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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: 6-31954663-T-TGTCTCGATCCCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31954663&ref=T&alt=TGTCTCGATCCCG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP3"
],
"effects": [
"conservative_inframe_insertion"
],
"gene_symbol": "NELFE",
"hgnc_id": 13974,
"hgvs_c": "c.622_633dupCGGGATCGAGAC",
"hgvs_p": "p.Asp211_Arg212insArgAspArgAsp",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_002904.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP3",
"acmg_score": -1,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TGTCTCGATCCCG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "DRDRD",
"aa_end": null,
"aa_length": 380,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1445,
"cdna_start": 721,
"cds_end": null,
"cds_length": 1143,
"cds_start": 633,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_002904.6",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.622_633dupCGGGATCGAGAC",
"hgvs_p": "p.Asp211_Arg212insArgAspArgAsp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000375429.8",
"protein_coding": true,
"protein_id": "NP_002895.3",
"strand": false,
"transcript": "NM_002904.6",
"transcript_support_level": null
},
{
"aa_alt": "DRDRD",
"aa_end": null,
"aa_length": 380,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1445,
"cdna_start": 721,
"cds_end": null,
"cds_length": 1143,
"cds_start": 633,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000375429.8",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.622_633dupCGGGATCGAGAC",
"hgvs_p": "p.Asp211_Arg212insArgAspArgAsp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002904.6",
"protein_coding": true,
"protein_id": "ENSP00000364578.3",
"strand": false,
"transcript": "ENST00000375429.8",
"transcript_support_level": 1
},
{
"aa_alt": "DRDRD",
"aa_end": null,
"aa_length": 387,
"aa_ref": "D",
"aa_start": 218,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1405,
"cdna_start": 823,
"cds_end": null,
"cds_length": 1164,
"cds_start": 654,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000375425.9",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.643_654dupCGGGATCGAGAC",
"hgvs_p": "p.Asp218_Arg219insArgAspArgAsp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364574.5",
"strand": false,
"transcript": "ENST00000375425.9",
"transcript_support_level": 2
},
{
"aa_alt": "DRDRD",
"aa_end": null,
"aa_length": 386,
"aa_ref": "D",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1459,
"cdna_start": 738,
"cds_end": null,
"cds_length": 1161,
"cds_start": 651,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000948308.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.640_651dupCGGGATCGAGAC",
"hgvs_p": "p.Asp217_Arg218insArgAspArgAsp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618367.1",
"strand": false,
"transcript": "ENST00000948308.1",
"transcript_support_level": null
},
{
"aa_alt": "DRDRD",
"aa_end": null,
"aa_length": 385,
"aa_ref": "D",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1463,
"cdna_start": 741,
"cds_end": null,
"cds_length": 1158,
"cds_start": 648,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882598.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.637_648dupCGGGATCGAGAC",
"hgvs_p": "p.Asp216_Arg217insArgAspArgAsp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552657.1",
"strand": false,
"transcript": "ENST00000882598.1",
"transcript_support_level": null
},
{
"aa_alt": "DRDRD",
"aa_end": null,
"aa_length": 380,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1444,
"cdna_start": 720,
"cds_end": null,
"cds_length": 1143,
"cds_start": 633,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882599.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.622_633dupCGGGATCGAGAC",
"hgvs_p": "p.Asp211_Arg212insArgAspArgAsp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552658.1",
"strand": false,
"transcript": "ENST00000882599.1",
"transcript_support_level": null
},
{
"aa_alt": "DRDRD",
"aa_end": null,
"aa_length": 378,
"aa_ref": "D",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1301,
"cdna_start": 720,
"cds_end": null,
"cds_length": 1137,
"cds_start": 627,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882601.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.616_627dupCGGGATCGAGAC",
"hgvs_p": "p.Asp209_Arg210insArgAspArgAsp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552660.1",
"strand": false,
"transcript": "ENST00000882601.1",
"transcript_support_level": null
},
{
"aa_alt": "DRDRD",
"aa_end": null,
"aa_length": 377,
"aa_ref": "D",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1438,
"cdna_start": 714,
"cds_end": null,
"cds_length": 1134,
"cds_start": 624,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000937367.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.613_624dupCGGGATCGAGAC",
"hgvs_p": "p.Asp208_Arg209insArgAspArgAsp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607426.1",
"strand": false,
"transcript": "ENST00000937367.1",
"transcript_support_level": null
},
{
"aa_alt": "DRDRD",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1297,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1128,
"cds_start": 618,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882600.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.607_618dupCGGGATCGAGAC",
"hgvs_p": "p.Asp206_Arg207insArgAspArgAsp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552659.1",
"strand": false,
"transcript": "ENST00000882600.1",
"transcript_support_level": null
},
{
"aa_alt": "DRDRD",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1315,
"cdna_start": 733,
"cds_end": null,
"cds_length": 1128,
"cds_start": 618,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882602.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.607_618dupCGGGATCGAGAC",
"hgvs_p": "p.Asp206_Arg207insArgAspArgAsp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552661.1",
"strand": false,
"transcript": "ENST00000882602.1",
"transcript_support_level": null
},
{
"aa_alt": "DRDRD",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1530,
"cdna_start": 951,
"cds_end": null,
"cds_length": 1128,
"cds_start": 618,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000948309.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.607_618dupCGGGATCGAGAC",
"hgvs_p": "p.Asp206_Arg207insArgAspArgAsp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618368.1",
"strand": false,
"transcript": "ENST00000948309.1",
"transcript_support_level": null
},
{
"aa_alt": "DRDRD",
"aa_end": null,
"aa_length": 370,
"aa_ref": "D",
"aa_start": 201,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1248,
"cdna_start": 665,
"cds_end": null,
"cds_length": 1113,
"cds_start": 603,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000882603.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.592_603dupCGGGATCGAGAC",
"hgvs_p": "p.Asp201_Arg202insArgAspArgAsp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552662.1",
"strand": false,
"transcript": "ENST00000882603.1",
"transcript_support_level": null
},
{
"aa_alt": "DRDRD",
"aa_end": null,
"aa_length": 350,
"aa_ref": "D",
"aa_start": 181,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1202,
"cdna_start": 620,
"cds_end": null,
"cds_length": 1053,
"cds_start": 543,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000444811.6",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.532_543dupCGGGATCGAGAC",
"hgvs_p": "p.Asp181_Arg182insArgAspArgAsp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388400.2",
"strand": false,
"transcript": "ENST00000444811.6",
"transcript_support_level": 2
},
{
"aa_alt": "DRDRD",
"aa_end": null,
"aa_length": 332,
"aa_ref": "D",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1075,
"cdna_start": 692,
"cds_end": null,
"cds_length": 1001,
"cds_start": 618,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000441998.5",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.607_618dupCGGGATCGAGAC",
"hgvs_p": "p.Asp206_Arg207insArgAspArgAsp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397914.1",
"strand": false,
"transcript": "ENST00000441998.5",
"transcript_support_level": 5
},
{
"aa_alt": "DRDRD",
"aa_end": null,
"aa_length": 292,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 914,
"cdna_start": 666,
"cds_end": null,
"cds_length": 881,
"cds_start": 633,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000454913.5",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.622_633dupCGGGATCGAGAC",
"hgvs_p": "p.Asp211_Arg212insArgAspArgAsp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409389.1",
"strand": false,
"transcript": "ENST00000454913.5",
"transcript_support_level": 5
},
{
"aa_alt": "DRDRD",
"aa_end": null,
"aa_length": 259,
"aa_ref": "D",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 906,
"cdna_start": 743,
"cds_end": null,
"cds_length": 781,
"cds_start": 618,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000436289.6",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.607_618dupCGGGATCGAGAC",
"hgvs_p": "p.Asp206_Arg207insArgAspArgAsp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414029.2",
"strand": false,
"transcript": "ENST00000436289.6",
"transcript_support_level": 5
},
{
"aa_alt": "DRDRD",
"aa_end": null,
"aa_length": 380,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1472,
"cdna_start": 748,
"cds_end": null,
"cds_length": 1143,
"cds_start": 633,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047419354.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.622_633dupCGGGATCGAGAC",
"hgvs_p": "p.Asp211_Arg212insArgAspArgAsp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275310.1",
"strand": false,
"transcript": "XM_047419354.1",
"transcript_support_level": null
},
{
"aa_alt": "DRDRD",
"aa_end": null,
"aa_length": 380,
"aa_ref": "D",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1784,
"cdna_start": 1060,
"cds_end": null,
"cds_length": 1143,
"cds_start": 633,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047419355.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.622_633dupCGGGATCGAGAC",
"hgvs_p": "p.Asp211_Arg212insArgAspArgAsp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275311.1",
"strand": false,
"transcript": "XM_047419355.1",
"transcript_support_level": null
},
{
"aa_alt": "DRDRD",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1430,
"cdna_start": 706,
"cds_end": null,
"cds_length": 1128,
"cds_start": 618,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_006715205.4",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.607_618dupCGGGATCGAGAC",
"hgvs_p": "p.Asp206_Arg207insArgAspArgAsp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006715268.1",
"strand": false,
"transcript": "XM_006715205.4",
"transcript_support_level": null
},
{
"aa_alt": "DRDRD",
"aa_end": null,
"aa_length": 375,
"aa_ref": "D",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1457,
"cdna_start": 733,
"cds_end": null,
"cds_length": 1128,
"cds_start": 618,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047419356.1",
"gene_hgnc_id": 13974,
"gene_symbol": "NELFE",
"hgvs_c": "c.607_618dupCGGGATCGAGAC",
"hgvs_p": "p.Asp206_Arg207insArgAspArgAsp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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