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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: 6-104796988-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=104796988&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 104796988,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000262903.9",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219*",
"transcript": "NM_020771.4",
"protein_id": "NP_065822.2",
"transcript_support_level": null,
"aa_start": 219,
"aa_end": null,
"aa_length": 909,
"cds_start": 655,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 4575,
"mane_select": "ENST00000262903.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219*",
"transcript": "ENST00000262903.9",
"protein_id": "ENSP00000262903.4",
"transcript_support_level": 1,
"aa_start": 219,
"aa_end": null,
"aa_length": 909,
"cds_start": 655,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 4575,
"mane_select": "NM_020771.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "n.*212C>T",
"hgvs_p": null,
"transcript": "ENST00000416605.6",
"protein_id": "ENSP00000392425.2",
"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": 4729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "n.*212C>T",
"hgvs_p": null,
"transcript": "ENST00000416605.6",
"protein_id": "ENSP00000392425.2",
"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": 4729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.-129C>T",
"hgvs_p": null,
"transcript": "NM_001350560.2",
"protein_id": "NP_001337489.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": -4,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.553C>T",
"hgvs_p": "p.Arg185*",
"transcript": "NM_001321083.2",
"protein_id": "NP_001308012.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 875,
"cds_start": 553,
"cds_end": null,
"cds_length": 2628,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 4390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175*",
"transcript": "NM_001321080.2",
"protein_id": "NP_001308009.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 865,
"cds_start": 523,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 4443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.421C>T",
"hgvs_p": "p.Arg141*",
"transcript": "NM_001350554.2",
"protein_id": "NP_001337483.1",
"transcript_support_level": null,
"aa_start": 141,
"aa_end": null,
"aa_length": 831,
"cds_start": 421,
"cds_end": null,
"cds_length": 2496,
"cdna_start": 858,
"cdna_end": null,
"cdna_length": 4501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Arg122*",
"transcript": "NM_001350555.2",
"protein_id": "NP_001337484.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 812,
"cds_start": 364,
"cds_end": null,
"cds_length": 2439,
"cdna_start": 641,
"cdna_end": null,
"cdna_length": 4284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.169C>T",
"hgvs_p": "p.Arg57*",
"transcript": "NM_001350556.2",
"protein_id": "NP_001337485.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 747,
"cds_start": 169,
"cds_end": null,
"cds_length": 2244,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 4499,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.151C>T",
"hgvs_p": "p.Arg51*",
"transcript": "NM_001321084.2",
"protein_id": "NP_001308013.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 741,
"cds_start": 151,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 4307,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.151C>T",
"hgvs_p": "p.Arg51*",
"transcript": "NM_001350557.2",
"protein_id": "NP_001337486.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 741,
"cds_start": 151,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 4416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.151C>T",
"hgvs_p": "p.Arg51*",
"transcript": "NM_001350558.2",
"protein_id": "NP_001337487.1",
"transcript_support_level": null,
"aa_start": 51,
"aa_end": null,
"aa_length": 741,
"cds_start": 151,
"cds_end": null,
"cds_length": 2226,
"cdna_start": 849,
"cdna_end": null,
"cdna_length": 4492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.73C>T",
"hgvs_p": "p.Arg25*",
"transcript": "NM_001350559.2",
"protein_id": "NP_001337488.1",
"transcript_support_level": null,
"aa_start": 25,
"aa_end": null,
"aa_length": 715,
"cds_start": 73,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 717,
"cdna_end": null,
"cdna_length": 4360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219*",
"transcript": "ENST00000369125.6",
"protein_id": "ENSP00000358121.2",
"transcript_support_level": 2,
"aa_start": 219,
"aa_end": null,
"aa_length": 694,
"cds_start": 655,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 932,
"cdna_end": null,
"cdna_length": 3102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.523C>T",
"hgvs_p": "p.Arg175*",
"transcript": "ENST00000519645.5",
"protein_id": "ENSP00000429765.1",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 206,
"cds_start": 523,
"cds_end": null,
"cds_length": 622,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "n.1026C>T",
"hgvs_p": null,
"transcript": "NR_104424.2",
"protein_id": null,
"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": 4774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "n.773C>T",
"hgvs_p": null,
"transcript": "NR_146787.2",
"protein_id": null,
"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": 4403,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "n.943C>T",
"hgvs_p": null,
"transcript": "NR_146788.2",
"protein_id": null,
"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": 4573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "n.932C>T",
"hgvs_p": null,
"transcript": "NR_146789.2",
"protein_id": null,
"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": 4562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "n.932C>T",
"hgvs_p": null,
"transcript": "NR_146790.2",
"protein_id": null,
"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": 4579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "n.932C>T",
"hgvs_p": null,
"transcript": "NR_146791.2",
"protein_id": null,
"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": 4680,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "n.1026C>T",
"hgvs_p": null,
"transcript": "NR_146792.2",
"protein_id": null,
"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": 4656,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
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"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"hgvs_c": "c.-129C>T",
"hgvs_p": null,
"transcript": "NM_001350560.2",
"protein_id": "NP_001337489.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 648,
"cds_start": -4,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HACE1",
"gene_hgnc_id": 21033,
"dbsnp": "rs869025280",
"frequency_reference_population": 0.000005624023,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000552422,
"gnomad_genomes_af": 0.00000657419,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6000000238418579,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.6,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.578,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000262903.9",
"gene_symbol": "HACE1",
"hgnc_id": 21033,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.655C>T",
"hgvs_p": "p.Arg219*"
}
],
"clinvar_disease": "Spastic paraplegia-severe developmental delay-epilepsy syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Spastic paraplegia-severe developmental delay-epilepsy syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}