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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: 22-38113709-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38113709&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 38113709,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000332509.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.2035-55G>C",
"hgvs_p": null,
"transcript": "NM_003560.4",
"protein_id": "NP_003551.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 806,
"cds_start": -4,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3299,
"mane_select": "ENST00000332509.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.2035-55G>C",
"hgvs_p": null,
"transcript": "ENST00000332509.8",
"protein_id": "ENSP00000333142.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 806,
"cds_start": -4,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3299,
"mane_select": "NM_003560.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1873-55G>C",
"hgvs_p": null,
"transcript": "ENST00000402064.5",
"protein_id": "ENSP00000386100.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 752,
"cds_start": -4,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.2077-55G>C",
"hgvs_p": null,
"transcript": "ENST00000668949.1",
"protein_id": "ENSP00000499711.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 820,
"cds_start": -4,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.2035-55G>C",
"hgvs_p": null,
"transcript": "NM_001349864.2",
"protein_id": "NP_001336793.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 806,
"cds_start": -4,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.2035-55G>C",
"hgvs_p": null,
"transcript": "ENST00000660610.1",
"protein_id": "ENSP00000499555.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 806,
"cds_start": -4,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.2035-55G>C",
"hgvs_p": null,
"transcript": "ENST00000663895.1",
"protein_id": "ENSP00000499712.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 806,
"cds_start": -4,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.2035-55G>C",
"hgvs_p": null,
"transcript": "ENST00000667521.1",
"protein_id": "ENSP00000499665.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 806,
"cds_start": -4,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2813,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1897-55G>C",
"hgvs_p": null,
"transcript": "ENST00000664587.1",
"protein_id": "ENSP00000499394.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 760,
"cds_start": -4,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1873-55G>C",
"hgvs_p": null,
"transcript": "NM_001004426.3",
"protein_id": "NP_001004426.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 752,
"cds_start": -4,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1873-55G>C",
"hgvs_p": null,
"transcript": "NM_001199562.3",
"protein_id": "NP_001186491.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 752,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3017,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1873-55G>C",
"hgvs_p": null,
"transcript": "NM_001349865.2",
"protein_id": "NP_001336794.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1873-55G>C",
"hgvs_p": null,
"transcript": "NM_001349866.2",
"protein_id": "NP_001336795.1",
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"aa_start": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1873-55G>C",
"hgvs_p": null,
"transcript": "ENST00000335539.7",
"protein_id": "ENSP00000335149.3",
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},
{
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"strand": false,
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],
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"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1501-55G>C",
"hgvs_p": null,
"transcript": "NM_001349867.2",
"protein_id": "NP_001336796.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 13,
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"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1357-55G>C",
"hgvs_p": null,
"transcript": "NM_001349868.2",
"protein_id": "NP_001336797.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 14,
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"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "c.1339-55G>C",
"hgvs_p": null,
"transcript": "NM_001349869.2",
"protein_id": "NP_001336798.1",
"transcript_support_level": null,
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"cds_start": -4,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "n.*1233-55G>C",
"hgvs_p": null,
"transcript": "ENST00000436218.6",
"protein_id": "ENSP00000401242.1",
"transcript_support_level": 4,
"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 3,
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"gene_symbol": "PLA2G6",
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"hgvs_c": "n.743-55G>C",
"hgvs_p": null,
"transcript": "ENST00000496409.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "PLA2G6",
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"hgvs_c": "n.*893-55G>C",
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"transcript": "ENST00000655142.1",
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},
{
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"strand": false,
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],
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"intron_rank": 14,
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"gene_symbol": "PLA2G6",
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"hgvs_c": "n.*1774-55G>C",
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"transcript": "ENST00000665987.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "n.*1894-55G>C",
"hgvs_p": null,
"transcript": "ENST00000668499.1",
"protein_id": "ENSP00000499626.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"hgvs_c": "n.1967-55G>C",
"hgvs_p": null,
"transcript": "ENST00000671093.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
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"mane_select": null,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 14,
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"gene_symbol": "PLA2G6",
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"hgvs_c": "n.*1704-55G>C",
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"transcript": "ENST00000673413.1",
"protein_id": "ENSP00000500600.1",
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"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 2760,
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"feature": null
}
],
"gene_symbol": "PLA2G6",
"gene_hgnc_id": 9039,
"dbsnp": "rs572529162",
"frequency_reference_population": 0.000011690604,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000115316,
"gnomad_genomes_af": 0.0000131401,
"gnomad_exomes_ac": 16,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.641,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000332509.8",
"gene_symbol": "PLA2G6",
"hgnc_id": 9039,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2035-55G>C",
"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
}