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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: 6-35459358-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35459358&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 35459358,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_021922.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381Cys",
"transcript": "NM_021922.3",
"protein_id": "NP_068741.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 536,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000229769.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021922.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381Cys",
"transcript": "ENST00000229769.3",
"protein_id": "ENSP00000229769.2",
"transcript_support_level": 1,
"aa_start": 381,
"aa_end": null,
"aa_length": 536,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021922.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229769.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.1144C>T",
"hgvs_p": "p.Arg382Cys",
"transcript": "ENST00000854656.1",
"protein_id": "ENSP00000524715.1",
"transcript_support_level": null,
"aa_start": 382,
"aa_end": null,
"aa_length": 537,
"cds_start": 1144,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854656.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374Cys",
"transcript": "ENST00000854658.1",
"protein_id": "ENSP00000524717.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 529,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854658.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.1114C>T",
"hgvs_p": "p.Arg372Cys",
"transcript": "ENST00000934267.1",
"protein_id": "ENSP00000604326.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 527,
"cds_start": 1114,
"cds_end": null,
"cds_length": 1584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934267.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.1096C>T",
"hgvs_p": "p.Arg366Cys",
"transcript": "ENST00000934268.1",
"protein_id": "ENSP00000604327.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 521,
"cds_start": 1096,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934268.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.1075C>T",
"hgvs_p": "p.Arg359Cys",
"transcript": "ENST00000934271.1",
"protein_id": "ENSP00000604330.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 514,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934271.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.1075C>T",
"hgvs_p": "p.Arg359Cys",
"transcript": "ENST00000962963.1",
"protein_id": "ENSP00000633022.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 514,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962963.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358Cys",
"transcript": "ENST00000854657.1",
"protein_id": "ENSP00000524716.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 513,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854657.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381Cys",
"transcript": "ENST00000934272.1",
"protein_id": "ENSP00000604331.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 509,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934272.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.1051C>T",
"hgvs_p": "p.Arg351Cys",
"transcript": "ENST00000934266.1",
"protein_id": "ENSP00000604325.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 506,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1521,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934266.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.1045C>T",
"hgvs_p": "p.Arg349Cys",
"transcript": "ENST00000934273.1",
"protein_id": "ENSP00000604332.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 504,
"cds_start": 1045,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934273.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381Cys",
"transcript": "ENST00000934269.1",
"protein_id": "ENSP00000604328.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 494,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934269.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374Cys",
"transcript": "ENST00000962964.1",
"protein_id": "ENSP00000633023.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 487,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962964.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358Cys",
"transcript": "ENST00000934270.1",
"protein_id": "ENSP00000604329.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 471,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934270.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381Cys",
"transcript": "NM_001410876.1",
"protein_id": "NP_001397805.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 451,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410876.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381Cys",
"transcript": "ENST00000696264.1",
"protein_id": "ENSP00000512511.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 451,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696264.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.Arg374Cys",
"transcript": "XM_005248885.3",
"protein_id": "XP_005248942.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 529,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248885.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358Cys",
"transcript": "XM_005248886.3",
"protein_id": "XP_005248943.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 513,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248886.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381Cys",
"transcript": "XM_005248887.3",
"protein_id": "XP_005248944.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 494,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248887.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358Cys",
"transcript": "XM_047418300.1",
"protein_id": "XP_047274256.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 471,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418300.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FANCE",
"gene_hgnc_id": 3586,
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381Cys",
"transcript": "XM_047418301.1",
"protein_id": "XP_047274257.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 441,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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{
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{
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"biotype": "retained_intron",
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],
"gene_symbol": "FANCE",
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"dbsnp": "rs371020401",
"frequency_reference_population": 0.00016232156,
"hom_count_reference_population": 0,
"allele_count_reference_population": 262,
"gnomad_exomes_af": 0.00016007,
"gnomad_genomes_af": 0.000183947,
"gnomad_exomes_ac": 234,
"gnomad_genomes_ac": 28,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7444707155227661,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.419,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1838,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.427,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_021922.3",
"gene_symbol": "FANCE",
"hgnc_id": 3586,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1141C>T",
"hgvs_p": "p.Arg381Cys"
}
],
"clinvar_disease": "Fanconi anemia,Fanconi anemia complementation group E,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4 O:1",
"phenotype_combined": "not specified|Fanconi anemia complementation group E|Fanconi anemia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}