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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: 16-67229854-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67229854&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67229854,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001318202.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.3351G>C",
"hgvs_p": "p.Lys1117Asn",
"transcript": "NM_013241.3",
"protein_id": "NP_037373.2",
"transcript_support_level": null,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3351,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258201.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013241.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.3351G>C",
"hgvs_p": "p.Lys1117Asn",
"transcript": "ENST00000258201.9",
"protein_id": "ENSP00000258201.4",
"transcript_support_level": 1,
"aa_start": 1117,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3351,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013241.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258201.9"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.3633G>C",
"hgvs_p": "p.Lys1211Asn",
"transcript": "ENST00000932114.1",
"protein_id": "ENSP00000602173.1",
"transcript_support_level": null,
"aa_start": 1211,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3633,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932114.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.3621G>C",
"hgvs_p": "p.Lys1207Asn",
"transcript": "ENST00000910037.1",
"protein_id": "ENSP00000580096.1",
"transcript_support_level": null,
"aa_start": 1207,
"aa_end": null,
"aa_length": 1254,
"cds_start": 3621,
"cds_end": null,
"cds_length": 3765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910037.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.3456G>C",
"hgvs_p": "p.Lys1152Asn",
"transcript": "ENST00000910044.1",
"protein_id": "ENSP00000580103.1",
"transcript_support_level": null,
"aa_start": 1152,
"aa_end": null,
"aa_length": 1199,
"cds_start": 3456,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910044.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.3429G>C",
"hgvs_p": "p.Lys1143Asn",
"transcript": "NM_001318202.2",
"protein_id": "NP_001305131.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1190,
"cds_start": 3429,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318202.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.3429G>C",
"hgvs_p": "p.Lys1143Asn",
"transcript": "ENST00000910041.1",
"protein_id": "ENSP00000580100.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1190,
"cds_start": 3429,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910041.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.3405G>C",
"hgvs_p": "p.Lys1135Asn",
"transcript": "ENST00000910039.1",
"protein_id": "ENSP00000580098.1",
"transcript_support_level": null,
"aa_start": 1135,
"aa_end": null,
"aa_length": 1182,
"cds_start": 3405,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910039.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.3393G>C",
"hgvs_p": "p.Lys1131Asn",
"transcript": "ENST00000966997.1",
"protein_id": "ENSP00000637056.1",
"transcript_support_level": null,
"aa_start": 1131,
"aa_end": null,
"aa_length": 1178,
"cds_start": 3393,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966997.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.3378G>C",
"hgvs_p": "p.Lys1126Asn",
"transcript": "ENST00000910040.1",
"protein_id": "ENSP00000580099.1",
"transcript_support_level": null,
"aa_start": 1126,
"aa_end": null,
"aa_length": 1173,
"cds_start": 3378,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910040.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.3348G>C",
"hgvs_p": "p.Lys1116Asn",
"transcript": "ENST00000932112.1",
"protein_id": "ENSP00000602171.1",
"transcript_support_level": null,
"aa_start": 1116,
"aa_end": null,
"aa_length": 1163,
"cds_start": 3348,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932112.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.3321G>C",
"hgvs_p": "p.Lys1107Asn",
"transcript": "ENST00000910045.1",
"protein_id": "ENSP00000580104.1",
"transcript_support_level": null,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3321,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910045.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.3315G>C",
"hgvs_p": "p.Lys1105Asn",
"transcript": "ENST00000910038.1",
"protein_id": "ENSP00000580097.1",
"transcript_support_level": null,
"aa_start": 1105,
"aa_end": null,
"aa_length": 1152,
"cds_start": 3315,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910038.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.3243G>C",
"hgvs_p": "p.Lys1081Asn",
"transcript": "ENST00000910036.1",
"protein_id": "ENSP00000580095.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1128,
"cds_start": 3243,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910036.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.3189G>C",
"hgvs_p": "p.Lys1063Asn",
"transcript": "ENST00000910035.1",
"protein_id": "ENSP00000580094.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1110,
"cds_start": 3189,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910035.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.3168G>C",
"hgvs_p": "p.Lys1056Asn",
"transcript": "ENST00000910042.1",
"protein_id": "ENSP00000580101.1",
"transcript_support_level": null,
"aa_start": 1056,
"aa_end": null,
"aa_length": 1103,
"cds_start": 3168,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910042.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.3036G>C",
"hgvs_p": "p.Lys1012Asn",
"transcript": "ENST00000910043.1",
"protein_id": "ENSP00000580102.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1059,
"cds_start": 3036,
"cds_end": null,
"cds_length": 3180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910043.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.2982G>C",
"hgvs_p": "p.Lys994Asn",
"transcript": "ENST00000966998.1",
"protein_id": "ENSP00000637057.1",
"transcript_support_level": null,
"aa_start": 994,
"aa_end": null,
"aa_length": 1041,
"cds_start": 2982,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966998.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.2946G>C",
"hgvs_p": "p.Lys982Asn",
"transcript": "ENST00000932113.1",
"protein_id": "ENSP00000602172.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1029,
"cds_start": 2946,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932113.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.3399G>C",
"hgvs_p": "p.Lys1133Asn",
"transcript": "XM_011523043.3",
"protein_id": "XP_011521345.1",
"transcript_support_level": null,
"aa_start": 1133,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3399,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523043.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.3321G>C",
"hgvs_p": "p.Lys1107Asn",
"transcript": "XM_047433999.1",
"protein_id": "XP_047289955.1",
"transcript_support_level": null,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1154,
"cds_start": 3321,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433999.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.3267G>C",
"hgvs_p": "p.Lys1089Asn",
"transcript": "XM_011523044.2",
"protein_id": "XP_011521346.1",
"transcript_support_level": null,
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{
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{
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],
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},
{
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"feature": "XM_047434002.1"
},
{
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],
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{
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"consequences": [
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],
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"biotype": "retained_intron",
"feature": "ENST00000567752.5"
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
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"gene_symbol": "FHOD1",
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"hgvs_c": "n.268G>C",
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"transcript": "ENST00000569085.1",
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"biotype": "retained_intron",
"feature": "ENST00000569085.1"
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],
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"dbsnp": "rs761208251",
"frequency_reference_population": 0.000006156439,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000615644,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11552160978317261,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.08,
"revel_prediction": "Benign",
"alphamissense_score": 0.4602,
"alphamissense_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.55,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.039,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001318202.2",
"gene_symbol": "FHOD1",
"hgnc_id": 17905,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.3429G>C",
"hgvs_p": "p.Lys1143Asn"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}