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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: 10-70533060-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=70533060&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 70533060,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014431.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALD1",
"gene_hgnc_id": 23530,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Ser287Thr",
"transcript": "NM_014431.3",
"protein_id": "NP_055246.2",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 856,
"cds_start": 860,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263563.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014431.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALD1",
"gene_hgnc_id": 23530,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Ser287Thr",
"transcript": "ENST00000263563.7",
"protein_id": "ENSP00000263563.5",
"transcript_support_level": 1,
"aa_start": 287,
"aa_end": null,
"aa_length": 856,
"cds_start": 860,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014431.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263563.7"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALD1",
"gene_hgnc_id": 23530,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Ser287Thr",
"transcript": "ENST00000697571.1",
"protein_id": "ENSP00000513342.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 865,
"cds_start": 860,
"cds_end": null,
"cds_length": 2598,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697571.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALD1",
"gene_hgnc_id": 23530,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Ser287Thr",
"transcript": "ENST00000893833.1",
"protein_id": "ENSP00000563892.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 856,
"cds_start": 860,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893833.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALD1",
"gene_hgnc_id": 23530,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Ser287Thr",
"transcript": "ENST00000893834.1",
"protein_id": "ENSP00000563893.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 856,
"cds_start": 860,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893834.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALD1",
"gene_hgnc_id": 23530,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Ser287Thr",
"transcript": "ENST00000893836.1",
"protein_id": "ENSP00000563895.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 856,
"cds_start": 860,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893836.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALD1",
"gene_hgnc_id": 23530,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Ser287Thr",
"transcript": "ENST00000915437.1",
"protein_id": "ENSP00000585496.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 856,
"cds_start": 860,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915437.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALD1",
"gene_hgnc_id": 23530,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Ser287Thr",
"transcript": "ENST00000915438.1",
"protein_id": "ENSP00000585497.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 856,
"cds_start": 860,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915438.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALD1",
"gene_hgnc_id": 23530,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Ser287Thr",
"transcript": "ENST00000915446.1",
"protein_id": "ENSP00000585505.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 856,
"cds_start": 860,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915446.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALD1",
"gene_hgnc_id": 23530,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Ser287Thr",
"transcript": "ENST00000945160.1",
"protein_id": "ENSP00000615219.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 856,
"cds_start": 860,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945160.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALD1",
"gene_hgnc_id": 23530,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Ser287Thr",
"transcript": "ENST00000945162.1",
"protein_id": "ENSP00000615221.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 856,
"cds_start": 860,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945162.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALD1",
"gene_hgnc_id": 23530,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Ser287Thr",
"transcript": "ENST00000915441.1",
"protein_id": "ENSP00000585500.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 855,
"cds_start": 860,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915441.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALD1",
"gene_hgnc_id": 23530,
"hgvs_c": "c.824G>C",
"hgvs_p": "p.Ser275Thr",
"transcript": "ENST00000915443.1",
"protein_id": "ENSP00000585502.1",
"transcript_support_level": null,
"aa_start": 275,
"aa_end": null,
"aa_length": 844,
"cds_start": 824,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915443.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALD1",
"gene_hgnc_id": 23530,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Ser287Thr",
"transcript": "ENST00000893832.1",
"protein_id": "ENSP00000563891.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 832,
"cds_start": 860,
"cds_end": null,
"cds_length": 2499,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893832.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALD1",
"gene_hgnc_id": 23530,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Ser287Thr",
"transcript": "ENST00000893835.1",
"protein_id": "ENSP00000563894.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 824,
"cds_start": 860,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893835.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALD1",
"gene_hgnc_id": 23530,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Ser287Thr",
"transcript": "ENST00000945161.1",
"protein_id": "ENSP00000615220.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 817,
"cds_start": 860,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945161.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALD1",
"gene_hgnc_id": 23530,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Ser287Thr",
"transcript": "ENST00000697573.1",
"protein_id": "ENSP00000513344.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 813,
"cds_start": 860,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697573.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALD1",
"gene_hgnc_id": 23530,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Ser287Thr",
"transcript": "ENST00000915439.1",
"protein_id": "ENSP00000585498.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 813,
"cds_start": 860,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915439.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALD1",
"gene_hgnc_id": 23530,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Ser287Thr",
"transcript": "ENST00000915445.1",
"protein_id": "ENSP00000585504.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 804,
"cds_start": 860,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915445.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALD1",
"gene_hgnc_id": 23530,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Ser287Thr",
"transcript": "ENST00000697570.1",
"protein_id": "ENSP00000513341.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 795,
"cds_start": 860,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697570.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALD1",
"gene_hgnc_id": 23530,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Ser287Thr",
"transcript": "ENST00000915442.1",
"protein_id": "ENSP00000585501.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 795,
"cds_start": 860,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915442.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PALD1",
"gene_hgnc_id": 23530,
"hgvs_c": "c.860G>C",
"hgvs_p": "p.Ser287Thr",
"transcript": "ENST00000915444.1",
"protein_id": "ENSP00000585503.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 795,
"cds_start": 860,
"cds_end": null,
"cds_length": 2388,
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{
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],
"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
}