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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: 6-133525188-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=133525188&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 133525188,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000355286.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1773G>C",
"hgvs_p": "p.Arg591Ser",
"transcript": "NM_004100.5",
"protein_id": "NP_004091.3",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 639,
"cds_start": 1773,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 2231,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": "ENST00000355286.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1773G>C",
"hgvs_p": "p.Arg591Ser",
"transcript": "ENST00000355286.12",
"protein_id": "ENSP00000347434.7",
"transcript_support_level": 1,
"aa_start": 591,
"aa_end": null,
"aa_length": 639,
"cds_start": 1773,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 2231,
"cdna_end": null,
"cdna_length": 5701,
"mane_select": "NM_004100.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "TARID",
"gene_hgnc_id": 50506,
"hgvs_c": "n.2261+10592C>G",
"hgvs_p": null,
"transcript": "ENST00000607033.5",
"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": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1791G>C",
"hgvs_p": "p.Arg597Ser",
"transcript": "NM_001301013.2",
"protein_id": "NP_001287942.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 645,
"cds_start": 1791,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 2249,
"cdna_end": null,
"cdna_length": 5719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1791G>C",
"hgvs_p": "p.Arg597Ser",
"transcript": "ENST00000531901.5",
"protein_id": "ENSP00000432770.1",
"transcript_support_level": 2,
"aa_start": 597,
"aa_end": null,
"aa_length": 645,
"cds_start": 1791,
"cds_end": null,
"cds_length": 1938,
"cdna_start": 2020,
"cdna_end": null,
"cdna_length": 2892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1704G>C",
"hgvs_p": "p.Arg568Ser",
"transcript": "NM_172103.4",
"protein_id": "NP_742101.2",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
"aa_length": 616,
"cds_start": 1704,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 2162,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1704G>C",
"hgvs_p": "p.Arg568Ser",
"transcript": "ENST00000431403.3",
"protein_id": "ENSP00000404558.3",
"transcript_support_level": 5,
"aa_start": 568,
"aa_end": null,
"aa_length": 616,
"cds_start": 1704,
"cds_end": null,
"cds_length": 1851,
"cdna_start": 2101,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1629G>C",
"hgvs_p": "p.Arg543Ser",
"transcript": "NM_001370459.1",
"protein_id": "NP_001357388.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 591,
"cds_start": 1629,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 2087,
"cdna_end": null,
"cdna_length": 5557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1629G>C",
"hgvs_p": "p.Arg543Ser",
"transcript": "ENST00000355167.8",
"protein_id": "ENSP00000347294.4",
"transcript_support_level": 5,
"aa_start": 543,
"aa_end": null,
"aa_length": 591,
"cds_start": 1629,
"cds_end": null,
"cds_length": 1776,
"cdna_start": 2067,
"cdna_end": null,
"cdna_length": 5494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1791G>C",
"hgvs_p": "p.Arg597Ser",
"transcript": "XM_017010368.3",
"protein_id": "XP_016865857.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 654,
"cds_start": 1791,
"cds_end": null,
"cds_length": 1965,
"cdna_start": 2223,
"cdna_end": null,
"cdna_length": 9163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1773G>C",
"hgvs_p": "p.Arg591Ser",
"transcript": "XM_017010369.3",
"protein_id": "XP_016865858.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 648,
"cds_start": 1773,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 2231,
"cdna_end": null,
"cdna_length": 9171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1722G>C",
"hgvs_p": "p.Arg574Ser",
"transcript": "XM_047418275.1",
"protein_id": "XP_047274231.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 631,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 2154,
"cdna_end": null,
"cdna_length": 9094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1707G>C",
"hgvs_p": "p.Arg569Ser",
"transcript": "XM_017010371.3",
"protein_id": "XP_016865860.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 626,
"cds_start": 1707,
"cds_end": null,
"cds_length": 1881,
"cdna_start": 2165,
"cdna_end": null,
"cdna_length": 9105,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1704G>C",
"hgvs_p": "p.Arg568Ser",
"transcript": "XM_047418276.1",
"protein_id": "XP_047274232.1",
"transcript_support_level": null,
"aa_start": 568,
"aa_end": null,
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"cds_start": 1704,
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"cdna_start": 2136,
"cdna_end": null,
"cdna_length": 9076,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1722G>C",
"hgvs_p": "p.Arg574Ser",
"transcript": "XM_047418279.1",
"protein_id": "XP_047274235.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 622,
"cds_start": 1722,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 2154,
"cdna_end": null,
"cdna_length": 5624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1689G>C",
"hgvs_p": "p.Arg563Ser",
"transcript": "XM_047418280.1",
"protein_id": "XP_047274236.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 620,
"cds_start": 1689,
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"cdna_start": 2147,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1689G>C",
"hgvs_p": "p.Arg563Ser",
"transcript": "XM_047418284.1",
"protein_id": "XP_047274240.1",
"transcript_support_level": null,
"aa_start": 563,
"aa_end": null,
"aa_length": 611,
"cds_start": 1689,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 5617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1629G>C",
"hgvs_p": "p.Arg543Ser",
"transcript": "XM_047418285.1",
"protein_id": "XP_047274241.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 600,
"cds_start": 1629,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 2061,
"cdna_end": null,
"cdna_length": 9001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1611G>C",
"hgvs_p": "p.Arg537Ser",
"transcript": "XM_017010373.3",
"protein_id": "XP_016865862.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 594,
"cds_start": 1611,
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"cds_length": 1785,
"cdna_start": 2043,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1629G>C",
"hgvs_p": "p.Arg543Ser",
"transcript": "XM_047418286.1",
"protein_id": "XP_047274242.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 591,
"cds_start": 1629,
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"cdna_start": 2061,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "c.1611G>C",
"hgvs_p": "p.Arg537Ser",
"transcript": "XM_047418287.1",
"protein_id": "XP_047274243.1",
"transcript_support_level": null,
"aa_start": 537,
"aa_end": null,
"aa_length": 585,
"cds_start": 1611,
"cds_end": null,
"cds_length": 1758,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 5539,
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "n.*485G>C",
"hgvs_p": null,
"transcript": "ENST00000683325.1",
"protein_id": "ENSP00000508141.1",
"transcript_support_level": null,
"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": 6106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"hgvs_c": "n.*485G>C",
"hgvs_p": null,
"transcript": "ENST00000683325.1",
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"feature": null
}
],
"gene_symbol": "EYA4",
"gene_hgnc_id": 3522,
"dbsnp": "rs772266373",
"frequency_reference_population": 0.0000065713384,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657134,
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"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9643337726593018,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.96,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9929,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.47,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 10.003,
"phylop100way_prediction": "Pathogenic",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000355286.12",
"gene_symbol": "EYA4",
"hgnc_id": 3522,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1773G>C",
"hgvs_p": "p.Arg591Ser"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000607033.5",
"gene_symbol": "TARID",
"hgnc_id": 50506,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2261+10592C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}