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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: 5-50795069-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=50795069&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 50795069,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001427055.1",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1080C>G",
"hgvs_p": "p.His360Gln",
"transcript": "NM_024615.4",
"protein_id": "NP_078891.2",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 854,
"cds_start": 1080,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000281631.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024615.4"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1080C>G",
"hgvs_p": "p.His360Gln",
"transcript": "ENST00000281631.10",
"protein_id": "ENSP00000281631.4",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 854,
"cds_start": 1080,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024615.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281631.10"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1080C>G",
"hgvs_p": "p.His360Gln",
"transcript": "ENST00000505697.6",
"protein_id": "ENSP00000422217.2",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 854,
"cds_start": 1080,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505697.6"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1080C>G",
"hgvs_p": "p.His360Gln",
"transcript": "ENST00000514067.6",
"protein_id": "ENSP00000424814.2",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 812,
"cds_start": 1080,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514067.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "n.1096C>G",
"hgvs_p": null,
"transcript": "ENST00000503561.7",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000503561.7"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1203C>G",
"hgvs_p": "p.His401Gln",
"transcript": "NM_001427055.1",
"protein_id": "NP_001413984.1",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 895,
"cds_start": 1203,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001427055.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1080C>G",
"hgvs_p": "p.His360Gln",
"transcript": "NM_001178055.2",
"protein_id": "NP_001171526.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 854,
"cds_start": 1080,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178055.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1080C>G",
"hgvs_p": "p.His360Gln",
"transcript": "ENST00000898727.1",
"protein_id": "ENSP00000568786.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 854,
"cds_start": 1080,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898727.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1017C>G",
"hgvs_p": "p.His339Gln",
"transcript": "NM_001331028.2",
"protein_id": "NP_001317957.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 833,
"cds_start": 1017,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001331028.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1017C>G",
"hgvs_p": "p.His339Gln",
"transcript": "ENST00000505554.5",
"protein_id": "ENSP00000423946.1",
"transcript_support_level": 5,
"aa_start": 339,
"aa_end": null,
"aa_length": 833,
"cds_start": 1017,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505554.5"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1080C>G",
"hgvs_p": "p.His360Gln",
"transcript": "NM_001178056.2",
"protein_id": "NP_001171527.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 812,
"cds_start": 1080,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001178056.2"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1080C>G",
"hgvs_p": "p.His360Gln",
"transcript": "XM_011543631.4",
"protein_id": "XP_011541933.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 854,
"cds_start": 1080,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543631.4"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1203C>G",
"hgvs_p": "p.His401Gln",
"transcript": "XM_011543632.4",
"protein_id": "XP_011541934.3",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 853,
"cds_start": 1203,
"cds_end": null,
"cds_length": 2562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543632.4"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1203C>G",
"hgvs_p": "p.His401Gln",
"transcript": "XM_011543633.4",
"protein_id": "XP_011541935.3",
"transcript_support_level": null,
"aa_start": 401,
"aa_end": null,
"aa_length": 851,
"cds_start": 1203,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543633.4"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1080C>G",
"hgvs_p": "p.His360Gln",
"transcript": "XM_047417705.1",
"protein_id": "XP_047273661.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 812,
"cds_start": 1080,
"cds_end": null,
"cds_length": 2439,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417705.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.900C>G",
"hgvs_p": "p.His300Gln",
"transcript": "XM_011543634.3",
"protein_id": "XP_011541936.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 794,
"cds_start": 900,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543634.3"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.900C>G",
"hgvs_p": "p.His300Gln",
"transcript": "XM_047417706.1",
"protein_id": "XP_047273662.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 794,
"cds_start": 900,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417706.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.900C>G",
"hgvs_p": "p.His300Gln",
"transcript": "XM_047417707.1",
"protein_id": "XP_047273663.1",
"transcript_support_level": null,
"aa_start": 300,
"aa_end": null,
"aa_length": 794,
"cds_start": 900,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417707.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.1017C>G",
"hgvs_p": "p.His339Gln",
"transcript": "XM_047417708.1",
"protein_id": "XP_047273664.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 791,
"cds_start": 1017,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417708.1"
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "c.498C>G",
"hgvs_p": "p.His166Gln",
"transcript": "XM_011543643.3",
"protein_id": "XP_011541945.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 660,
"cds_start": 498,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543643.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "n.1101C>G",
"hgvs_p": null,
"transcript": "ENST00000511363.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000511363.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "n.*251C>G",
"hgvs_p": null,
"transcript": "ENST00000515166.5",
"protein_id": "ENSP00000424485.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000515166.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"hgvs_c": "n.*251C>G",
"hgvs_p": null,
"transcript": "ENST00000515166.5",
"protein_id": "ENSP00000424485.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000515166.5"
}
],
"gene_symbol": "PARP8",
"gene_hgnc_id": 26124,
"dbsnp": "rs766923691",
"frequency_reference_population": 0.0000018586646,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136809,
"gnomad_genomes_af": 0.00000657168,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.457943320274353,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.219,
"revel_prediction": "Benign",
"alphamissense_score": 0.1435,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 3.786,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001427055.1",
"gene_symbol": "PARP8",
"hgnc_id": 26124,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1203C>G",
"hgvs_p": "p.His401Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}