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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: 6-52452780-GTATGTCAC-AAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=52452780&ref=GTATGTCAC&alt=AAG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 52452780,
"ref": "GTATGTCAC",
"alt": "AAG",
"effect": "missense_variant,disruptive_inframe_deletion",
"transcript": "ENST00000371068.11",
"consequences": [
{
"aa_ref": "KYVT",
"aa_alt": "KS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.666_674delGTATGTCACinsAAG",
"hgvs_p": "p.Tyr223_Thr225delinsSer",
"transcript": "NM_018100.4",
"protein_id": "NP_060570.2",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 640,
"cds_start": 666,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 6849,
"mane_select": "ENST00000371068.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYVT",
"aa_alt": "KS",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.666_674delGTATGTCACinsAAG",
"hgvs_p": "p.Tyr223_Thr225delinsSer",
"transcript": "ENST00000371068.11",
"protein_id": "ENSP00000360107.4",
"transcript_support_level": 1,
"aa_start": 222,
"aa_end": null,
"aa_length": 640,
"cds_start": 666,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 735,
"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": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.1334_1342delGTATGTCACinsAAG",
"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": "KYVT",
"aa_alt": "KS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.666_674delGTATGTCACinsAAG",
"hgvs_p": "p.Tyr223_Thr225delinsSer",
"transcript": "ENST00000637353.1",
"protein_id": "ENSP00000490441.1",
"transcript_support_level": 5,
"aa_start": 222,
"aa_end": null,
"aa_length": 641,
"cds_start": 666,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 3829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYVT",
"aa_alt": "KS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.666_674delGTATGTCACinsAAG",
"hgvs_p": "p.Tyr223_Thr225delinsSer",
"transcript": "ENST00000635996.1",
"protein_id": "ENSP00000490256.1",
"transcript_support_level": 5,
"aa_start": 222,
"aa_end": null,
"aa_length": 632,
"cds_start": 666,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 713,
"cdna_end": null,
"cdna_length": 2548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYVT",
"aa_alt": "KS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.666_674delGTATGTCACinsAAG",
"hgvs_p": "p.Tyr223_Thr225delinsSer",
"transcript": "ENST00000637089.1",
"protein_id": "ENSP00000489854.1",
"transcript_support_level": 5,
"aa_start": 222,
"aa_end": null,
"aa_length": 631,
"cds_start": 666,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYVT",
"aa_alt": "KS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.636_644delGTATGTCACinsAAG",
"hgvs_p": "p.Tyr213_Thr215delinsSer",
"transcript": "ENST00000636702.1",
"protein_id": "ENSP00000489623.1",
"transcript_support_level": 5,
"aa_start": 212,
"aa_end": null,
"aa_length": 630,
"cds_start": 636,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 874,
"cdna_end": null,
"cdna_length": 2197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYVT",
"aa_alt": "KS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.609_617delGTATGTCACinsAAG",
"hgvs_p": "p.Tyr204_Thr206delinsSer",
"transcript": "NM_001172420.2",
"protein_id": "NP_001165891.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 621,
"cds_start": 609,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 792,
"cdna_end": null,
"cdna_length": 6906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYVT",
"aa_alt": "KS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.609_617delGTATGTCACinsAAG",
"hgvs_p": "p.Tyr204_Thr206delinsSer",
"transcript": "ENST00000538167.2",
"protein_id": "ENSP00000444521.1",
"transcript_support_level": 5,
"aa_start": 203,
"aa_end": null,
"aa_length": 621,
"cds_start": 609,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 609,
"cdna_end": null,
"cdna_length": 5308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYVT",
"aa_alt": "KS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.609_617delGTATGTCACinsAAG",
"hgvs_p": "p.Tyr204_Thr206delinsSer",
"transcript": "ENST00000636489.1",
"protein_id": "ENSP00000489998.1",
"transcript_support_level": 5,
"aa_start": 203,
"aa_end": null,
"aa_length": 621,
"cds_start": 609,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 1098,
"cdna_end": null,
"cdna_length": 2421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYVT",
"aa_alt": "KS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.609_617delGTATGTCACinsAAG",
"hgvs_p": "p.Tyr204_Thr206delinsSer",
"transcript": "ENST00000636954.1",
"protein_id": "ENSP00000489966.1",
"transcript_support_level": 2,
"aa_start": 203,
"aa_end": null,
"aa_length": 621,
"cds_start": 609,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYVT",
"aa_alt": "KS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.666_674delGTATGTCACinsAAG",
"hgvs_p": "p.Tyr223_Thr225delinsSer",
"transcript": "ENST00000636107.1",
"protein_id": "ENSP00000489680.1",
"transcript_support_level": 5,
"aa_start": 222,
"aa_end": null,
"aa_length": 582,
"cds_start": 666,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 3530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYVT",
"aa_alt": "KS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.666_674delGTATGTCACinsAAG",
"hgvs_p": "p.Tyr223_Thr225delinsSer",
"transcript": "ENST00000637263.1",
"protein_id": "ENSP00000489700.1",
"transcript_support_level": 5,
"aa_start": 222,
"aa_end": null,
"aa_length": 552,
"cds_start": 666,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYVT",
"aa_alt": "KS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.378_386delGTATGTCACinsAAG",
"hgvs_p": "p.Tyr127_Thr129delinsSer",
"transcript": "ENST00000636379.1",
"protein_id": "ENSP00000490622.1",
"transcript_support_level": 5,
"aa_start": 126,
"aa_end": null,
"aa_length": 544,
"cds_start": 378,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 410,
"cdna_end": null,
"cdna_length": 1829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYVT",
"aa_alt": "KS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.342_350delGTATGTCACinsAAG",
"hgvs_p": "p.Tyr115_Thr117delinsSer",
"transcript": "ENST00000635760.1",
"protein_id": "ENSP00000489765.1",
"transcript_support_level": 5,
"aa_start": 114,
"aa_end": null,
"aa_length": 532,
"cds_start": 342,
"cds_end": null,
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"cdna_start": 715,
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"cdna_length": 2030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYVT",
"aa_alt": "KS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.330_338delGTATGTCACinsAAG",
"hgvs_p": "p.Tyr111_Thr113delinsSer",
"transcript": "ENST00000636343.1",
"protein_id": "ENSP00000490193.1",
"transcript_support_level": 5,
"aa_start": 110,
"aa_end": null,
"aa_length": 517,
"cds_start": 330,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 332,
"cdna_end": null,
"cdna_length": 2965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KYVT",
"aa_alt": "KS",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"disruptive_inframe_deletion"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.342_350delGTATGTCACinsAAG",
"hgvs_p": "p.Tyr115_Thr117delinsSer",
"transcript": "ENST00000635984.1",
"protein_id": "ENSP00000489921.1",
"transcript_support_level": 5,
"aa_start": 114,
"aa_end": null,
"aa_length": 474,
"cds_start": 342,
"cds_end": null,
"cds_length": 1425,
"cdna_start": 730,
"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": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.666_674delGTATGTCACinsAAG",
"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,
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"cdna_start": null,
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"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.666_674delGTATGTCACinsAAG",
"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,
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"cdna_start": null,
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"mane_select": null,
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"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.*535_*543delGTATGTCACinsAAG",
"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": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.927_935delGTATGTCACinsAAG",
"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": 2,
"exon_rank_end": null,
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{
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}
],
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"dbsnp": "rs1554259746",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
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"phylop100way_score": 4.471,
"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
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"PM4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000371068.11",
"gene_symbol": "EFHC1",
"hgnc_id": 16406,
"effects": [
"missense_variant",
"disruptive_inframe_deletion"
],
"inheritance_mode": "AD",
"hgvs_c": "c.666_674delGTATGTCACinsAAG",
"hgvs_p": "p.Tyr223_Thr225delinsSer"
}
],
"clinvar_disease": " 1, juvenile, susceptibility to,Myoclonic epilepsy,Typical absence seizure",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Typical absence seizure;Myoclonic epilepsy, juvenile, susceptibility to, 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}