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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: 6-52464981-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=52464981&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 52464981,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000371068.11",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.1003C>G",
"hgvs_p": "p.Leu335Val",
"transcript": "NM_018100.4",
"protein_id": "NP_060570.2",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 640,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 6849,
"mane_select": "ENST00000371068.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.1003C>G",
"hgvs_p": "p.Leu335Val",
"transcript": "ENST00000371068.11",
"protein_id": "ENSP00000360107.4",
"transcript_support_level": 1,
"aa_start": 335,
"aa_end": null,
"aa_length": 640,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 6849,
"mane_select": "NM_018100.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.2928C>G",
"hgvs_p": null,
"transcript": "ENST00000637340.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.1003C>G",
"hgvs_p": "p.Leu335Val",
"transcript": "ENST00000637353.1",
"protein_id": "ENSP00000490441.1",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 641,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 1123,
"cdna_end": null,
"cdna_length": 3829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.1003C>G",
"hgvs_p": "p.Leu335Val",
"transcript": "ENST00000635996.1",
"protein_id": "ENSP00000490256.1",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 632,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1050,
"cdna_end": null,
"cdna_length": 2548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.1003C>G",
"hgvs_p": "p.Leu335Val",
"transcript": "ENST00000637089.1",
"protein_id": "ENSP00000489854.1",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 631,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1125,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.973C>G",
"hgvs_p": "p.Leu325Val",
"transcript": "ENST00000636702.1",
"protein_id": "ENSP00000489623.1",
"transcript_support_level": 5,
"aa_start": 325,
"aa_end": null,
"aa_length": 630,
"cds_start": 973,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1211,
"cdna_end": null,
"cdna_length": 2197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.946C>G",
"hgvs_p": "p.Leu316Val",
"transcript": "NM_001172420.2",
"protein_id": "NP_001165891.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 621,
"cds_start": 946,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1129,
"cdna_end": null,
"cdna_length": 6906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.946C>G",
"hgvs_p": "p.Leu316Val",
"transcript": "ENST00000538167.2",
"protein_id": "ENSP00000444521.1",
"transcript_support_level": 5,
"aa_start": 316,
"aa_end": null,
"aa_length": 621,
"cds_start": 946,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 946,
"cdna_end": null,
"cdna_length": 5308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.946C>G",
"hgvs_p": "p.Leu316Val",
"transcript": "ENST00000636489.1",
"protein_id": "ENSP00000489998.1",
"transcript_support_level": 5,
"aa_start": 316,
"aa_end": null,
"aa_length": 621,
"cds_start": 946,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1435,
"cdna_end": null,
"cdna_length": 2421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.946C>G",
"hgvs_p": "p.Leu316Val",
"transcript": "ENST00000636954.1",
"protein_id": "ENSP00000489966.1",
"transcript_support_level": 2,
"aa_start": 316,
"aa_end": null,
"aa_length": 621,
"cds_start": 946,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.1003C>G",
"hgvs_p": "p.Leu335Val",
"transcript": "ENST00000636107.1",
"protein_id": "ENSP00000489680.1",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 582,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 3530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.1003C>G",
"hgvs_p": "p.Leu335Val",
"transcript": "ENST00000637263.1",
"protein_id": "ENSP00000489700.1",
"transcript_support_level": 5,
"aa_start": 335,
"aa_end": null,
"aa_length": 552,
"cds_start": 1003,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1100,
"cdna_end": null,
"cdna_length": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.715C>G",
"hgvs_p": "p.Leu239Val",
"transcript": "ENST00000636379.1",
"protein_id": "ENSP00000490622.1",
"transcript_support_level": 5,
"aa_start": 239,
"aa_end": null,
"aa_length": 544,
"cds_start": 715,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.679C>G",
"hgvs_p": "p.Leu227Val",
"transcript": "ENST00000635760.1",
"protein_id": "ENSP00000489765.1",
"transcript_support_level": 5,
"aa_start": 227,
"aa_end": null,
"aa_length": 532,
"cds_start": 679,
"cds_end": null,
"cds_length": 1599,
"cdna_start": 1052,
"cdna_end": null,
"cdna_length": 2030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.667C>G",
"hgvs_p": "p.Leu223Val",
"transcript": "ENST00000636343.1",
"protein_id": "ENSP00000490193.1",
"transcript_support_level": 5,
"aa_start": 223,
"aa_end": null,
"aa_length": 517,
"cds_start": 667,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 2965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"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": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.679C>G",
"hgvs_p": "p.Leu227Val",
"transcript": "ENST00000635984.1",
"protein_id": "ENSP00000489921.1",
"transcript_support_level": 5,
"aa_start": 227,
"aa_end": null,
"aa_length": 474,
"cds_start": 679,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 1067,
"cdna_end": null,
"cdna_length": 3293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.1003C>G",
"hgvs_p": null,
"transcript": "ENST00000480623.6",
"protein_id": "ENSP00000434498.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.*304C>G",
"hgvs_p": null,
"transcript": "ENST00000635812.1",
"protein_id": "ENSP00000490859.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.*872C>G",
"hgvs_p": null,
"transcript": "ENST00000635866.1",
"protein_id": "ENSP00000489866.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.2521C>G",
"hgvs_p": null,
"transcript": "ENST00000635911.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.897C>G",
"hgvs_p": null,
"transcript": "ENST00000636311.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.*304C>G",
"hgvs_p": null,
"transcript": "ENST00000636398.1",
"protein_id": "ENSP00000489654.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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},
{
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],
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}
],
"gene_symbol": "EFHC1",
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"dbsnp": "rs749929571",
"frequency_reference_population": 6.840759e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84076e-7,
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"gnomad_exomes_ac": 1,
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04770636558532715,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.048,
"revel_prediction": "Benign",
"alphamissense_score": 0.0692,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.231,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000371068.11",
"gene_symbol": "EFHC1",
"hgnc_id": 16406,
"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.1003C>G",
"hgvs_p": "p.Leu335Val"
}
],
"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
}