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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: X-135291063-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=135291063&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 135291063,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_007131.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Lys257Glu",
"transcript": "NM_007131.5",
"protein_id": "NP_009062.2",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 510,
"cds_start": 769,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370766.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007131.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Lys257Glu",
"transcript": "ENST00000370766.8",
"protein_id": "ENSP00000359802.3",
"transcript_support_level": 1,
"aa_start": 257,
"aa_end": null,
"aa_length": 510,
"cds_start": 769,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007131.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370766.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "n.541A>G",
"hgvs_p": null,
"transcript": "ENST00000469456.1",
"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": "ENST00000469456.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Lys257Glu",
"transcript": "ENST00000865785.1",
"protein_id": "ENSP00000535844.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 510,
"cds_start": 769,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865785.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Lys257Glu",
"transcript": "ENST00000865786.1",
"protein_id": "ENSP00000535845.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 510,
"cds_start": 769,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865786.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Lys257Glu",
"transcript": "ENST00000865787.1",
"protein_id": "ENSP00000535846.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 510,
"cds_start": 769,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865787.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Lys257Glu",
"transcript": "ENST00000865788.1",
"protein_id": "ENSP00000535847.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 510,
"cds_start": 769,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865788.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Lys257Glu",
"transcript": "ENST00000865789.1",
"protein_id": "ENSP00000535848.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 510,
"cds_start": 769,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865789.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Lys257Glu",
"transcript": "ENST00000865790.1",
"protein_id": "ENSP00000535849.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 510,
"cds_start": 769,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865790.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Lys257Glu",
"transcript": "ENST00000865791.1",
"protein_id": "ENSP00000535850.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 510,
"cds_start": 769,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865791.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Lys257Glu",
"transcript": "ENST00000942298.1",
"protein_id": "ENSP00000612357.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 510,
"cds_start": 769,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942298.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.484A>G",
"hgvs_p": "p.Lys162Glu",
"transcript": "NM_001185063.2",
"protein_id": "NP_001171992.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 415,
"cds_start": 484,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001185063.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.484A>G",
"hgvs_p": "p.Lys162Glu",
"transcript": "ENST00000370764.1",
"protein_id": "ENSP00000359800.1",
"transcript_support_level": 2,
"aa_start": 162,
"aa_end": null,
"aa_length": 415,
"cds_start": 484,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370764.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.484A>G",
"hgvs_p": "p.Lys162Glu",
"transcript": "ENST00000942296.1",
"protein_id": "ENSP00000612355.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 415,
"cds_start": 484,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942296.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.484A>G",
"hgvs_p": "p.Lys162Glu",
"transcript": "ENST00000942297.1",
"protein_id": "ENSP00000612356.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 415,
"cds_start": 484,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942297.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Lys257Glu",
"transcript": "XM_047442485.1",
"protein_id": "XP_047298441.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 510,
"cds_start": 769,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442485.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.331A>G",
"hgvs_p": "p.Lys111Glu",
"transcript": "XM_047442487.1",
"protein_id": "XP_047298443.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 364,
"cds_start": 331,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442487.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.319A>G",
"hgvs_p": "p.Lys107Glu",
"transcript": "XM_047442486.1",
"protein_id": "XP_047298442.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 360,
"cds_start": 319,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442486.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.256A>G",
"hgvs_p": "p.Lys86Glu",
"transcript": "XM_011531397.4",
"protein_id": "XP_011529699.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 339,
"cds_start": 256,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011531397.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Lys50Glu",
"transcript": "XM_005262471.4",
"protein_id": "XP_005262528.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 303,
"cds_start": 148,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005262471.4"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ETDC",
"gene_hgnc_id": 53450,
"hgvs_c": "c.-1245-2687T>C",
"hgvs_p": null,
"transcript": "ENST00000850982.1",
"protein_id": "ENSP00000521065.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 59,
"cds_start": null,
"cds_end": null,
"cds_length": 180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000850982.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "n.828-35286A>G",
"hgvs_p": null,
"transcript": "ENST00000494295.2",
"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": "ENST00000494295.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"hgvs_c": "n.850-35286A>G",
"hgvs_p": null,
"transcript": "NR_110381.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_110381.2"
}
],
"gene_symbol": "ZNF75D",
"gene_hgnc_id": 13145,
"dbsnp": null,
"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": 0.3055254817008972,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.118,
"revel_prediction": "Benign",
"alphamissense_score": 0.6304,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.845,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_007131.5",
"gene_symbol": "ZNF75D",
"hgnc_id": 13145,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.769A>G",
"hgvs_p": "p.Lys257Glu"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000850982.1",
"gene_symbol": "ETDC",
"hgnc_id": 53450,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-1245-2687T>C",
"hgvs_p": null
}
],
"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
}