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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: 19-56158549-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=56158549&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 56158549,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018337.4",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF444",
"gene_hgnc_id": 16052,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Met",
"transcript": "NM_018337.4",
"protein_id": "NP_060807.2",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 327,
"cds_start": 353,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337080.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018337.4"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF444",
"gene_hgnc_id": 16052,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Met",
"transcript": "ENST00000337080.8",
"protein_id": "ENSP00000338860.3",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 327,
"cds_start": 353,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018337.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337080.8"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF444",
"gene_hgnc_id": 16052,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Met",
"transcript": "ENST00000592949.5",
"protein_id": "ENSP00000468069.1",
"transcript_support_level": 1,
"aa_start": 118,
"aa_end": null,
"aa_length": 326,
"cds_start": 353,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592949.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF444",
"gene_hgnc_id": 16052,
"hgvs_c": "c.-41C>T",
"hgvs_p": null,
"transcript": "XM_047439045.1",
"protein_id": "XP_047295001.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 196,
"cds_start": null,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047439045.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF444",
"gene_hgnc_id": 16052,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Met",
"transcript": "ENST00000875359.1",
"protein_id": "ENSP00000545418.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 327,
"cds_start": 353,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875359.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF444",
"gene_hgnc_id": 16052,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Met",
"transcript": "ENST00000875361.1",
"protein_id": "ENSP00000545420.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 327,
"cds_start": 353,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875361.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF444",
"gene_hgnc_id": 16052,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Met",
"transcript": "ENST00000875362.1",
"protein_id": "ENSP00000545421.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 327,
"cds_start": 353,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875362.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF444",
"gene_hgnc_id": 16052,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Met",
"transcript": "ENST00000875363.1",
"protein_id": "ENSP00000545422.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 327,
"cds_start": 353,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875363.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF444",
"gene_hgnc_id": 16052,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Met",
"transcript": "ENST00000875364.1",
"protein_id": "ENSP00000545423.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 327,
"cds_start": 353,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875364.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF444",
"gene_hgnc_id": 16052,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Met",
"transcript": "ENST00000875368.1",
"protein_id": "ENSP00000545427.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 327,
"cds_start": 353,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875368.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF444",
"gene_hgnc_id": 16052,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Met",
"transcript": "ENST00000875370.1",
"protein_id": "ENSP00000545429.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 327,
"cds_start": 353,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875370.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF444",
"gene_hgnc_id": 16052,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Met",
"transcript": "ENST00000875371.1",
"protein_id": "ENSP00000545430.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 327,
"cds_start": 353,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875371.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF444",
"gene_hgnc_id": 16052,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Met",
"transcript": "ENST00000875374.1",
"protein_id": "ENSP00000545433.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 327,
"cds_start": 353,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875374.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF444",
"gene_hgnc_id": 16052,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Met",
"transcript": "ENST00000875375.1",
"protein_id": "ENSP00000545434.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 327,
"cds_start": 353,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875375.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF444",
"gene_hgnc_id": 16052,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Met",
"transcript": "ENST00000924374.1",
"protein_id": "ENSP00000594433.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 327,
"cds_start": 353,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924374.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF444",
"gene_hgnc_id": 16052,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Met",
"transcript": "ENST00000924375.1",
"protein_id": "ENSP00000594434.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 327,
"cds_start": 353,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924375.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF444",
"gene_hgnc_id": 16052,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Met",
"transcript": "ENST00000924376.1",
"protein_id": "ENSP00000594435.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 327,
"cds_start": 353,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924376.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF444",
"gene_hgnc_id": 16052,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Met",
"transcript": "ENST00000924377.1",
"protein_id": "ENSP00000594436.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 327,
"cds_start": 353,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924377.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF444",
"gene_hgnc_id": 16052,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Met",
"transcript": "ENST00000924380.1",
"protein_id": "ENSP00000594439.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 327,
"cds_start": 353,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924380.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF444",
"gene_hgnc_id": 16052,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Met",
"transcript": "ENST00000924383.1",
"protein_id": "ENSP00000594442.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 327,
"cds_start": 353,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924383.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF444",
"gene_hgnc_id": 16052,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Met",
"transcript": "ENST00000924384.1",
"protein_id": "ENSP00000594443.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 327,
"cds_start": 353,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000924384.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF444",
"gene_hgnc_id": 16052,
"hgvs_c": "c.353C>T",
"hgvs_p": "p.Thr118Met",
"transcript": "ENST00000969530.1",
"protein_id": "ENSP00000639589.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 327,
"cds_start": 353,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969530.1"
},
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"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}