref": "R",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1394,
"cdna_start": 782,
"cds_end": null,
"cds_length": 921,
"cds_start": 644,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882380.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Arg215His",
"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": "H",
"aa_end": null,
"aa_length": 299,
"aa_ref": "R",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1346,
"cdna_start": 737,
"cds_end": null,
"cds_length": 900,
"cds_start": 623,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000940671.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.623G>A",
"hgvs_p": "p.Arg208His",
"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": "H",
"aa_end": null,
"aa_length": 296,
"aa_ref": "R",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1404,
"cdna_start": 792,
"cds_end": null,
"cds_length": 891,
"cds_start": 614,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000882375.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.614G>A",
"hgvs_p": "p.Arg205His",
"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": "H",
"aa_end": null,
"aa_length": 281,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1293,
"cdna_start": 683,
"cds_end": null,
"cds_length": 846,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000952245.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.569G>A",
"hgvs_p": "p.Arg190His",
"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": "H",
"aa_end": null,
"aa_length": 261,
"aa_ref": "R",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 933,
"cdna_start": 820,
"cds_end": null,
"cds_length": 787,
"cds_start": 674,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000503972.5",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.674G>A",
"hgvs_p": "p.Arg225His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421461.1",
"strand": false,
"transcript": "ENST00000503972.5",
"transcript_support_level": 5
},
{
"aa_alt": "H",
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"aa_length": 250,
"aa_ref": "R",
"aa_start": 159,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1188,
"cdna_start": 595,
"cds_end": null,
"cds_length": 753,
"cds_start": 476,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000940673.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.476G>A",
"hgvs_p": "p.Arg159His",
"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": "H",
"aa_end": null,
"aa_length": 315,
"aa_ref": "R",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1833,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 948,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047418608.1",
"gene_hgnc_id": 21023,
"gene_symbol": "YIPF3",
"hgvs_c": "c.671G>A",
"hgvs_p": "p.Arg224His",
"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": 312,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1384,
"cdna_start": null,
"cds_end": null,
"cds_length": 939,
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