← Back to variant description
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: 6-157593127-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=157593127&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 157593127,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_024630.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "c.546C>A",
"hgvs_p": "p.Ser182Arg",
"transcript": "NM_024630.3",
"protein_id": "NP_078906.2",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 488,
"cds_start": 546,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359775.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024630.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "c.546C>A",
"hgvs_p": "p.Ser182Arg",
"transcript": "ENST00000359775.10",
"protein_id": "ENSP00000352821.5",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 488,
"cds_start": 546,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024630.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359775.10"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "c.546C>A",
"hgvs_p": "p.Ser182Arg",
"transcript": "ENST00000414563.6",
"protein_id": "ENSP00000410713.2",
"transcript_support_level": 1,
"aa_start": 182,
"aa_end": null,
"aa_length": 473,
"cds_start": 546,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000414563.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "n.197C>A",
"hgvs_p": null,
"transcript": "ENST00000341375.12",
"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": "ENST00000341375.12"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "c.546C>A",
"hgvs_p": "p.Ser182Arg",
"transcript": "ENST00000970776.1",
"protein_id": "ENSP00000640835.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 529,
"cds_start": 546,
"cds_end": null,
"cds_length": 1590,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970776.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "c.546C>A",
"hgvs_p": "p.Ser182Arg",
"transcript": "ENST00000931198.1",
"protein_id": "ENSP00000601257.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 497,
"cds_start": 546,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931198.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "c.546C>A",
"hgvs_p": "p.Ser182Arg",
"transcript": "NM_153746.2",
"protein_id": "NP_714968.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 473,
"cds_start": 546,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153746.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "c.546C>A",
"hgvs_p": "p.Ser182Arg",
"transcript": "ENST00000931194.1",
"protein_id": "ENSP00000601253.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 464,
"cds_start": 546,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931194.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "c.546C>A",
"hgvs_p": "p.Ser182Arg",
"transcript": "ENST00000931196.1",
"protein_id": "ENSP00000601255.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 449,
"cds_start": 546,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931196.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "c.546C>A",
"hgvs_p": "p.Ser182Arg",
"transcript": "ENST00000970775.1",
"protein_id": "ENSP00000640834.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 448,
"cds_start": 546,
"cds_end": null,
"cds_length": 1347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970775.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "c.546C>A",
"hgvs_p": "p.Ser182Arg",
"transcript": "ENST00000931197.1",
"protein_id": "ENSP00000601256.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 442,
"cds_start": 546,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931197.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "c.546C>A",
"hgvs_p": "p.Ser182Arg",
"transcript": "ENST00000931195.1",
"protein_id": "ENSP00000601254.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 433,
"cds_start": 546,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931195.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "c.546C>A",
"hgvs_p": "p.Ser182Arg",
"transcript": "ENST00000931192.1",
"protein_id": "ENSP00000601251.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 427,
"cds_start": 546,
"cds_end": null,
"cds_length": 1284,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931192.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "c.117C>A",
"hgvs_p": "p.Ser39Arg",
"transcript": "ENST00000340347.7",
"protein_id": "ENSP00000345721.7",
"transcript_support_level": 5,
"aa_start": 39,
"aa_end": null,
"aa_length": 107,
"cds_start": 117,
"cds_end": null,
"cds_length": 326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340347.7"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "c.600C>A",
"hgvs_p": "p.Ser200Arg",
"transcript": "XM_017011308.2",
"protein_id": "XP_016866797.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 495,
"cds_start": 600,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011308.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "c.600C>A",
"hgvs_p": "p.Ser200Arg",
"transcript": "XM_017011309.2",
"protein_id": "XP_016866798.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 491,
"cds_start": 600,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011309.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "c.546C>A",
"hgvs_p": "p.Ser182Arg",
"transcript": "XM_047419366.1",
"protein_id": "XP_047275322.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 477,
"cds_start": 546,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419366.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "c.600C>A",
"hgvs_p": "p.Ser200Arg",
"transcript": "XM_017011310.2",
"protein_id": "XP_016866799.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 464,
"cds_start": 600,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017011310.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "c.231C>A",
"hgvs_p": "p.Ser77Arg",
"transcript": "XM_047419368.1",
"protein_id": "XP_047275324.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 368,
"cds_start": 231,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419368.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "c.407-35222C>A",
"hgvs_p": null,
"transcript": "ENST00000931193.1",
"protein_id": "ENSP00000601252.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 435,
"cds_start": null,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931193.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "c.407-39707C>A",
"hgvs_p": null,
"transcript": "ENST00000970777.1",
"protein_id": "ENSP00000640836.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 389,
"cds_start": null,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970777.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "n.300C>A",
"hgvs_p": null,
"transcript": "ENST00000518214.5",
"protein_id": "ENSP00000428211.1",
"transcript_support_level": 3,
"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": "ENST00000518214.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"hgvs_c": "n.297C>A",
"hgvs_p": null,
"transcript": "ENST00000523468.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "retained_intron",
"feature": "ENST00000523468.5"
}
],
"gene_symbol": "ZDHHC14",
"gene_hgnc_id": 20341,
"dbsnp": "rs1321501817",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8806425333023071,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.385,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9985,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.805,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_024630.3",
"gene_symbol": "ZDHHC14",
"hgnc_id": 20341,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.546C>A",
"hgvs_p": "p.Ser182Arg"
}
],
"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
}