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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: 6-111310041-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=111310041&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 111310041,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002912.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"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.8854G>A",
"hgvs_p": "p.Val2952Ile",
"transcript": "NM_001372078.1",
"protein_id": "NP_001359007.1",
"transcript_support_level": null,
"aa_start": 2952,
"aa_end": null,
"aa_length": 3130,
"cds_start": 8854,
"cds_end": null,
"cds_length": 9393,
"cdna_start": 9184,
"cdna_end": null,
"cdna_length": 10706,
"mane_select": "ENST00000368802.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001372078.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.8854G>A",
"hgvs_p": "p.Val2952Ile",
"transcript": "ENST00000368802.8",
"protein_id": "ENSP00000357792.3",
"transcript_support_level": 1,
"aa_start": 2952,
"aa_end": null,
"aa_length": 3130,
"cds_start": 8854,
"cds_end": null,
"cds_length": 9393,
"cdna_start": 9184,
"cdna_end": null,
"cdna_length": 10706,
"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.759G>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": 2518,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000462119.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.8854G>A",
"hgvs_p": "p.Val2952Ile",
"transcript": "NM_002912.5",
"protein_id": "NP_002903.3",
"transcript_support_level": null,
"aa_start": 2952,
"aa_end": null,
"aa_length": 3130,
"cds_start": 8854,
"cds_end": null,
"cds_length": 9393,
"cdna_start": 9308,
"cdna_end": null,
"cdna_length": 10830,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002912.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.8854G>A",
"hgvs_p": "p.Val2952Ile",
"transcript": "ENST00000358835.7",
"protein_id": "ENSP00000351697.3",
"transcript_support_level": 5,
"aa_start": 2952,
"aa_end": null,
"aa_length": 3130,
"cds_start": 8854,
"cds_end": null,
"cds_length": 9393,
"cdna_start": 9312,
"cdna_end": null,
"cdna_length": 10815,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358835.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.8620G>A",
"hgvs_p": "p.Val2874Ile",
"transcript": "NM_001286431.2",
"protein_id": "NP_001273360.1",
"transcript_support_level": null,
"aa_start": 2874,
"aa_end": null,
"aa_length": 3052,
"cds_start": 8620,
"cds_end": null,
"cds_length": 9159,
"cdna_start": 9543,
"cdna_end": null,
"cdna_length": 11065,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286431.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.8620G>A",
"hgvs_p": "p.Val2874Ile",
"transcript": "NM_001286432.2",
"protein_id": "NP_001273361.1",
"transcript_support_level": null,
"aa_start": 2874,
"aa_end": null,
"aa_length": 3052,
"cds_start": 8620,
"cds_end": null,
"cds_length": 9159,
"cdna_start": 9436,
"cdna_end": null,
"cdna_length": 10958,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286432.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.8620G>A",
"hgvs_p": "p.Val2874Ile",
"transcript": "ENST00000435970.5",
"protein_id": "ENSP00000402003.1",
"transcript_support_level": 2,
"aa_start": 2874,
"aa_end": null,
"aa_length": 3052,
"cds_start": 8620,
"cds_end": null,
"cds_length": 9159,
"cdna_start": 9440,
"cdna_end": null,
"cdna_length": 10943,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435970.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.8935G>A",
"hgvs_p": "p.Val2979Ile",
"transcript": "XM_011536028.3",
"protein_id": "XP_011534330.1",
"transcript_support_level": null,
"aa_start": 2979,
"aa_end": null,
"aa_length": 3157,
"cds_start": 8935,
"cds_end": null,
"cds_length": 9474,
"cdna_start": 9276,
"cdna_end": null,
"cdna_length": 10798,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536028.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.8932G>A",
"hgvs_p": "p.Val2978Ile",
"transcript": "XM_011536029.4",
"protein_id": "XP_011534331.1",
"transcript_support_level": null,
"aa_start": 2978,
"aa_end": null,
"aa_length": 3156,
"cds_start": 8932,
"cds_end": null,
"cds_length": 9471,
"cdna_start": 9273,
"cdna_end": null,
"cdna_length": 10795,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536029.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.8857G>A",
"hgvs_p": "p.Val2953Ile",
"transcript": "XM_011536030.4",
"protein_id": "XP_011534332.1",
"transcript_support_level": null,
"aa_start": 2953,
"aa_end": null,
"aa_length": 3131,
"cds_start": 8857,
"cds_end": null,
"cds_length": 9396,
"cdna_start": 9198,
"cdna_end": null,
"cdna_length": 10720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536030.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"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.8701G>A",
"hgvs_p": "p.Val2901Ile",
"transcript": "XM_011536032.3",
"protein_id": "XP_011534334.1",
"transcript_support_level": null,
"aa_start": 2901,
"aa_end": null,
"aa_length": 3079,
"cds_start": 8701,
"cds_end": null,
"cds_length": 9240,
"cdna_start": 17290,
"cdna_end": null,
"cdna_length": 18812,
"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.*41G>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": 9160,
"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.*41G>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": 9092,
"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.*8838G>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": 10964,
"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.*8945G>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": 10644,
"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.839C>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": 4315,
"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.*8838G>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": 10964,
"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.*8945G>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": 10644,
"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+31883C>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": 622,
"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+14266C>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": 486,
"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+42204C>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": 732,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000673446.1"
}
],
"gene_symbol": "REV3L",
"gene_hgnc_id": 9968,
"dbsnp": "rs1369897804",
"frequency_reference_population": 0.000011186837,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000109815,
"gnomad_genomes_af": 0.0000131546,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.35033223032951355,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.242,
"revel_prediction": "Benign",
"alphamissense_score": 0.0855,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.959,
"phylop100way_prediction": "Uncertain_significance",
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002912.5",
"gene_symbol": "REV3L",
"hgnc_id": 9968,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.8854G>A",
"hgvs_p": "p.Val2952Ile"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000607434.1",
"gene_symbol": "ENSG00000272356",
"hgnc_id": 58340,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.839C>T",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000666581.2",
"gene_symbol": "MFSD4B",
"hgnc_id": 21053,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.277+31883C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}