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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: 8-18064458-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=18064458&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 18064458,
"ref": "T",
"alt": "C",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000637790.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.456A>G",
"hgvs_p": "p.Lys152Lys",
"transcript": "NM_177924.5",
"protein_id": "NP_808592.2",
"transcript_support_level": null,
"aa_start": 152,
"aa_end": null,
"aa_length": 395,
"cds_start": 456,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": "ENST00000637790.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.456A>G",
"hgvs_p": "p.Lys152Lys",
"transcript": "ENST00000637790.2",
"protein_id": "ENSP00000490272.1",
"transcript_support_level": 1,
"aa_start": 152,
"aa_end": null,
"aa_length": 395,
"cds_start": 456,
"cds_end": null,
"cds_length": 1188,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 2779,
"mane_select": "NM_177924.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.504A>G",
"hgvs_p": "p.Lys168Lys",
"transcript": "ENST00000381733.9",
"protein_id": "ENSP00000371152.4",
"transcript_support_level": 1,
"aa_start": 168,
"aa_end": null,
"aa_length": 411,
"cds_start": 504,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 2512,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.438A>G",
"hgvs_p": "p.Lys146Lys",
"transcript": "ENST00000314146.10",
"protein_id": "ENSP00000326970.10",
"transcript_support_level": 1,
"aa_start": 146,
"aa_end": null,
"aa_length": 389,
"cds_start": 438,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 622,
"cdna_end": null,
"cdna_length": 1690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "n.*974A>G",
"hgvs_p": null,
"transcript": "ENST00000637244.1",
"protein_id": "ENSP00000490188.1",
"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": 3151,
"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": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "n.*974A>G",
"hgvs_p": null,
"transcript": "ENST00000637244.1",
"protein_id": "ENSP00000490188.1",
"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": 3151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.504A>G",
"hgvs_p": "p.Lys168Lys",
"transcript": "NM_004315.6",
"protein_id": "NP_004306.3",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 411,
"cds_start": 504,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 2938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.450A>G",
"hgvs_p": "p.Lys150Lys",
"transcript": "ENST00000637636.1",
"protein_id": "ENSP00000490112.1",
"transcript_support_level": 5,
"aa_start": 150,
"aa_end": null,
"aa_length": 393,
"cds_start": 450,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 2218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.438A>G",
"hgvs_p": "p.Lys146Lys",
"transcript": "NM_001127505.3",
"protein_id": "NP_001120977.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 389,
"cds_start": 438,
"cds_end": null,
"cds_length": 1170,
"cdna_start": 598,
"cdna_end": null,
"cdna_length": 2872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.399A>G",
"hgvs_p": "p.Lys133Lys",
"transcript": "ENST00000636171.1",
"protein_id": "ENSP00000489761.1",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 376,
"cds_start": 399,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 2283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.396A>G",
"hgvs_p": "p.Lys132Lys",
"transcript": "ENST00000636577.1",
"protein_id": "ENSP00000490027.1",
"transcript_support_level": 5,
"aa_start": 132,
"aa_end": null,
"aa_length": 375,
"cds_start": 396,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 2129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.393A>G",
"hgvs_p": "p.Lys131Lys",
"transcript": "ENST00000637528.1",
"protein_id": "ENSP00000490801.1",
"transcript_support_level": 5,
"aa_start": 131,
"aa_end": null,
"aa_length": 374,
"cds_start": 393,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 2215,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.372A>G",
"hgvs_p": "p.Lys124Lys",
"transcript": "ENST00000636815.1",
"protein_id": "ENSP00000490270.1",
"transcript_support_level": 5,
"aa_start": 124,
"aa_end": null,
"aa_length": 367,
"cds_start": 372,
"cds_end": null,
"cds_length": 1104,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.369A>G",
"hgvs_p": "p.Lys123Lys",
"transcript": "ENST00000636997.1",
"protein_id": "ENSP00000490093.1",
"transcript_support_level": 5,
"aa_start": 123,
"aa_end": null,
"aa_length": 366,
"cds_start": 369,
"cds_end": null,
"cds_length": 1101,
"cdna_start": 411,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.504A>G",
"hgvs_p": "p.Lys168Lys",
"transcript": "ENST00000636455.1",
"protein_id": "ENSP00000490502.1",
"transcript_support_level": 5,
"aa_start": 168,
"aa_end": null,
"aa_length": 341,
"cds_start": 504,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.261A>G",
"hgvs_p": "p.Lys87Lys",
"transcript": "NM_001363743.2",
"protein_id": "NP_001350672.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 330,
"cds_start": 261,
"cds_end": null,
"cds_length": 993,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.261A>G",
"hgvs_p": "p.Lys87Lys",
"transcript": "ENST00000636691.1",
"protein_id": "ENSP00000490725.1",
"transcript_support_level": 5,
"aa_start": 87,
"aa_end": null,
"aa_length": 330,
"cds_start": 261,
"cds_end": null,
"cds_length": 993,
"cdna_start": 665,
"cdna_end": null,
"cdna_length": 2472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.261A>G",
"hgvs_p": "p.Lys87Lys",
"transcript": "ENST00000637922.1",
"protein_id": "ENSP00000490071.1",
"transcript_support_level": 5,
"aa_start": 87,
"aa_end": null,
"aa_length": 330,
"cds_start": 261,
"cds_end": null,
"cds_length": 993,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.426A>G",
"hgvs_p": "p.Lys142Lys",
"transcript": "ENST00000637603.1",
"protein_id": "ENSP00000489979.1",
"transcript_support_level": 4,
"aa_start": 142,
"aa_end": null,
"aa_length": 184,
"cds_start": 426,
"cds_end": null,
"cds_length": 557,
"cdna_start": 448,
"cdna_end": null,
"cdna_length": 579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.477A>G",
"hgvs_p": "p.Lys159Lys",
"transcript": "ENST00000635769.1",
"protein_id": "ENSP00000490485.1",
"transcript_support_level": 4,
"aa_start": 159,
"aa_end": null,
"aa_length": 183,
"cds_start": 477,
"cds_end": null,
"cds_length": 554,
"cdna_start": 498,
"cdna_end": null,
"cdna_length": 575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.456A>G",
"hgvs_p": "p.Lys152Lys",
"transcript": "ENST00000637638.1",
"protein_id": "ENSP00000490774.1",
"transcript_support_level": 2,
"aa_start": 152,
"aa_end": null,
"aa_length": 173,
"cds_start": 456,
"cds_end": null,
"cds_length": 522,
"cdna_start": 476,
"cdna_end": null,
"cdna_length": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAH1",
"gene_hgnc_id": 735,
"hgvs_c": "c.261A>G",
"hgvs_p": "p.Lys87Lys",
"transcript": "ENST00000637718.1",
"protein_id": "ENSP00000490133.1",
"transcript_support_level": 5,
"aa_start": 87,
"aa_end": null,
"aa_length": 150,
"cds_start": 261,
"cds_end": null,
"cds_length": 453,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}