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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: 2-27328119-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27328119&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27328119,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001521.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2327C>G",
"hgvs_p": "p.Ser776Cys",
"transcript": "NM_001035521.3",
"protein_id": "NP_001030598.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 911,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2377,
"cdna_end": null,
"cdna_length": 3607,
"mane_select": "ENST00000264720.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001035521.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2327C>G",
"hgvs_p": "p.Ser776Cys",
"transcript": "ENST00000264720.8",
"protein_id": "ENSP00000264720.3",
"transcript_support_level": 1,
"aa_start": 776,
"aa_end": null,
"aa_length": 911,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2377,
"cdna_end": null,
"cdna_length": 3607,
"mane_select": "NM_001035521.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264720.8"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2327C>G",
"hgvs_p": "p.Ser776Cys",
"transcript": "ENST00000359541.6",
"protein_id": "ENSP00000352536.2",
"transcript_support_level": 1,
"aa_start": 776,
"aa_end": null,
"aa_length": 911,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2757,
"cdna_end": null,
"cdna_length": 3992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359541.6"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.851C>G",
"hgvs_p": "p.Ser284Cys",
"transcript": "ENST00000454704.5",
"protein_id": "ENSP00000393429.1",
"transcript_support_level": 1,
"aa_start": 284,
"aa_end": null,
"aa_length": 419,
"cds_start": 851,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 853,
"cdna_end": null,
"cdna_length": 1440,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454704.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "n.*49C>G",
"hgvs_p": null,
"transcript": "ENST00000415683.2",
"protein_id": "ENSP00000414422.2",
"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": 779,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000415683.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "n.*49C>G",
"hgvs_p": null,
"transcript": "ENST00000415683.2",
"protein_id": "ENSP00000414422.2",
"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": 779,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000415683.2"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2414C>G",
"hgvs_p": "p.Ser805Cys",
"transcript": "ENST00000957129.1",
"protein_id": "ENSP00000627188.1",
"transcript_support_level": null,
"aa_start": 805,
"aa_end": null,
"aa_length": 940,
"cds_start": 2414,
"cds_end": null,
"cds_length": 2823,
"cdna_start": 2476,
"cdna_end": null,
"cdna_length": 3710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957129.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2327C>G",
"hgvs_p": "p.Ser776Cys",
"transcript": "NM_001318909.4",
"protein_id": "NP_001305838.2",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 911,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 3029,
"cdna_end": null,
"cdna_length": 4259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318909.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2327C>G",
"hgvs_p": "p.Ser776Cys",
"transcript": "NM_001388380.3",
"protein_id": "NP_001375309.2",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 911,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2696,
"cdna_end": null,
"cdna_length": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001388380.3"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2327C>G",
"hgvs_p": "p.Ser776Cys",
"transcript": "NM_001394503.1",
"protein_id": "NP_001381432.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 911,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2463,
"cdna_end": null,
"cdna_length": 3693,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394503.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2327C>G",
"hgvs_p": "p.Ser776Cys",
"transcript": "NM_001394504.1",
"protein_id": "NP_001381433.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 911,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 3705,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394504.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2327C>G",
"hgvs_p": "p.Ser776Cys",
"transcript": "NM_001394505.1",
"protein_id": "NP_001381434.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 911,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2661,
"cdna_end": null,
"cdna_length": 3891,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394505.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2327C>G",
"hgvs_p": "p.Ser776Cys",
"transcript": "NM_001394506.1",
"protein_id": "NP_001381435.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 911,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2563,
"cdna_end": null,
"cdna_length": 3793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394506.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2327C>G",
"hgvs_p": "p.Ser776Cys",
"transcript": "NM_001394507.1",
"protein_id": "NP_001381436.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 911,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2553,
"cdna_end": null,
"cdna_length": 3783,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394507.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2327C>G",
"hgvs_p": "p.Ser776Cys",
"transcript": "NM_001394508.1",
"protein_id": "NP_001381437.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 911,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2781,
"cdna_end": null,
"cdna_length": 4011,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394508.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2327C>G",
"hgvs_p": "p.Ser776Cys",
"transcript": "NM_001394509.1",
"protein_id": "NP_001381438.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 911,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 3100,
"cdna_end": null,
"cdna_length": 4330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394509.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2327C>G",
"hgvs_p": "p.Ser776Cys",
"transcript": "NM_001394510.1",
"protein_id": "NP_001381439.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 911,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 3115,
"cdna_end": null,
"cdna_length": 4345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394510.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2327C>G",
"hgvs_p": "p.Ser776Cys",
"transcript": "NM_001394511.1",
"protein_id": "NP_001381440.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 911,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2477,
"cdna_end": null,
"cdna_length": 3707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394511.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2327C>G",
"hgvs_p": "p.Ser776Cys",
"transcript": "NM_001521.4",
"protein_id": "NP_001512.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 911,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2453,
"cdna_end": null,
"cdna_length": 3683,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001521.4"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2327C>G",
"hgvs_p": "p.Ser776Cys",
"transcript": "ENST00000872596.1",
"protein_id": "ENSP00000542655.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 911,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2886,
"cdna_end": null,
"cdna_length": 4118,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872596.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2327C>G",
"hgvs_p": "p.Ser776Cys",
"transcript": "ENST00000872597.1",
"protein_id": "ENSP00000542656.1",
"transcript_support_level": null,
"aa_start": 776,
"aa_end": null,
"aa_length": 911,
"cds_start": 2327,
"cds_end": null,
"cds_length": 2736,
"cdna_start": 2690,
"cdna_end": null,
"cdna_length": 3931,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872597.1"
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GTF3C2",
"gene_hgnc_id": 4665,
"hgvs_c": "c.2327C>G",
"hgvs_p": "p.Ser776Cys",
"transcript": "ENST00000872598.1",
"protein_id": "ENSP00000542657.1",
"transcript_support_level": null,
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{
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}