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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: 6-52424148-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=52424148&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 52424148,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000371068.11",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "NM_018100.4",
"protein_id": "NP_060570.2",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 640,
"cds_start": 266,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 6849,
"mane_select": "ENST00000371068.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "ENST00000371068.11",
"protein_id": "ENSP00000360107.4",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 640,
"cds_start": 266,
"cds_end": null,
"cds_length": 1923,
"cdna_start": 335,
"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": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.934A>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": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "ENST00000637353.1",
"protein_id": "ENSP00000490441.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 641,
"cds_start": 266,
"cds_end": null,
"cds_length": 1926,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 3829,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "ENST00000635996.1",
"protein_id": "ENSP00000490256.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 632,
"cds_start": 266,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 313,
"cdna_end": null,
"cdna_length": 2548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "ENST00000637089.1",
"protein_id": "ENSP00000489854.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 631,
"cds_start": 266,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 388,
"cdna_end": null,
"cdna_length": 2133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.236A>G",
"hgvs_p": "p.His79Arg",
"transcript": "ENST00000636702.1",
"protein_id": "ENSP00000489623.1",
"transcript_support_level": 5,
"aa_start": 79,
"aa_end": null,
"aa_length": 630,
"cds_start": 236,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 2197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.209A>G",
"hgvs_p": "p.His70Arg",
"transcript": "NM_001172420.2",
"protein_id": "NP_001165891.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 621,
"cds_start": 209,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 6906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.209A>G",
"hgvs_p": "p.His70Arg",
"transcript": "ENST00000538167.2",
"protein_id": "ENSP00000444521.1",
"transcript_support_level": 5,
"aa_start": 70,
"aa_end": null,
"aa_length": 621,
"cds_start": 209,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 209,
"cdna_end": null,
"cdna_length": 5308,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.209A>G",
"hgvs_p": "p.His70Arg",
"transcript": "ENST00000636489.1",
"protein_id": "ENSP00000489998.1",
"transcript_support_level": 5,
"aa_start": 70,
"aa_end": null,
"aa_length": 621,
"cds_start": 209,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 2421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.209A>G",
"hgvs_p": "p.His70Arg",
"transcript": "ENST00000636954.1",
"protein_id": "ENSP00000489966.1",
"transcript_support_level": 2,
"aa_start": 70,
"aa_end": null,
"aa_length": 621,
"cds_start": 209,
"cds_end": null,
"cds_length": 1866,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "ENST00000636107.1",
"protein_id": "ENSP00000489680.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 582,
"cds_start": 266,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 335,
"cdna_end": null,
"cdna_length": 3530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "ENST00000637263.1",
"protein_id": "ENSP00000489700.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 552,
"cds_start": 266,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 363,
"cdna_end": null,
"cdna_length": 2089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.266A>G",
"hgvs_p": "p.His89Arg",
"transcript": "ENST00000636379.1",
"protein_id": "ENSP00000490622.1",
"transcript_support_level": 5,
"aa_start": 89,
"aa_end": null,
"aa_length": 544,
"cds_start": 266,
"cds_end": null,
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"cdna_start": 298,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "c.248A>G",
"hgvs_p": "p.His83Arg",
"transcript": "ENST00000637315.1",
"protein_id": "ENSP00000489708.1",
"transcript_support_level": 3,
"aa_start": 83,
"aa_end": null,
"aa_length": 147,
"cds_start": 248,
"cds_end": null,
"cds_length": 445,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 552,
"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,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.266A>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,
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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,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.290A>G",
"hgvs_p": null,
"transcript": "ENST00000491749.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 496,
"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,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.266A>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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.304A>G",
"hgvs_p": null,
"transcript": "ENST00000635843.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.266A>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,
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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": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.527A>G",
"hgvs_p": null,
"transcript": "ENST00000635911.1",
"protein_id": null,
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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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.266A>G",
"hgvs_p": null,
"transcript": "ENST00000635963.1",
"protein_id": "ENSP00000489852.1",
"transcript_support_level": 3,
"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": 507,
"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,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EFHC1",
"gene_hgnc_id": 16406,
"hgvs_c": "n.297A>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,
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{
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Myoclonic epilepsy, juvenile, susceptibility to, 1;Absence seizure",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}