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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: 6-111309969-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=111309969&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 111309969,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002912.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.8926C>A",
"hgvs_p": "p.Pro2976Thr",
"transcript": "NM_001372078.1",
"protein_id": "NP_001359007.1",
"transcript_support_level": null,
"aa_start": 2976,
"aa_end": null,
"aa_length": 3130,
"cds_start": 8926,
"cds_end": null,
"cds_length": 9393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368802.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372078.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.8926C>A",
"hgvs_p": "p.Pro2976Thr",
"transcript": "ENST00000368802.8",
"protein_id": "ENSP00000357792.3",
"transcript_support_level": 1,
"aa_start": 2976,
"aa_end": null,
"aa_length": 3130,
"cds_start": 8926,
"cds_end": null,
"cds_length": 9393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001372078.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368802.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "n.831C>A",
"hgvs_p": null,
"transcript": "ENST00000462119.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000462119.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.8926C>A",
"hgvs_p": "p.Pro2976Thr",
"transcript": "NM_002912.5",
"protein_id": "NP_002903.3",
"transcript_support_level": null,
"aa_start": 2976,
"aa_end": null,
"aa_length": 3130,
"cds_start": 8926,
"cds_end": null,
"cds_length": 9393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002912.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.8926C>A",
"hgvs_p": "p.Pro2976Thr",
"transcript": "ENST00000358835.7",
"protein_id": "ENSP00000351697.3",
"transcript_support_level": 5,
"aa_start": 2976,
"aa_end": null,
"aa_length": 3130,
"cds_start": 8926,
"cds_end": null,
"cds_length": 9393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358835.7"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.8692C>A",
"hgvs_p": "p.Pro2898Thr",
"transcript": "NM_001286431.2",
"protein_id": "NP_001273360.1",
"transcript_support_level": null,
"aa_start": 2898,
"aa_end": null,
"aa_length": 3052,
"cds_start": 8692,
"cds_end": null,
"cds_length": 9159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286431.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.8692C>A",
"hgvs_p": "p.Pro2898Thr",
"transcript": "NM_001286432.2",
"protein_id": "NP_001273361.1",
"transcript_support_level": null,
"aa_start": 2898,
"aa_end": null,
"aa_length": 3052,
"cds_start": 8692,
"cds_end": null,
"cds_length": 9159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286432.2"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.8692C>A",
"hgvs_p": "p.Pro2898Thr",
"transcript": "ENST00000435970.5",
"protein_id": "ENSP00000402003.1",
"transcript_support_level": 2,
"aa_start": 2898,
"aa_end": null,
"aa_length": 3052,
"cds_start": 8692,
"cds_end": null,
"cds_length": 9159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435970.5"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.9007C>A",
"hgvs_p": "p.Pro3003Thr",
"transcript": "XM_011536028.3",
"protein_id": "XP_011534330.1",
"transcript_support_level": null,
"aa_start": 3003,
"aa_end": null,
"aa_length": 3157,
"cds_start": 9007,
"cds_end": null,
"cds_length": 9474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536028.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.9004C>A",
"hgvs_p": "p.Pro3002Thr",
"transcript": "XM_011536029.4",
"protein_id": "XP_011534331.1",
"transcript_support_level": null,
"aa_start": 3002,
"aa_end": null,
"aa_length": 3156,
"cds_start": 9004,
"cds_end": null,
"cds_length": 9471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536029.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.8929C>A",
"hgvs_p": "p.Pro2977Thr",
"transcript": "XM_011536030.4",
"protein_id": "XP_011534332.1",
"transcript_support_level": null,
"aa_start": 2977,
"aa_end": null,
"aa_length": 3131,
"cds_start": 8929,
"cds_end": null,
"cds_length": 9396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536030.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.8773C>A",
"hgvs_p": "p.Pro2925Thr",
"transcript": "XM_011536032.3",
"protein_id": "XP_011534334.1",
"transcript_support_level": null,
"aa_start": 2925,
"aa_end": null,
"aa_length": 3079,
"cds_start": 8773,
"cds_end": null,
"cds_length": 9240,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536032.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.*113C>A",
"hgvs_p": null,
"transcript": "XM_047419215.1",
"protein_id": "XP_047275171.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2900,
"cds_start": null,
"cds_end": null,
"cds_length": 8703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419215.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "c.*113C>A",
"hgvs_p": null,
"transcript": "XM_047419216.1",
"protein_id": "XP_047275172.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2874,
"cds_start": null,
"cds_end": null,
"cds_length": 8625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419216.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "n.*8910C>A",
"hgvs_p": null,
"transcript": "ENST00000422377.5",
"protein_id": "ENSP00000393184.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000422377.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "n.*9017C>A",
"hgvs_p": null,
"transcript": "ENST00000434009.5",
"protein_id": "ENSP00000391605.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000434009.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272356",
"gene_hgnc_id": 58340,
"hgvs_c": "n.767G>T",
"hgvs_p": null,
"transcript": "ENST00000607434.1",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000607434.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "n.*8910C>A",
"hgvs_p": null,
"transcript": "ENST00000422377.5",
"protein_id": "ENSP00000393184.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000422377.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"hgvs_c": "n.*9017C>A",
"hgvs_p": null,
"transcript": "ENST00000434009.5",
"protein_id": "ENSP00000391605.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000434009.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MFSD4B",
"gene_hgnc_id": 21053,
"hgvs_c": "n.277+31811G>T",
"hgvs_p": null,
"transcript": "ENST00000666581.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000666581.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MFSD4B",
"gene_hgnc_id": 21053,
"hgvs_c": "n.273+14194G>T",
"hgvs_p": null,
"transcript": "ENST00000673245.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000673245.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MFSD4B",
"gene_hgnc_id": 21053,
"hgvs_c": "n.179+42132G>T",
"hgvs_p": null,
"transcript": "ENST00000673446.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000673446.1"
}
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"splice_prediction_selected": "Benign",
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"acmg_by_gene": [
{
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002912.5",
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{
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"verdict": "Uncertain_significance",
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},
{
"score": 1,
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"BP4"
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"verdict": "Uncertain_significance",
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"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}